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Publication Spotlights

 

Congratulations on our team's most recent publication achievements!


SIMS training A recent publication on teaching palliative care to neurology residents at UMass in a simulated setting showcases the collaboration between palliative care and neurology in a recent article published in Neurology Journal titled Curriculum Innovations: Enhancing skills in serious illness communication in Neurology Residents Using Simulation: 

Read the article published by UMass Chan News, https://www.umassmed.edu/medicine/research/researchers-in-the-news/palliative-care-and-neurology-collaborate-to-develop-curriculum-that-aims-to-improve-serious-illness-communication-skills-for-neurology-residents/ 

February 2025 

Author, Eleonora D'Ambrosio, first author, of the February 2025 publication in Muscle and Nerve journal, Wiley Online Library titled, Comparision of Two Questionnaires for Sleep-Related Symptoms in Pediatric and Adult Patients With Myotonic Dystrophy Type 1.

January 2025 

Author, Bridgette Van Zundert, first author, of the January 2025 publication in SpencerNature journal of the Subcellular Biochemistry book series titled, Epigenetics in Neurodegenerative Diseases. 

Author(s), Mustafa Al Gburi, Maria Mazzola, Martina Absinta, Maria I Gaitan, Daniel S Reich, Sathish K Dundamadappa, Christopher C Hemond, of the January 2025 publication in Sage Journals titled, Paramagnetic rim lesion formation is predicted by the initial gadlinium-enhancing lesion diameter.  

Author(s), Elif O Dogan, Sean R Simonini, James Bouley, Alexandra Weiss, Robert H Brown Jr, Nils Henninger, of the January 2025 publication in Annals of Neurology journal titled, Genetic Ablationof Sarm1 Mitigates Disease Acceleration after Traumatic Brain Injury in the SOD1G93A Transgenic Mouse Model of Amyotrophic Lateral Sclerosis  

December 2024 

Author(s) Jonathan Sundstrom, Nathaniel J Barton, Pepper Dawes, Liam F Murray, Meagan N Olson, Khanh Tran, Samantha M Chigas, Adrian R Orszulak, Yingleong Chan, Elaine T Lim, of the December 2024 publication in Cells Journal titled, Herpes Simplex Virus 1 Infection of Human Brain Organoids and Pancreatic Stem Cell-Islets Drives Organoid-Specific Transcripts Associated with Alzheimer’s Disease and Autoimmune Diseases 

Access to the PubMed list of publications

Total: displaying 15 out of 50 results

  • CNM-Au8 in Amyotrophic Lateral Sclerosis: The HEALEY ALS Platform Trial

    Tuesday, March 11, 2025
    Author(s): Writing Committee for the HEALEY ALS Platform Trial,James D Berry,Nicholas J Maragakis,Eric A Macklin,Lori B Chibnik,Melanie Quintana,Benjamin R Saville,Michelle A Detry,Matteo Vestrucci,Joseph Marion,Anna McGlothlin,Elijah W Stommel,Marianne Chase,Lindsay Pothier,Brittney A Harkey,Hong Yu,Alex Sherman,Jeremy Shefner,Meghan Hall,Gale Kittle,Suma Babu,Jinsy Andrews,Derek D'Agostino,Eric Tustison,Erica Scirocco,Elisa Giacomelli,Gustavo Alameda,Eduardo Locatelli,Doreen Ho,Adam Quick,Senda Ajroud-Driss,Jonathan Katz,Daragh Heitzman,Stanley H Appel,Sheetal Shroff,Kevin J Felice,Zachary Simmons,Timothy Miller,Nicholas Olney,Michael D Weiss,Stephen A Goutman,Joseph Americo Fernandes,Omar Jawdat,Margaret Ayo Owegi,Laura Foster,Tuan Vu,Hristelina Ilieva,Daniel S Newman,Ximena Arcila-Londono,Carlayne Jackson,Shafeeq Ladha,Terry Heiman-Patterson,James Caress,Andrea Swenson,Amanda Peltier,Richard Lewis,Dominic Fee,Matthew Elliott,Richard Bedlack,Edward J Kasarskis,Lauren Elman,Jeffrey Rosenfeld,David Walk,Courtney E McIlduff,Paul Twydell,Eufrosina Young,Kristin Johnson,Kourosh Rezania,Namita A Goyal,Jeffrey A Cohen,Michael Benatar,Vovanti Jones,Jonathan Glass,Jaimin Shah,Said R Beydoun,James P Wymer,Lindsay Zilliox,Shakti Nayar,Gary L Pattee,Jennifer Martinez-Thompson,Austin Rynders,Jacob Evan,Jeremy Evan,Alan Hartford,Marjan Sepassi,Karen S Ho,Robert Glanzman,Benjamin Greenberg,Michael T Hotchkin,Sabrina Paganoni,Merit E Cudkowicz,HEALEY ALS Platform Trial Study Group
    Source: JAMA
    CONCLUSIONS AND RELEVANCE: No benefit of CNM-Au8 on ALS disease progression was observed at 24 weeks.

  • Pridopidine in Amyotrophic Lateral Sclerosis: The HEALEY ALS Platform Trial

    Tuesday, March 11, 2025
    Author(s): Writing Committee for the HEALEY ALS Platform Trial,Jeremy M Shefner,Björn Oskarsson,Eric A Macklin,Lori B Chibnik,Melanie Quintana,Benjamin R Saville,Michelle A Detry,Matteo Vestrucci,Joe Marion,Anna McGlothlin,Terry Heiman-Patterson,Marianne Chase,Lindsay Pothier,Brittney A Harkey,Hong Yu,Alexander V Sherman,Meghan Hall,Gale Kittle,James D Berry,Suma Babu,Jinsy Andrews,Derek D'Agostino,Eric Tustison,Erica Scirocco,Elisa Giacomelli,Gustavo Alameda,Eduardo Locatelli,Doreen Ho,Adam Quick,Senda Ajroud-Driss,Jonathan Katz,Daragh Heitzman,Stanley H Appel,Sheetal Shroff,Kevin Felice,Nicholas J Maragakis,Zachary Simmons,Timothy M Miller,Nicholas Olney,Michael D Weiss,Stephen A Goutman,Joseph Americo Fernandes,Omar Jawdat,Margaret Ayo Owegi,Laura A Foster,Tuan Vu,Hristelina Ilieva,Daniel S Newman,Ximena Arcila-Londono,Carlayne E Jackson,Shafeeq Ladha,James B Caress,Andrea Swenson,Amanda Peltier,Richard A Lewis,Dominic Fee,Matthew Elliott,Richard Bedlack,Edward J Kasarskis,Lauren Elman,Jeffrey Rosenfeld,David Walk,Courtney McIlduff,Paul Twydell,Eufrosina Young,Kristin Johnson,Kourosh Rezania,Namita A Goyal,Jeffrey A Cohen,Michael Benatar,Vovanti Jones,Jaimin Shah,Said R Beydoun,James P Wymer,Lindsay Zilliox,Shakti Nayar,Gary L Pattee,Jennifer Martinez-Thompson,Melanie L Leitner,Kelly Chen,Y Paul Goldberg,Yael Cohen,Michal Geva,Michael R Hayden,Sabrina Paganoni,Merit E Cudkowicz,HEALEY ALS Platform Trial Study Group
    Source: JAMA
    CONCLUSIONS AND RELEVANCE: In this 24-week study, pridopidine did not impact the progression of ALS.

  • Verdiperstat in Amyotrophic Lateral Sclerosis: Results From the Randomized HEALEY ALS Platform Trial

    Tuesday, March 11, 2025
    Author(s): Writing Committee for the HEALEY ALS Platform Trial,Jinsy Andrews,Sabrina Paganoni,Eric A Macklin,Lori B Chibnik,Melanie Quintana,Benjamin R Saville,Michelle A Detry,Matteo Vestrucci,Joseph Marion,Anna McGlothlin,Eufrosina Young,Marianne Chase,Lindsay Pothier,Brittney Harkey,Hong Yu,Alex Sherman,Jeremy Shefner,Meghan Hall,Gale Kittle,Mariah R Connolly,James D Berry,Derek D'Agostino,Eric Tustison,Elisa Giacomelli,Erica Scirocco,Gustavo Alameda,Eduardo Locatelli,Doreen Ho,Adam Quick,Daragh Heitzman,Senda Ajroud-Driss,Stanley H Appel,Sheetal Shroff,Jonathan Katz,Kevin Felice,Nicholas J Maragakis,Zachary Simmons,Stephen A Goutman,Nicholas Olney,Timothy Miller,Joseph Americo Fernandes,Hristelina Ilieva,Omar Jawdat,Michael D Weiss,Laura Foster,Tuan Vu,Shafeeq Ladha,Margaret Ayo Owegi,Daniel S Newman,Ximena Arcila-Londono,Carlayne E Jackson,Andrea Swenson,Terry Heiman-Patterson,James Caress,Dominic Fee,Amanda Peltier,Richard Lewis,Jeffrey Rosenfeld,David Walk,Kristin Johnson,Matthew Elliott,Edward J Kasarskis,Seward Rutkove,Courtney E McIlduff,Richard Bedlack,Lauren Elman,Namita A Goyal,Kourosh Rezania,Paul Twydell,Michael Benatar,Jonathan Glass,Jeffrey A Cohen,Vovanti Jones,Lindsay Zilliox,James P Wymer,Said R Beydoun,Jaimin Shah,Gary L Pattee,Jennifer Martinez-Thompson,Shakti Nayar,Volkan Granit,Mary Donohue,Katheryn Grossman,Daniel J Campbell,Irfan A Qureshi,Merit E Cudkowicz,Suma Babu,HEALEY ALS Platform Trial Study Group
    Source: JAMA neurology
    CONCLUSIONS AND RELEVANCE: Results demonstrate that treatment with verdiperstat was unlikely to alter disease progression in ALS.

  • Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk

    Thursday, March 06, 2025
    Author(s): Seung Hoan Choi,Sean J Jurgens,Ling Xiao,Matthew C Hill,Christopher M Haggerty,Garðar Sveinbjörnsson,Valerie N Morrill,Nicholas A Marston,Lu-Chen Weng,James P Pirruccello,David O Arnar,Daniel Fannar Gudbjartsson,Helene Mantineo,Aenne S von Falkenhausen,Andrea Natale,Arnljot Tveit,Bastiaan Geelhoed,Carolina Roselli,David R Van Wagoner,Dawood Darbar,Doreen Haase,Elsayed Z Soliman,Giovanni E Davogustto,Goo Jun,Hugh Calkins,Jeffrey L Anderson,Jennifer A Brody,Jennifer L Halford,John Barnard,John E Hokanson,Jonathan D Smith,Joshua C Bis,Kendra Young,Linda S B Johnson,Lorenz Risch,Lorne J Gula,Lydia Coulter Kwee,Mark D Chaffin,Michael Kühne,Michael Preuss,Namrata Gupta,Navid A Nafissi,Nicholas L Smith,Peter M Nilsson,Pim van der Harst,Quinn S Wells,Renae L Judy,Renate B Schnabel,Renee Johnson,Roelof A J Smit,Stacey Gabriel,Stacey Knight,Tetsushi Furukawa,Thomas W Blackwell,Victor Nauffal,Xin Wang,Yuan-I Min,Zachary T Yoneda,Zachary W M Laksman,Connie R Bezzina,Alvaro Alonso,Bruce M Psaty,Christine M Albert,Dan E Arking,Dan M Roden,Daniel I Chasman,Daniel J Rader,David Conen,David D McManus,Diane Fatkin,Emelia J Benjamin,Eric Boerwinkle,Gregory M Marcus,Ingrid E Christophersen,J Gustav Smith,Jason D Roberts,Laura M Raffield,M Benjamin Shoemaker,Michael H Cho,Michael J Cutler,Michiel Rienstra,Mina K Chung,Morten S Olesen,Moritz F Sinner,Nona Sotoodehnia,Paulus Kirchhof,Ruth J F Loos,Saman Nazarian,Sanghamitra Mohanty,Scott M Damrauer,Stefan Kaab,Susan R Heckbert,Susan Redline,Svati H Shah,Toshihiro Tanaka,Yusuke Ebana,Regeneron Genetics Center,NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium,Hilma Holm,Kari Stefansson,Christian T Ruff,Marc S Sabatine,Kathryn L Lunetta,Steven A Lubitz,Patrick T Ellinor
    Source: Nature genetics
    Atrial fibrillation (AF) is a prevalent and morbid abnormality of the heart rhythm with a strong genetic component. Here, we meta-analyzed genome and exome sequencing data from 36 studies that included 52,416 AF cases and 277,762 controls. In burden tests of rare coding variation, we identified novel associations between AF and the genes MYBPC3, LMNA, PKP2, FAM189A2 and KDM5B. We further identified associations between AF and rare structural variants owing to deletions in CTNNA3 and duplications...

  • Minimal clinical impact of embolization to new territory on outcomes in medium vessel occlusion strokes treated with mechanical thrombectomy: a retrospective multicenter study

    Wednesday, March 05, 2025
    Author(s): Hamza Adel Salim,Vivek Yedavalli,Dhairya A Lakhani,Fathi Milhem,Basel Musmar,Nimer Adeeb,Tobias D Faizy,Motaz Daraghma,Kareem El Naamani,Nils Henninger,Sri Hari Sundararajan,Anna Luisa Kuhn,Jane Khalife,Sherief Ghozy,Luca Scarcia,Inayat Grewal,Leonard Ll Yeo,Benjamin Yq Tan,Robert W Regenhardt,Jeremy Josef Heit,Nicole M Cancelliere,Aymeric Rouchaud,Jens Fiehler,Sunil A Sheth,Ajit S Puri,Christian Dyzmann,Marco Colasurdo,Leonardo Renieri,João Pedro Filipe,Pablo Harker,Răzvan Alexandru Radu,Mohamad Abdalkader,Piers Klein,Thomas R Marotta,Julian Spears,Takahiro Ota,Ashkan Mowla,Pascal Jabbour,Arundhati Biswas,Frédéric Clarençon,James E Siegler,Thanh N Nguyen,Ricardo Varela,Amanda Baker,Muhammed Amir Essibayi,David Altschul,Nestor Gonzalez,Markus A Möhlenbruch,Vincent Costalat,Benjamin Gory,Christian Paul Stracke,Constantin Hecker,Gaultier Marnat,Hamza Shaikh,Christoph J Griessenauer,David S Liebeskind,Alessandro Pedicelli,Andrea Maria Alexandre,Illario Tancredi,Erwah Kalsoum,Boris Lubicz,Aman B Patel,Vitor Mendes Pereira,Max Wintermark,Adrien Guenego,Adam A Dmytriw,MAD MT Investigators
    Source: Journal of neurointerventional surgery
    CONCLUSIONS: ENT during MT for MeVO stroke occurs infrequently and does not significantly affect the clinical outcomes. These findings suggest ENT risk should not deter clinicians from performing MT in patients with MeVO. Further prospective studies are needed to validate these results.

  • Psychosocial Burden and Suicidality in Epilepsy: A Public Health Concern

    Monday, March 03, 2025
    Author(s): Elaine T Kiriakopoulos,Felicia Chu,Jay Salpekar,Gaston Baslet,Gena Ghearing,Hamada Altalib,Martha Sajatovic
    Source: Epilepsy currents
    The increased risk for psychosocial burden and suicidality in people with epilepsy compared to the general population is a well-established global public health concern. Suicidality risk is also increased in patients with functional seizures. The timely identification of patients at highest risk for psychosocial burden and self-harm is vital. This can pose a significant challenge for multidisciplinary clinicians caring for people with epilepsy. Early identification of social stressors and...

  • Association of Statin Therapy with Functional Outcomes and Survival in Intracerebral and Subarachnoid Hemorrhage

    Tuesday, February 25, 2025
    Author(s): Bahadar S Srichawla,Daksha Gopal,Majaz Moonis
    Source: Neurology international
    Background/Objectives: Intracerebral hemorrhage (ICH) and subarachnoid hemorrhage (SAH) are severe forms of stroke with high morbidity and mortality rates. HMG-CoA reductase inhibitors, commonly referred to as statins, known for their lipid-lowering abilities, also possess pleiotropic properties, including anti-inflammatory and neuroprotective effects. We aimed to evaluate the impact of statin therapy on the functional outcomes and survival in patients with ICH and SAH. Methods: This...

  • Central-variant posterior reversible encephalopathy syndrome in association with adrenal insufficiency: A case report

    Monday, February 24, 2025
    Author(s): Bahadar S Srichawla,Vincent Kipkorir,Rakhee Lalla
    Source: Medicine
    RATIONALE: Posterior reversible encephalopathy syndrome (PRES) is a neurotoxic condition often linked to hypertension, eclampsia, or renal failure. PRES typically presenting with seizures, headaches, visual disturbances, and altered mental status. A rarer form, the central variant of PRES, involves atypical radiologic findings such as edema in central brain structures. PRES has not been previously associated with adrenal insufficiency, making this case novel and significant.

  • The clinical and radiographic features of eastern equine encephalitis: A single-center retrospective case series

    Wednesday, February 19, 2025
    Author(s): Maria A Garcia-Dominguez,Majaz Moonis,Vincent Kipkorir,Bahadar S Srichawla
    Source: Medicine
    RATIONALE: This case series aims to describe the clinical and radiographic findings associated with eastern equine encephalitis (EEE) virus.

  • Intravenous Thrombolysis in Cervical Artery Dissection-Related Stroke: A Nationwide Study

    Wednesday, February 19, 2025
    Author(s): Liqi Shu,Elizabeth Lee,Thalia S Field,Xiaofan Guo,Nils Henninger,Zafer Keser,Muhib Khan,Eva A Mistry,Thanh N Nguyen,James E Siegler,Lukas Strelecky,Daniel M Mandel,Christoph Stretz,Karen L Furie,Shadi Yaghi
    Source: Journal of the American Heart Association
    CONCLUSIONS: IVT improves the likelihood of home discharge in patients with CeAD-AIS without increasing the risk of inpatient death or intracerebral hemorrhage.

  • Efficacy and Safety of Zilucoplan in Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial

    Monday, February 17, 2025
    Author(s): Sabrina Paganoni,Christina N Fournier,Eric A Macklin,Lori B Chibnik,Melanie Quintana,Benjamin R Saville,Michelle A Detry,Matteo Vestrucci,Joe Marion,Anna McGlothlin,Senda Ajroud-Driss,Marianne Chase,Lindsay Pothier,Brittney A Harkey,Hong Yu,Alexander V Sherman,Jeremy M Shefner,Meghan Hall,Gale Kittle,James D Berry,Suma Babu,Jinsy Andrews,Derek Dagostino,Eric Tustison,Elisa Giacomelli,Erica Scirocco,Gustavo Alameda,Eduardo Locatelli,Doreen Ho,Adam Quick,Jonathan Katz,Daragh Heitzman,Stanley H Appel,Sheetal Shroff,Kevin Felice,Nicholas J Maragakis,Zachary Simmons,Timothy M Miller,Nicholas Olney,Michael D Weiss,Stephen A Goutman,Joseph Americo Fernandes,Omar Jawdat,Margaret Ayo Owegi,Laura A Foster,Tuan Vu,Hristelina Ilieva,Daniel S Newman,Ximena Arcila-Londono,Carlayne E Jackson,Shafeeq Ladha,Terry Heiman-Patterson,James B Caress,Andrea Swenson,Amanda Peltier,Richard Lewis,Dominic Fee,Matthew Elliott,Richard Bedlack,Edward J Kasarskis,Lauren Elman,Jeffrey Rosenfeld,David Walk,Courtney McIlduff,Paul Twydell,Eufrosina Young,Kristin Johnson,Kourosh Rezania,Namita A Goyal,Jeffrey A Cohen,Michael Benatar,Vovanti Jones,Jonathan Glass,Jaimin Shah,Said R Beydoun,James P Wymer,Lindsay Zilliox,Shakti Nayar,Gary L Pattee,Jennifer Martinez-Thompson,Brittany Harvey,Shital Patel,Paul Mahoney,Petra W Duda,Merit E Cudkowicz,HEALEY ALS Platform Trial Study Group
    Source: JAMA network open
    CONCLUSIONS AND RELEVANCE: In this randomized clinical trial of zilucoplan in ALS, treatment did not alter disease progression. The adaptive platform design of the HEALEY ALS Platform Trial made it possible to test a new investigational product with efficient use of time and resources.

  • Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications

    Thursday, February 13, 2025
    Author(s): Alfredo Iacoangeli,Allison A Dilliott,Ahmad Al Khleifat,Peter M Andersen,Nazlı A Başak,Johnathan Cooper-Knock,Philippe Corcia,Philippe Couratier,Mamede deCarvalho,Vivian E Drory,Jonathan D Glass,Marc Gotkine,Yosef M Lerner,Orla Hardiman,John E Landers,Russell L McLaughlin,Jesus S Mora Pardina,Karen Morrison,Susana Pinto,Monica Povedano,Christopher E Shaw,Pamela J Shaw,Vincenzo Silani,Nicola Ticozzi,Philip van Damme,Leonard H van den Berg,Patrick Vourc'h,Markus Weber,Jan Herman Veldink,Project MinE ALS Sequencing Consortium,Richard Dobson,Guy A Rouleau,Ammar Al-Chalabi,Sali M K Farhan
    Source: Journal of neurology, neurosurgery, and psychiatry
    CONCLUSIONS: Our findings represent the first large-scale, case-control assessment of oligogenicity in ALS and show that oligogenic events involving known ALS risk genes are relevant for disease risk in ~6% of ALS but not necessarily for disease onset and survival. This must be considered in genetic counselling and testing by ensuring to use comprehensive gene panels even when a pathogenic variant has already been identified. Moreover, in the age of stratified medication and gene therapy, it...

  • A Single-Center Sham and Active-Controlled Double-Blind Randomized Crossover Trial of the Magnetic Levator Prosthesis for Severe Blepharoptosis

    Tuesday, February 11, 2025
    Author(s): Kevin E Houston,Shrinivas Pundlik,Prerana Shivshanker,Alex R Bowers,Sarah LaRosa,Mara Robinson,James Chodosh,Lynn Brandes,Patrick Lee,Eleftherios I Paschalis
    Source: Translational vision science & technology
    CONCLUSIONS: The MLP was superior to KT tape and sham for the treatment of severe blepharoptosis.

  • A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies

    Friday, February 07, 2025
    Author(s): Xihao Li,Han Chen,Margaret Sunitha Selvaraj,Eric Van Buren,Hufeng Zhou,Yuxuan Wang,Ryan Sun,Zachary R McCaw,Zhi Yu,Min-Zhi Jiang,Daniel DiCorpo,Sheila M Gaynor,Rounak Dey,Donna K Arnett,Emelia J Benjamin,Joshua C Bis,John Blangero,Eric Boerwinkle,Donald W Bowden,Jennifer A Brody,Brian E Cade,April P Carson,Jenna C Carlson,Nathalie Chami,Yii-Der Ida Chen,Joanne E Curran,Paul S de Vries,Myriam Fornage,Nora Franceschini,Barry I Freedman,Charles Gu,Nancy L Heard-Costa,Jiang He,Lifang Hou,Yi-Jen Hung,Marguerite R Irvin,Robert C Kaplan,Sharon L R Kardia,Tanika N Kelly,Iain Konigsberg,Charles Kooperberg,Brian G Kral,Changwei Li,Yun Li,Honghuang Lin,Ching-Ti Liu,Ruth J F Loos,Michael C Mahaney,Lisa W Martin,Rasika A Mathias,Braxton D Mitchell,May E Montasser,Alanna C Morrison,Take Naseri,Kari E North,Nicholette D Palmer,Patricia A Peyser,Bruce M Psaty,Susan Redline,Alexander P Reiner,Stephen S Rich,Colleen M Sitlani,Jennifer A Smith,Kent D Taylor,Hemant K Tiwari,Ramachandran S Vasan,Satupa'itea Viali,Zhe Wang,Jennifer Wessel,Lisa R Yanek,Bing Yu,NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium,Josée Dupuis,James B Meigs,Paul L Auer,Laura M Raffield,Alisa K Manning,Kenneth M Rice,Jerome I Rotter,Gina M Peloso,Pradeep Natarajan,Zilin Li,Zhonghua Liu,Xihong Lin
    Source: Nature computational science
    Large-scale whole-genome sequencing (WGS) studies have improved our understanding of the contributions of coding and noncoding rare variants to complex human traits. Leveraging association effect sizes across multiple traits in WGS rare variant association analysis can improve statistical power over single-trait analysis, and also detect pleiotropic genes and regions. Existing multi-trait methods have limited ability to perform rare variant analysis of large-scale WGS data. We propose...

  • Reporting standards in randomized controlled trials involving neuro-oncology caregivers: A systematic review report from the RANO-Cares working group

    Friday, February 07, 2025
    Author(s): Florien W Boele,Caroline Hertler,Paula Sherwood,David Cachia,Linda Dirven,Jacob S Young,Tobias Walbert,Macy Stockdill,Eduardo Rodriguez Almaraz,Karin Piil
    Source: Neuro-oncology practice
    CONCLUSIONS: Whilst there are opportunities to enhance reporting standards, RCTs that include neuro-oncology caregiver outcomes generally adhere to high-quality reporting standards and have low risk of bias, indicating good potential to impact clinical practice.

  • Research Priorities in Neuropalliative Care: A Consensus Statement From the International Neuropalliative Care Society

    Monday, February 03, 2025
    Author(s): Winnie K Lau,Corey R Fehnel,Zachary A Macchi,Ambereen K Mehta,Manon Auffret,Jori F Bogetz,Jori E Fleisher,Jerome J Graber,Heather E Leeper,Heena R Manglani-Terranova,Susanne Muehlschlegel,Emily L Mroz,Elizabeth J Pedowitz,Usha Ramanathan,Max Sarmet,Nathan A Shlobin,Leonard Sokol,Susan Allyson Weeks,Jiayun Xu,Helen Bundy Medsger,Claire J Creutzfeldt,Ana-Maria Vranceanu,Darin B Zahuranec,David Y Hwang
    Source: JAMA neurology
    CONCLUSIONS AND RELEVANCE: This Special Communication outlines some of the most pressing neuropalliative care research needs, the advancement of which will best serve patients of all ages living with serious neurologic diseases and their care partners. Research funding mechanisms are needed to support and sustain impactful work in this field.

  • Emergent Carotid Stenting During Thrombectomy in Tandem Occlusions Secondary to Dissection: A STOP-CAD Secondary Study

    Thursday, January 30, 2025
    Author(s): João André Sousa,Marc Rodrigo-Gisbert,Liqi Shu,Anqi Luo,Han Xiao,Noor A Mahmoud,Asghar Shah,Ana Luyza Oliveira Santos,Marina Moore,Daniel M Mandel,Mirjam R Heldner,Vasco Barata,Sara Bernardo-Castro,Nils Henninger,Jayachandra Muppa,Marcel Arnold,Ahmad Nehme,Aaron Rothstein,Ossama Khazaal,Josefin E Kaufmann,Stefan T Engelter,Christopher Traenka,Issa Metanis,Ronen R Leker,Christian H Nolte,Malik Ghannam,Edgar A Samaniego,Mohammad AlMajali,Alexandre Y Poppe,Michele Romoli,Jennifer A Frontera,Marialuisa Zedde,Wayneho Kam,Brian Mac Grory,Faddi Ghassan Saleh Velez,Tamra Ranasinghe,James E Siegler,Adeel S Zubair,João Pedro Marto,Piers Klein,Thanh N Nguyen,Mohamad Abdalkader,Gabriel Paulo Mantovani,Alexis N Simpkins,Shayak Sen,Marwa Elnazeir,Shadi Yaghi,Joao Sargento-Freitas,Manuel Requena
    Source: Stroke
    Background: The optimal endovascular management of cervical carotid dissection causing tandem occlusion remains uncertain. We investigated the impact of emergent carotid stenting during endovascular treatment (EVT) for acute ischemic stroke (AIS) in patients with tandem occlusion secondary to cervical carotid artery dissection. Methods: This was a secondary analysis of patients treated with EVT for AIS due to occlusive carotid artery dissection and tandem occlusion included in the retrospective...

  • Efficacy and safety of mechanical thrombectomy in distal medium middle cerebral artery occlusion ischemic stroke patients on low-dose aspirin

    Tuesday, January 28, 2025
    Author(s): Hamza Adel Salim,Vivek Yedavalli,Fathi Milhem,Basel Musmar,Nimer Adeeb,Motaz Daraghma,Kareem El Naamani,Nils Henninger,Sri Hari Sundararajan,Anna Luisa Kühn,Jane Khalife,Sherief Ghozy,Luca Scarcia,Benjamin Yq Tan,Robert W Regenhardt,Jeremy J Heit,Nicole M Cancelliere,Joshua D Bernstock,Aymeric Rouchaud,Jens Fiehler,Sunil Sheth,Ajit S Puri,Christian Dyzmann,Marco Colasurdo,Leonardo Renieri,João Pedro Filipe,Pablo Harker,Răzvan Alexandru Radu,Mohamad Abdalkader,Piers Klein,Thomas R Marotta,Julian Spears,Takahiro Ota,Ashkan Mowla,Pascal Jabbour,Arundhati Biswas,Frédéric Clarençon,James E Siegler,Thanh N Nguyen,Ricardo Varela,Amanda Baker,Muhammed Amir Essibayi,David Altschul,Nestor R Gonzalez,Markus A Möhlenbruch,Vincent Costalat,Benjamin Gory,Christian Paul Stracke,Constantin Hecker,Hamza Shaikh,Christoph J Griessenauer,David S Liebeskind,Alessandro Pedicelli,Andrea M Alexandre,Illario Tancredi,Tobias D Faizy,Erwah Kalsoum,Max Wintermark,Boris Lubicz,Aman B Patel,Vitor Mendes Pereira,Adrien Guenego,Adam A Dmytriw
    Source: International journal of stroke : official journal of the International Stroke Society
    CONCLUSIONS: Pre-stroke low-dose aspirin was associated with improved functional outcomes and reduced mortality in patients with DMVO undergoing MT, without a significant increase in sICH. These findings suggest that low-dose aspirin may be safe and associated with more frequent excellent outcomes for this patient population. Further prospective studies are needed to validate these results and assess long-term outcomes.

  • Clinical outcomes of patients with unsuccessful mechanical thrombectomy versus best medical management of medium vessel occlusion stroke in the middle cerebral artery territory

    Friday, January 24, 2025
    Author(s): Tobias D Faizy,Vivek Yedavalli,Hamza Adel Salim,Dhairya A Lakhani,Basel Musmar,Nimer Adeeb,Muhammed Amir Essibayi,Motaz Daraghma,Kareem El Naamani,Nils Henninger,Sri Hari Sundararajan,Anna Luisa Kuhn,Jane Khalife,Sherief Ghozy,Luca Scarcia,Leonard Ll Yeo,Benjamin Yq Tan,Robert W Regenhardt,Jeremy Josef Heit,Nicole M Cancelliere,Aymeric Rouchaud,Jens Fiehler,Sunil A Sheth,Ajit S Puri,Christian Dyzmann,Marco Colasurdo,Leonardo Renieri,João Pedro Filipe,Pablo Harker,Răzvan Alexandru Radu,Mohamad Abdalkader,Piers Klein,Thomas R Marotta,Julian Spears,Takahiro Ota,Ashkan Mowla,Pascal Jabbour,Arundhati Biswas,Frédéric Clarençon,James E Siegler,Thanh N Nguyen,Ricardo Varela,Amanda Baker,David Altschul,Nestor Gonzalez,Markus A Möhlenbruch,Vincent Costalat,Benjamin Gory,Christian Paul Stracke,Constantin Hecker,Gaultier Marnat,Hamza Shaikh,Christoph J Griessenauer,David S Liebeskind,Alessandro Pedicelli,Andrea Maria Alexandre,Illario Tancredi,Erwah Kalsoum,Max Wintermark,Boris Lubicz,Aman B Patel,Vitor Mendes Pereira,Adam A Dmytriw,Adrien Guenego,MAD-MT Investigators
    Source: Journal of neurointerventional surgery
    CONCLUSION: Unsuccessful MT for MeVO was linked to worse outcomes than best MM. These findings highlight the risks of prolonged attempts and emphasize the importance of efficient procedural decision-making to reduce complications and improve patient outcomes.

  • Psychosocial Support Needs and Preferences Among Family Caregivers of ICU Patients with Severe Acute Brain Injury: A Qualitative Thematic Analysis

    Friday, January 17, 2025
    Author(s): David Y Hwang,Mira Reichman,Sarah M Bannon,Kate Meurer,Rina Kubota,Jisoo Kim,Nithyashri Baskaran,Qiang Zhang,Nathan S Fishbein,Kaitlyn Lichstein,Alexander M Presciutti,Emily C Woodworth,Melissa Motta,Susanne Muehlschlegel,Michael E Reznik,Matthew N Jaffa,Claire J Creutzfeldt,Corey R Fehnel,Amanda D Tomlinson,Craig A Williamson,Ana-Maria Vranceanu,Coma Family Investigators
    Source: Neurocritical care
    CONCLUSIONS: Our findings provide specific recommendations to justify and inform the development and adaptation of psychosocial support services for SABI caregivers for delivery in the ICU and after discharge.

  • Epigenetics in Neurodegenerative Diseases

    Friday, January 17, 2025
    Author(s): Brigitte van Zundert,Martin Montecino
    Source: Sub-cellular biochemistry
    Healthy brain functioning requires a continuous fine-tuning of gene expression, involving changes in the epigenetic landscape and 3D chromatin organization. Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS), and frontotemporal dementia (FTD) are three multifactorial neurodegenerative diseases (NDDs) that are partially explained by genetics (gene mutations and genetic risk factors) and influenced by non-genetic factors (i.e., aging, lifestyle, and environmental conditions). Examining...

  • Epigenetics in Learning and Memory

    Friday, January 17, 2025
    Author(s): Brigitte van Zundert,Martin Montecino
    Source: Sub-cellular biochemistry
    In animals, memory formation and recall are essential for their survival and for adaptations to a complex and often dynamically changing environment. During memory formation, experiences prompt the activation of a selected and sparse population of cells (engram cells) that undergo persistent physical and/or chemical changes allowing long-term memory formation, which can last for decades. Over the past few decades, important progress has been made on elucidating signaling mechanisms by which...

  • Paramagnetic rim lesion formation is predicted by the initial gadolinium-enhancing lesion diameter

    Friday, January 17, 2025
    Author(s): Mustafa Al Gburi,Maria Mazzola,Martina Absinta,María I Gaitán,Daniel S Reich,Sathish K Dundamadappa,Christopher C Hemond
    Source: Multiple sclerosis (Houndmills, Basingstoke, England)
    CONCLUSIONS: The long-axis diameter of a CEL is the best translational predictor of subsequent PRL formation at follow-up. This measure holds promise as a method to identify patients at high risk of chronic active lesion formation during the acute inflammatory window.

  • Outcomes of mechanical thrombectomy for medium vessel occlusion in acute ischemic stroke patients with ASPECTS 4-5 vs. 6-7: a retrospective, multicenter, and multinational study

    Wednesday, January 15, 2025
    Author(s): Basel Musmar,Hamza Adel Salim,Nimer Adeeb,Vivek Yedavalli,Dhairya Lakhani,Kareem El Naamani,Nils Henninger,Sri Hari Sundararajan,Anna Luisa Kühn,Jane Khalife,Sherief Ghozy,Luca Scarcia,Benjamin Y Q Tan,Robert W Regenhardt,Jeremy J Heit,Nicole M Cancelliere,Joshua D Bernstock,Aymeric Rouchaud,Jens Fiehler,Sunil Sheth,Ajit S Puri,Christian Dyzmann,Marco Colasurdo,Xavier Barreau,Leonardo Renieri,João Pedro Filipe,Pablo Harker,Răzvan Alexandru Radu,Mohamad Abdalkader,Piers Klein,Thomas R Marotta,Julian Spears,Takahiro Ota,Ashkan Mowla,Pascal Jabbour,Arundhati Biswas,Frédéric Clarençon,James E Siegler,Thanh N Nguyen,Ricardo Varela,Amanda Baker,Muhammed Amir Essibayi,David Altschul,Nestor R Gonzalez,Markus A Möhlenbruch,Vincent Costalat,Benjamin Gory,Christian Paul Stracke,Mohammad Ali Aziz-Sultan,Constantin Hecker,Hamza Shaikh,David S Liebeskind,Alessandro Pedicelli,Andrea M Alexandre,Illario Tancredi,Tobias D Faizy,Erwah Kalsoum,Boris Lubicz,Aman B Patel,Vitor Mendes Pereira,Adrien Guenego,Adam A Dmytriw,MAD MT Investigators
    Source: Neuroradiology
    CONCLUSION: MT may be associated with improved outcomes in patients with moderate-to-low ASPECTS (6-7), though the lack of a control group limits definitive conclusions about its effectiveness. In patients with very low ASPECTS (4-5), higher rates of hemorrhagic complications and poorer outcomes were observed, but this does not necessarily preclude the use of MT. These findings highlight the need for further research and careful patient selection.

  • A Real-World Prospective Multiple Sclerosis Pregnancy Registry in the United States: PREG-MS

    Wednesday, January 15, 2025
    Author(s): Maria K Houtchens,Maria Claudia Manieri,Tatenda Dawn Mahlanza,Jeta Pol-Patil,Eric C Klawiter,Andrew J Solomon,Ellen Lathi,Joshua Katz,Carolina Ionete,Idanis Berrios Morales,Christopher Severson,Jonathan Zurawski,James M Stankiewicz,Ann Cabot,Adele Dessa Sadovnick
    Source: Neurology. Clinical practice
    BACKGROUND AND OBJECTIVES: Multiple sclerosis (MS) affects more than 1 million people in the United States, including reproductive-age women. There has been a paucity of prospective, pregnancy registries based on MS disease rather than medication exposures. A prospective MS pregnancy registry (PREG-MS) was established in 2017 as a prospective, single-cohort, real-world MS pregnancy registry in New England States of the United States, with goals to evaluate (1) course of MS and disease-modifying...

  • Genetic Ablation of Sarm1 Mitigates Disease Acceleration after Traumatic Brain Injury in the SOD1G93A Transgenic Mouse Model of Amyotrophic Lateral Sclerosis

    Friday, January 10, 2025
    Author(s): Elif O Dogan,Sean R Simonini,James Bouley,Alexandra Weiss,Robert H Brown,Nils Henninger
    Source: Annals of neurology
    OBJECTIVE: Approximately 20% of familial cases of amyotrophic lateral sclerosis (ALS) are caused by mutations in the gene encoding superoxide dismutase 1 (SOD1). Epidemiological data have identified traumatic brain injury (TBI) as an exogenous risk factor for ALS; however, the mechanisms by which TBI may worsen SOD1 ALS remain largely undefined.

  • Education Research: The Neurohumanities in Training: Integrating a Humanities Curriculum Within Neurology Residency Programs

    Friday, January 03, 2025
    Author(s): Mattia Rosso,Tatiana Greige,Charles Palmer,Greta Solinap Peng,Rumyar V Ardakani,Alexander Frolov,Manju George,Raphael Arellano Carandang,Galina Gheihman,Michael P H Stanley
    Source: Neurology. Education
    BACKGROUND AND OBJECTIVES: Perhaps stemming from the central role of detailed examinations and a focus on the subjective sphere that grounds their clinical practice, neurologists have frequently opined on experiences traditionally a province of humanities. The increasingly technological focus on medical education and care can be seen to devalue the subjective aspects of medicine. As a counter to this, we report on the existence of neurohumanities curricula within neurology residency training.

  • Author Correction: Octyl itaconate enhances VSVΔ51 oncolytic virotherapy by multitarget inhibition of antiviral and inflammatory pathways

    Friday, December 20, 2024
    Author(s): Naziia Kurmasheva,Aida Said,Boaz Wong,Priscilla Kinderman,Xiaoying Han,Anna H F Rahimic,Alena Kress,Madalina E Carter-Timofte,Emilia Holm,Demi van der Horst,Christoph F Kollmann,Zhenlong Liu,Chen Wang,Huy-Dung Hoang,Elina Kovalenko,Maria Chrysopoulou,Krishna Sundar Twayana,Rasmus N Ottosen,Esben B Svenningsen,Fabio Begnini,Anders E Kiib,Florian E H Kromm,Hauke J Weiss,Daniele Di Carlo,Michela Muscolini,Maureen Higgins,Mirte van der Heijden,Rozanne Arulanandam,Angelina Bardoul,Tong Tong,Attila Ozsvar,Wen-Hsien Hou,Vivien R Schack,Christian K Holm,Yunan Zheng,Melanie Ruzek,Joanna Kalucka,Laureano de la Vega,Walid A M Elgaher,Anders R Korshoej,Rongtuan Lin,John Hiscott,Thomas B Poulsen,Luke A O'Neill,Dominic G Roy,Markus M Rinschen,Nadine van Montfoort,Jean-Simon Diallo,Henner F Farin,Tommy Alain,David Olagnier
    Source: Nature communications
    No abstract

  • Alzheimer's disease-associated CD83(+) microglia are linked with increased immunoglobulin G4 and human cytomegalovirus in the gut, vagal nerve, and brain

    Thursday, December 19, 2024
    Author(s): Benjamin P Readhead,Diego F Mastroeni,Qi Wang,Maria A Sierra,Camila de Ávila,Tajudeen O Jimoh,Jean-Vianney Haure-Mirande,Kristina E Atanasoff,Jennifer Nolz,Crystal Suazo,Nathaniel J Barton,Adrian R Orszulak,Samantha M Chigas,Khanh Tran,Anne Mirza,Krista Ryon,Jacqueline Proszynski,Deena Najjar,Joel T Dudley,Sean T H Liu,Sam Gandy,Michelle E Ehrlich,Eric Alsop,Jerry Antone,Rebecca Reiman,Cory Funk,Rebecca L Best,Michael Jhatro,Kathy Kamath,John Shon,Timothy F Kowalik,David A Bennett,Winnie S Liang,Geidy E Serrano,Thomas G Beach,Kendall Van Keuren-Jensen,Christopher E Mason,Yingleong Chan,Elaine T Lim,Domenico Tortorella,Eric M Reiman
    Source: Alzheimer's & dementia : the journal of the Alzheimer's Association
    INTRODUCTION: While there may be microbial contributions to Alzheimer's disease (AD), findings have been inconclusive. We recently reported an AD-associated CD83(+) microglia subtype associated with increased immunoglobulin G4 (IgG4) in the transverse colon (TC).

  • Herpes Simplex Virus 1 Infection of Human Brain Organoids and Pancreatic Stem Cell-Islets Drives Organoid-Specific Transcripts Associated with Alzheimer's Disease and Autoimmune Diseases

    Tuesday, December 17, 2024
    Author(s): Jonathan Sundstrom,Emma Vanderleeden,Nathaniel J Barton,Sambra D Redick,Pepper Dawes,Liam F Murray,Meagan N Olson,Khanh Tran,Samantha M Chigas,Adrian R Orszulak,George M Church,Benjamin Readhead,Hyung Suk Oh,David M Harlan,David M Knipe,Jennifer P Wang,Yingleong Chan,Elaine T Lim
    Source: Cells
    Viral infections leading to inflammation have been implicated in several common diseases, such as Alzheimer's disease (AD) and type 1 diabetes (T1D). Of note, herpes simplex virus 1 (HSV-1) has been reported to be associated with AD. We sought to identify the transcriptomic changes due to HSV-1 infection and anti-viral drug (acyclovir, ACV) treatment of HSV-1 infection in dissociated cells from human cerebral organoids (dcOrgs) versus stem cell-derived pancreatic islets (sc-islets) to gain...

  • Advancing LGBTQI+ Equity in Neurology: An AAN Position Statement

    Tuesday, December 10, 2024
    Author(s): Nicole Rosendale,Z Paige L'Erario,Deanna Ekholm,Wissam Deeb,Gwen Zeigler,Cole A Harrington,Richard T Benson,Nimish A Mohile,Roy H Hamilton,H E Hinson,Diversity, Equity, and Inclusion Committee
    Source: Neurology
    No abstract

  • Differential outcomes and treatment in non-traumatic carotid versus vertebral cervical artery dissection: A national inpatient sample study

    Sunday, December 08, 2024
    Author(s): Elizabeth Lee,Liqi Shu,Setareh Salehi Omran,Eric D Goldstein,Nils Henninger,Thanh N Nguyen,James E Siegler,Lukas Strelecky,Farhan Khan,Christoph Stretz,Karen L Furie,Shadi Yaghi
    Source: Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
    CONCLUSION: Our study underscores distinct comorbidity profiles and treatment patterns between non-traumatic carotid dissection and vertebral dissection groups. These findings advocate for tailored treatment strategies based on dissection type to optimize patient outcomes.

  • Development of web- and mobile-based shared decision-making tools in the neurological intensive care unit

    Friday, December 06, 2024
    Author(s): Winnie L Liu,Lidan Zhang,Soussan Djamasbi,Bengisu Tulu,Susanne Muehlschlegel
    Source: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
    In the neurological intensive care unit (neuroICU), patients with severe acute brain injury (SABI) are rendered unable to make their own healthcare decisions. The responsibility of making life-or-death decisions, such as goals of care, is carried by surrogate decision-makers, usually families. In addition to the burden of decision-making, the emotional burden on families is further compounded by prognostication uncertainty, time-pressure for decision-making, and difficulties in understanding and...

  • Endovascular therapy versus medical management in isolated anterior cerebral artery acute ischemic stroke: a multinational multicenter propensity score-weighted study

    Friday, November 29, 2024
    Author(s): Hamza Adel Salim,Benjamin Pulli,Vivek Yedavalli,Fathi Milhem,Basel Musmar,Nimer Adeeb,Dhairya A Lakhani,Muhammed Amir Essibayi,Jeremy Josef Heit,Tobias D Faizy,Kareem El Naamani,Nils Henninger,Sri Hari Sundararajan,Anna Luisa Kuhn,Jane Khalife,Sherief Ghozy,Luca Scarcia,Leonard Ll Yeo,Benjamin Yq Tan,Robert W Regenhardt,Nicole M Cancelliere,Aymeric Rouchaud,Jens Fiehler,Sunil A Sheth,Ajit S Puri,Christian Dyzmann,Marco Colasurdo,Leonardo Renieri,João Pedro Filipe,Pablo Harker,Răzvan Alexandru Radu,Mohamad Abdalkader,Piers Klein,Thomas R Marotta,Julian Spears,Takahiro Ota,Ashkan Mowla,Pascal Jabbour,Arundhati Biswas,Frédéric Clarençon,James E Siegler,Thanh N Nguyen,Ricardo Varela,Amanda Baker,David Altschul,Nestor Gonzalez,Markus A Möhlenbruch,Vincent Costalat,Benjamin Gory,Paul Stracke,Constantin Hecker,Gaultier Marnat,Hamza Shaikh,Christoph J Griessenauer,David S Liebeskind,Alessandro Pedicelli,Andrea Maria Alexandre,Illario Tancredi,Erwah Kalsoum,Boris Lubicz,Aman B Patel,Vitor Mendes Pereira,Max Wintermark,Adrien Guenego,Adam A Dmytriw,MAD-MT Investigators
    Source: Journal of neurointerventional surgery
    CONCLUSIONS: EVT showed high procedural success but did not significantly improve functional outcomes or mortality compared with BMT in patients with ACAo. Further randomized trials are needed to clarify EVT's role in ACAo.

  • Inflammatory cytokines disrupt astrocyte exosomal HepaCAM-mediated protection against neuronal excitotoxicity in the SOD1G93A ALS model

    Wednesday, November 27, 2024
    Author(s): Shijie Jin,Yang Tian,Jonathan Hacker,Xuan Chen,Marcela Bertolio,Caroline Reynolds,Rachel Jarvis,Jingwen Hu,Vanessa Promes,Dilara Halim,Fen-Biao Gao,Yongjie Yang
    Source: Science advances
    Astrocyte secreted signals substantially affect disease pathology in neurodegenerative diseases. It remains little understood about how proinflammatory cytokines, such as interleukin-1α/tumor necrosis factor-α/C1q (ITC), often elevated in neurodegenerative diseases, alter astrocyte-secreted signals and their effects in disease pathogenesis. By selectively isolating astrocyte exosomes (A-Exo.) and employing cell type-specific exosome reporter mice, our current study showed that ITC cytokines...

  • Quantifying and mitigating motor phenotypes induced by antisense oligonucleotides in the central nervous system

    Saturday, October 26, 2024
    Author(s): Michael P Moazami,Julia M Rembetsy-Brown,Samantha L Sarli,Holly R McEachern,Feng Wang,Masahiro Ohara,Atish Wagh,Karen Kelly,Pranathi Meda Krishnamurthy,Alexandra Weiss,Miklos Marosfoi,Robert M King,Mona Motwani,Heather Gray-Edwards,Katherine A Fitzgerald,Robert H Brown,Jonathan K Watts
    Source: Molecular therapy : the journal of the American Society of Gene Therapy
    Antisense oligonucleotides (ASOs) are emerging as a promising class of therapeutics for neurological diseases. When injected directly into cerebrospinal fluid, ASOs distribute broadly across brain regions and exert long-lasting therapeutic effects. However, many phosphorothioate (PS)-modified gapmer ASOs show transient motor phenotypes when injected into the cerebrospinal fluid, ranging from reduced motor activity to ataxia or acute seizure-like phenotypes. Using a behavioral scoring assay...

  • Skeletal myotubes expressing ALS mutant SOD1 induce pathogenic changes, impair mitochondrial axonal transport, and trigger motoneuron death

    Friday, October 25, 2024
    Author(s): Pablo Martínez,Mónica Silva,Sebastián Abarzúa,María Florencia Tevy,Enrique Jaimovich,Martha Constantine-Paton,Fernando J Bustos,Brigitte van Zundert
    Source: Molecular medicine (Cambridge, Mass.)
    Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the loss of motoneurons (MNs), and despite progress, there is no effective treatment. A large body of evidence shows that astrocytes expressing ALS-linked mutant proteins cause non-cell autonomous toxicity of MNs. Although MNs innervate muscle fibers and ALS is characterized by the early disruption of the neuromuscular junction (NMJ) and axon degeneration, there are controversies about whether muscle...

  • Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data

    Tuesday, October 22, 2024
    Author(s): Sara Saez-Atienzar,Cleide Dos Santos Souza,Ruth Chia,Selina N Beal,Ileana Lorenzini,Ruili Huang,Jennifer Levy,Camelia Burciu,Jinhui Ding,J Raphael Gibbs,Ashley Jones,Ramita Dewan,Viviana Pensato,Silvia Peverelli,Lucia Corrado,Joke J F A van Vugt,Wouter van Rheenen,Ceren Tunca,Elif Bayraktar,Menghang Xia,International ALS Genomics Consortium,ITALSGEN Consortium,SLAGEN Consortium,Project MinE ALS Sequencing Consortium,Alfredo Iacoangeli,Aleksey Shatunov,Cinzia Tiloca,Nicola Ticozzi,Federico Verde,Letizia Mazzini,Kevin Kenna,Ahmad Al Khleifat,Sarah Opie-Martin,Flavia Raggi,Massimiliano Filosto,Stefano Cotti Piccinelli,Alessandro Padovani,Stella Gagliardi,Maurizio Inghilleri,Alessandra Ferlini,Rosario Vasta,Andrea Calvo,Cristina Moglia,Antonio Canosa,Umberto Manera,Maurizio Grassano,Jessica Mandrioli,Gabriele Mora,Christian Lunetta,Raffaella Tanel,Francesca Trojsi,Patrizio Cardinali,Salvatore Gallone,Maura Brunetti,Daniela Galimberti,Maria Serpente,Chiara Fenoglio,Elio Scarpini,Giacomo P Comi,Stefania Corti,Roberto Del Bo,Mauro Ceroni,Giuseppe Lauria Pinter,Franco Taroni,Eleonora Dalla Bella,Enrica Bersano,Charles J Curtis,Sang Hyuck Lee,Raymond Chung,Hamel Patel,Karen E Morrison,Johnathan Cooper-Knock,Pamela J Shaw,Gerome Breen,Richard J B Dobson,Clifton L Dalgard,American Genome Center,Sonja W Scholz,Ammar Al-Chalabi,Leonard H van den Berg,Russell McLaughlin,Orla Hardiman,Cristina Cereda,Gianni Sorarù,Sandra D'Alfonso,Siddharthan Chandran,Suvankar Pal,Antonia Ratti,Cinzia Gellera,Kory Johnson,Tara Doucet-O'Hare,Nicholas Pasternack,Tongguang Wang,Avindra Nath,Gabriele Siciliano,Vincenzo Silani,Ayşe Nazlı Başak,Jan H Veldink,William Camu,Jonathan D Glass,John E Landers,Adriano Chiò,Rita Sattler,Christopher E Shaw,Laura Ferraiuolo,Isabella Fogh,Bryan J Traynor
    Source: Cell genomics
    Repeat expansions in the C9orf72 gene are the most common genetic cause of (ALS) and frontotemporal dementia (FTD). Like other genetic forms of neurodegeneration, pinpointing the precise mechanism(s) by which this mutation leads to neuronal death remains elusive, and this lack of knowledge hampers the development of therapy for C9orf72-related disease. We used an agnostic approach based on genomic data (n = 41,273 ALS and healthy samples, and n = 1,516 C9orf72 carriers) to overcome these...

  • Phenotyping in vivo chronic inflammation in multiple sclerosis by combined 11C-PBR28 MR-PET and 7T susceptibility-weighted imaging

    Tuesday, October 22, 2024
    Author(s): Constantina A Treaba,Elena Herranz,Valeria T Barletta,Ambica Mehndiratta,Jacob A Sloane,Tobias Granberg,Alessandro Miscioscia,Roberto Bomprezzi,Marco L Loggia,Caterina Mainero
    Source: Multiple sclerosis (Houndmills, Basingstoke, England)
    CONCLUSION: ^(11)C-PBR28 imaging reveals more active WM lesions than 7T PRL assessment. Although PRL and PET active lesion counts are related, neurological disability is better explained by PET whole active lesion volume.

  • Development and Validation of a Clinical Score to Predict Epilepsy After Cerebral Venous Thrombosis

    Monday, October 21, 2024
    Author(s): Erik Lindgren,Liqi Shu,Naaem Simaan,Katarzyna Krzywicka,Maria A de Winter,Mayte Sánchez van Kammen,Jeremy Molad,Piers Klein,Hen Hallevi,Rani Barnea,Mirjam R Heldner,Sini Hiltunen,Diana Aguiar de Sousa,José M Ferro,Antonio Arauz,Jukka Putaala,Marcel Arnold,Thanh N Nguyen,Christoph Stretz,Turgut Tatlisumak,Katarina Jood,Shadi Yaghi,Ronen R Leker,Jonathan M Coutinho,DIAS research collaboration,Maryam Mansour,Patrícia Canhão,Esme Ekizoglu,Miguel Rodrigues,Elisa M Silva,Carlos Garcia-Esperon,Valentina Arnao,Shorooq Aladin,Rom Mendel,Paolo Aridon,Mine Sezgin,Andrey Alasheev,Andrey Smolkin,Daniel Guisado-Alonso,Nilufer Yesilot,Miguel A Barboza,Masoud Ghiasian,Suzanne M Silvis,Ton Fang,James E Siegler,Teddy Wu,Duncan Wilson,Syed Daniyal Asad,Sami Al Kasab,Eyad Almallouhi,Jennifer Frontera,Aaron Rothstein,Ekaterina Bakradze,Setareh Salehi Omran,Nils Henninger,Lindsey Kuohn,Adeel Zubair,Richa Sharma,Deborah Kerrigan,Yasmin Aziz,Eva Mistry,Susanna M Zuurbier
    Source: JAMA neurology
    CONCLUSIONS AND RELEVANCE: The DIAS3 score (freely available online) is a simple tool that can help predict the risk of post-CVT epilepsy in individual patients. The model can improve opportunities for personalized medicine and may aid in decision-making regarding antiseizure medication, patient counseling, and facilitation of research on epileptogenesis in CVT.

  • Endovascular therapy versus medical management in isolated posterior cerebral artery acute ischemic stroke: A multinational multicenter propensity score-weighted study

    Monday, October 21, 2024
    Author(s): Hamza Adel Salim,Benjamin Pulli,Vivek Yedavalli,Basel Musmar,Nimer Adeeb,Dhairya Lakhani,Muhammed Amir Essibayi,Kareem El Naamani,Nils Henninger,Sri Hari Sundararajan,Anna Luisa Kühn,Jane Khalife,Sherief Ghozy,Luca Scarcia,Inayat Grewal,Benjamin Yq Tan,Robert W Regenhardt,Jeremy J Heit,Nicole M Cancelliere,Joshua D Bernstock,Aymeric Rouchaud,Jens Fiehler,Sunil Sheth,Ajit S Puri,Christian Dyzmann,Marco Colasurdo,Xavier Barreau,Leonardo Renieri,João Pedro Filipe,Pablo Harker,Răzvan Alexandru Radu,Mohamad Abdalkader,Piers Klein,Thomas R Marotta,Julian Spears,Takahiro Ota,Ashkan Mowla,Pascal Jabbour,Arundhati Biswas,Frédéric Clarençon,James E Siegler,Thanh N Nguyen,Ricardo Varela,Amanda Baker,David Altschul,Nestor R Gonzalez,Markus A Möhlenbruch,Vincent Costalat,Benjamin Gory,Christian Paul Stracke,Mohammad Ali Aziz-Sultan,Constantin Hecker,Hamza Shaikh,Christoph J Griessenauer,David S Liebeskind,Alessandro Pedicelli,Andrea M Alexandre,Illario Tancredi,Tobias D Faizy,Erwah Kalsoum,Boris Lubicz,Aman B Patel,Vitor Mendes Pereira,Max Wintermark,Adrien Guenego,Adam A Dmytriw
    Source: European stroke journal
    CONCLUSION: EVT for iPCAo is associated with better neurological outcomes and lower mortality compared to MM, without an increased risk of hemorrhagic complications. Nevertheless, these results should be interpreted with caution due to the study's observational design. The findings are hypothesis-generating and highlight the need for future randomized controlled trials to confirm these observations and establish definitive treatment guidelines for this patient population.

  • Correction: Common Data Elements for Disorders of Consciousness: Recommendations from the Working Group on Goals-of-Care and Family/Surrogate Decision-Maker Data

    Tuesday, October 15, 2024
    Author(s): Matthew N Jaffa,Hannah L Kirsch,Claire J Creutzfeldt,Mary Guanci,David Y Hwang,Darlene LeTavec,Dea Mahanes,Girija Natarajan,Alexis Steinberg,Darin B Zahuranec,Susanne Muehlschlegel,Curing Coma Campaign Collaborators
    Source: Neurocritical care
    No abstract

  • Outcomes and Recurrence Rates Among Patients With Provoked and Cryptogenic Cerebral Venous Thrombosis: Analysis of the ACTION CVT

    Monday, October 14, 2024
    Author(s): Sami Al Kasab,Eyad Almallouhi,Liqi Shu,Kimberly P Kicielinski,Setareh Salehi Omran,David S Liebeskind,Adeel S Zubair,Maria C Vedovati,Maurizio Paciaroni,Kateryna Antonenko,Mirjam R Heldner,Adam de Havenon,Nils Henninger,Shadi Yaghi
    Source: Neurology. Clinical practice
    BACKGROUND AND OBJECTIVES: Cerebral venous thrombosis (CVT) is a rare cause of stroke. While the standard treatment is anticoagulation, the type and duration of anticoagulation depends on the underlying etiology. This study aims to identify prevalence, risk factors, and recurrent venous thromboembolism (VTE) rates among patients with idiopathic (cryptogenic) CVT and CVT provoked by transient (peripartum, hormonal treatment, infection, trauma) and persistent (cancer, thrombophilia) factors.

  • Association Between LACE+ Index Risk Category and 90-Day Mortality After Stroke

    Monday, October 14, 2024
    Author(s): Adalia Jun-O'Connell,Brian Silver,Eliza Grigoriciuc,Akanksha Gulati,Kimiyoshi J Kobayashi,Nils Henninger
    Source: Neurology. Clinical practice
    BACKGROUND AND OBJECTIVES: A higher LACE+ index risk category (defined as LACE+ score ≥78) typically calculated before hospital discharge has been associated with increased risk of unplanned 30-day hospital readmissions and early death after hospital discharge. However, its utility to predict poststroke mortality is unknown. Here, we examined whether the LACE+ index risk category assessed at both discharge (dLACE+) and admission (aLACE+) was associated with 90-day mortality after stroke.

  • Emerging roles of antimicrobial peptides in innate immunity, neuronal function, and neurodegeneration

    Thursday, October 10, 2024
    Author(s): Soojin Lee,Neal Silverman,Fen-Biao Gao
    Source: Trends in neurosciences
    Antimicrobial peptides (AMPs), a collection of small proteins with important roles in classical innate immunity, have been extensively studied in multiple organisms, particularly in Drosophila melanogaster. Advances in CRISPR/Cas9 genome editing have allowed individual AMP functions to be dissected, revealing specific and selective roles in host defense. Recent findings have also revealed many unexpected contributions of endogenous AMPs to neuronal functions and neurodegenerative diseases, and...

  • Cytogenetic bands and sharp peaks of Alu underlie large-scale segmental regulation of nuclear genome architecture

    Tuesday, October 08, 2024
    Author(s): Lisa L Hall,Kevin M Creamer,Meg Byron,Jeanne B Lawrence
    Source: Nucleus (Austin, Tex.)
    Cytogenetic bands reflect genomic organization in large blocks of DNA with similar properties. Because banding patterns are invariant, this organization may often be assumed unimportant for genome regulation. Results here challenge that view. Findings here suggest cytogenetic bands reflect a visible framework upon which regulated genome architecture is built. Given Alu and L1 densities differ in cytogenetic bands, we examined their distribution after X-chromosome inactivation or formation of...

  • Paramagnetic Rim Lesions are Highly Specific for Multiple Sclerosis in Real-World Data

    Monday, October 07, 2024
    Author(s): Christopher C Hemond,Sathish K Dundamadappa,Mugdha Deshpande,Jonggyu Baek,Robert H Brown,Carolina Ionete,Daniel S Reich
    Source: medRxiv : the preprint server for health sciences
    CONCLUSIONS: PRL convey high specificity for MS and can aid in the diagnostic evaluation. Modest sensitivity limits their use as single diagnostic indicators. Including lesions with lower confidence ("possible" PRL) rapidly erodes specificity and should be interpreted with caution given the potential harms associated with misdiagnosis.

  • Crucial role of Snf7-3 in synaptic function and cognitive behavior revealed by conventional and conditional knockout mouse models

    Sunday, October 06, 2024
    Author(s): Hyopil Kim,Jae-Woo Jang,Su-Eon Sim,Jisu Lee,June-Hyun Jeong,Semin Park,You-Kyung Lee,Hyun-Ji Ham,Nam-Kyung Yu,Chae-Seok Lim,Fen-Biao Gao,Jin-A Lee,Bong-Kiun Kaang
    Source: Neuroscience
    Snf7-3 is a crucial component of the endosomal sorting complexes required for transport (ESCRT) pathway, playing a vital role in endolysosomal functions. To elucidate the role of Snf7-3 in vivo, we developed conventional-like and conditional Snf7-3 knockout (KO) mouse models using a "Knockout-first" strategy. Conventional-like Snf7-3 KO mice showed significantly reduced Snf7-3 mRNA expression, and older mice (25-40 weeks) exhibited impaired social recognition and increased miniature excitatory...

  • Opinion: can we bust the fear of symptomatic intracerebral hemorrhage due to tPA?

    Friday, October 04, 2024
    Author(s): Adalia H Jun-O'Connell
    Source: Frontiers in neurology
    No abstract

  • Curriculum Innovations: Enhancing Skills in Serious Illness Communication in Neurology Residents Using Simulation: A Pilot Study

    Thursday, October 03, 2024
    Author(s): Marcey Osgood,Brian Silver,Jennifer Reidy,Vandana Nagpal
    Source: Neurology. Education
    BACKGROUND AND PROBLEM STATEMENT: Patients with acute ischemic stroke are faced with prognostic uncertainty, progressive decline, and early mortality. Many neurologists report a lack of education and experience in providing palliative care. We developed a simulation-based curriculum to improve residents' confidence and comfort with conducting late-stage goals of care (GOC) conversations.