Results 71 to 80 of about 5,459 (165)

CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes

Frontiers in Pediatrics, 2020
Background: The CACNA1A gene encodes the voltage-dependent P/Q-type calcium channel subunit alpha-1A, which is widely expressed throughout the CNS.
Linxia Zhang, Linxia Zhang, Yongxin Wen, Qingping Zhang, Yan Chen, Jiaping Wang, Kaili Shi, Lijun Du, Xinhua Bao   +8 more
doaj   +1 more source

Gait Adaptability Training Improves Gait in Spinocerebellar Ataxia Patients

Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2134-2144, September 2026.
Abstract Background Spinocerebellar ataxia (SCA) is a rare, genetic neurodegenerative movement disorder primarily affecting the cerebellum. So far, there is no available cure for SCA. However, evidence suggests that neurorehabilitation can alleviate symptoms.
Colette J.M. Reniers, Martin E. Johansson, Karen Huisman‐Venrooij, Ivan Toni, Vivian Weerdesteyn, Bart P.C. van de Warrenburg   +5 more
wiley   +1 more source

Progressive ataxia caused by mutation of CACNA1A (c.3451G > A): a case report

Egyptian Journal of Medical Human Genetics
Background Progressive cerebellar ataxia is a genetically heterogeneous neurological disorder. While mutations in the CACNA1A gene are known to cause various spinocerebellar ataxias, reports of specific point mutations leading to the disease in the ...
Wei Chen, Yangyang Liang, Zhaona Song, Xizi Wang, Yilei Xiao, Juan Zheng   +5 more
doaj   +1 more source

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2045-2058, September 2026.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +1 more source

CACNA1A variant associated with generalized dystonia

Introduction CACNA1A gene variants are correlated with different disorders, including episodic ataxia type 2, spinocerebellar ataxia type 6, and familial hemiplegic migraine type 1.
Rizzone, Mario Giorgio, Tangari, Marta Maria, Dematteis, Francesca, Artusi, Carlo Alberto, Lopiano, Leonardo, Ledda, Claudia, Rinaldi, Domiziana   +6 more
core   +1 more source

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2250-2258, September 2026.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source

Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A

Frontiers in Neurology
Pathogenic heterozygous variants in CACNA1A are associated with familial hemiplegic migraine, episodic ataxia type 2 and spinocerebellar ataxia type 6, and more recently, neurodevelopmental disorders. We describe a severe, early-onset phenotype including
Dilbar Mammadova, Cornelia Kraus, Thomas Leis, Bernt Popp, Bernt Popp, Christiane Zweier, Christiane Zweier, Andre Reis, Andre Reis, Regina Trollmann, Regina Trollmann   +10 more
doaj   +1 more source

Central Nervous System Tumors in Xeroderma Pigmentosum: Five Cases and Review of the Literature

Movement Disorders, Volume 41, Issue 9, Page 2523-2528, September 2026.
Abstract Background Xeroderma pigmentosum (XP) is a rare autosomal recessive DNA‐repair disorder characterized by extreme ultraviolet radiation (UVR) sensitivity, markedly increased cutaneous malignancy risk, and progressive neurological disease in approximately one‐third of patients.
Farrah S. Bakr, Huseyin Arisoy, Alan R. Lehmann, Paola Giunti, Hiva Fassihi   +4 more
wiley   +1 more source

Paroxysmal Kinesigenic Dyskinesia and Progressive Ataxia‐Spasticity Syndrome Caused by a Biallelic Variant in KCNJ10

Movement Disorders Clinical Practice, EarlyView.
Clément Desjardins, Jiyoon Baik, Lorenzo Bresciani, Christelle Nilles, Cendrine Foucard, Mathieu Georget, Lina Daghsen, Bertrand Degos, Aurélie Méneret, Emmanuel Roze   +9 more
wiley   +1 more source

Systematic Review of the Huntington's Disease Drug Development Pipeline, 2014 to 2025

Movement Disorders, Volume 41, Issue 9, Page 2267-2277, September 2026.
Abstract Background In the past decade, significant advances have improved our understanding of the mechanisms underlying HD pathobiology leading to several putative therapeutic targets for HD. Objective The aim was to describe the Huntington's disease (HD) drug development clinical pipeline.
Pavlina Konstantinova, Jenny Townhill, Juliana Bronzova, Viktoria Andreeva, Swati Sathe, Cristina Sampaio   +5 more
wiley   +1 more source