Spinocerebellar ataxia type 6 - Open Access .click

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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 +5 more
wiley +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 +14 more
wiley +1 more source

Visual Suppression is Impaired in Spinocerebellar Ataxia Type 6 but Preserved in Benign Paroxysmal Positional Vertigo

Diagnostics, 2012
Positional vertigo is a common neurologic emergency and mostly the etiology is peripheral. However, central diseases may mimic peripheral positional vertigo at their initial presentation.
Masahiko Kishi +8 more
doaj +1 more source

Novel Mutation in CACNA1A Associated with Activity-Induced Dystonia, Cervical Dystonia, and Mild Ataxia

Case Reports in Neurological Medicine, 2021
CACNA1A encodes the pore-forming α1 subunit of the neuronal voltage-gated Cav2.1 (P/Q-type) channels, which are predominantly localized at the presynaptic terminals of the brain and cerebellar neurons and play an important role in controlling ...
Benjamin Stampfl, Dominic Fee
doaj +1 more source

ON/OFF Phenomenon in 4‐Aminopyridine Therapy in Spinocerebellar Ataxia 27B: Therapeutic and Diagnostic Insights

Movement Disorders Clinical Practice, EarlyView.
Chiara Caneda +6 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 +5 more
wiley +1 more source

Frequency of ZFHX3‐Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort

Movement Disorders, Volume 41, Issue 9, Page 2476-2489, September 2026.
Abstract Background Spinocerebellar ataxia 4 (SCA4) is a late‐onset dominant ataxia with neuropathy caused by exonic GGC repeat expansion in the ZFHX3 gene thought to originate from a Swedish founder event. The GC‐rich expansion is highly thermodynamically stable, posing challenges for standard clinical genetic testing methods.
Annie Chen +320 more
wiley +1 more source

Polyglutamine repeats of spinocerebellar ataxia 6 impair the cell-death-preventing effect of CaV2.1 Ca2+ channel—loss-of-function cellular model of SCA6

Neurobiology of Disease, 2004
Spinocerebellar ataxia (SCA) 6 is caused by small expansion of a polyglutamine sequence, encoded by CAG trinucleotide repeats, at the C-terminal end of the human CaV2.1 (P/Q-type) Ca2+ channel α12.1 subunit and it manifests itself as slowly progressive ...
Zenjiro Matsuyama +7 more
doaj +1 more source

Clinical Utility of Trio Exome Sequencing in Rwandan Children With Autism Spectrum Disorder

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
Addressing the Gap: First trio‐based WES study of ASD in Rwanda, addressing African underrepresentation in global genomics. Diagnostic Yield: 12.9% yield of clinically relevant variants, consistent with global benchmarks (10%–30%). Genetic Findings: Confirmed de novo likely pathogenic variants identified in high‐impact ASD genes, including SYNGAP1 and ...
Olivier Hakizimana +16 more
wiley +1 more source

Technologies for engineering repetitive DNA

Quantitative Biology, Volume 14, Issue 3, September 2026.
Abstract Repetitive DNA, a fundamental architectural element of genomes, is widespread across organisms and comprises about 54% of the human genome. With advances in long‐read sequencing and bioinformatics approaches, highly repetitive sequences can now be characterized in depth.
Shuting Ma, Yali Cui, Yi Wu
wiley +1 more source

medicine
polyglutamine
spinocerebellar ataxia

cerebellar ataxia
cacna1a
spinocerebellar ataxias

cerebellum
sca6
machado-joseph disease