Results 191 to 200 of about 47,850 (263)

Neuropathy With Demyelinating Features in a Patient With Biallelic HARS1 Variants

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background and Aims The HARS1 gene encodes cytoplasmic histidyl‐tRNA synthetase, which catalyzes the ligation of histidine to tRNAHIS in the cytoplasm as an early step in protein biosynthesis and is essential for cell viability. Pathogenic variants in HARS1 have been associated with three phenotypes: autosomal dominant Charcot–Marie–Tooth (CMT)
Christina Del Greco, Allison R. Cale, Karl Haeberlein, Anthony Antonellis, Michael E. Shy, Tiffany Grider   +5 more
wiley   +1 more source

The utilization of efgartigimod in the treatment of acute cerebellar ataxia: a case report. [PDF]

Front Immunol
Yang LL, Ruan Y, Cai F, Xia Y.
europepmc   +1 more source

The Role of Hematopoietic Cell Transplantation in Ataxia‐Telangiectasia

Pediatric Blood &Cancer, Volume 73, Issue 8, August 2026.
ABSTRACT Background Ataxia‐telangiectasia (A‐T) is a DNA repair disorder characterized by neurodegeneration, immunodeficiency, and cancer predisposition. Hematopoietic cell transplantation (HCT) is an established therapy in related disorders such as Fanconi anemia (FA) and Nijmegen breakage syndrome (NBS), but its role in A‐T is unclear.
Laila Alkhouli, Seth Rotz, Masatoshi Takagi, Richa Sharma   +3 more
wiley   +1 more source

Purkinje cell-specific loss of Neurofascin and Ankyrin G causes disruption of axon initial segments, neurodegeneration, and cerebellar ataxia. [PDF]

Front Cell Neurosci
Shi Q, Taylor AM, Sell LB, Bhat MA.
europepmc   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1850-1855, August 2026.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Should Patients Suffering from Degenerative Cerebellar Ataxia Switch from Balance Training to Aerobic Exercise? [PDF]

Mov Disord Clin Pract
Ilg W, Milne S.
europepmc   +1 more source

Progressive Cerebellar Dysfunction, Pituitary Insufficiency, and Severe Skeletal Fragility in Adult Survivorship of Childhood Multisystem Langerhans Cell Histiocytosis: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Childhood‐onset multisystem Langerhans cell histiocytosis can lead to delayed adult morbidity involving the neurologic, hypothalamic–pituitary, and skeletal systems. Progressive cerebellar dysfunction, chronic pituitary insufficiency, and severe skeletal fragility may emerge years after apparent disease control, underscoring the need for ...
Suhaib Alnahar, Alaa Senjab, Sara Gharib, Zena Gharib, Lama Hadid   +4 more
wiley   +1 more source

Successful fresh formulation CD19 CAR-T cell therapy for GAD65 antibody-mediated cerebellar ataxia. A Case Report. [PDF]

Front Immunol
Vaisvilas M, Cernauskiene S, Petrosian D, Giedraitiene N, Stoskus M, Griskevicius L.   +5 more
europepmc   +1 more source

Regression, Ataxia, and Nystagmus in a Toddler: Unraveling a Rare Neurodegenerative Disorder

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Infantile neuroaxonal dystrophy (INAD) should be considered in any toddler presenting with psychomotor regression and cerebellar atrophy, even when basal ganglia iron deposition is absent on initial MRI. Molecular genetic testing of PLA2G6 is essential for definitive diagnosis, enabling accurate genetic counseling and timely multidisciplinary ...
K. Venkataramana Reddy, Agasthya Daggu, Sumanth Reddy Mudiyala, Siddartha Reddy Gangapuram, M. Geethika, Lakshya Nehal Samineni   +5 more
wiley   +1 more source

A first in disease trial of the safety, tolerability, and anti‐seizure effects of ES‐481 in drug‐resistant epilepsy

Epilepsia Open, Volume 11, Issue 4, Page 1329-1342, August 2026.
Abstract Objectives ES‐481 is a novel potent and selective antagonist of TARP‐y8‐dependent AMPA receptors. We aimed to assess the potential efficacy, safety and tolerability, and pharmacokinetics of different doses of ES‐481 as an add‐on anti‐seizure medication (ASM) in adults with drug‐resistant epilepsy (DRE). Methods This was a Phase 2A double‐blind,
Emma C. Foster, Lyn Millist, Jack Germaine, Stephanie Chamorro, Caitlin Roberts, John‐Paul Nicolo, Sean Hosking, Piero Perucca, Saul Mullen, Heather Robinson, Rebecca Wharrie, Brittany Walsh, David Reutens, Kimberley Irwin, Hao Zeng, Robert Niecestro, Terence J. O'Brien   +16 more
wiley   +1 more source