Spinocerebellar ataxias - Open Access .click

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

Movement Disorders, EarlyView.
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

Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene

, 2011
Includes bibliographical references (leaves 106-116).Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease caused by the expansion of a CAG repeat within the ataxin-7 gene. The South African SCA7 population has been shown to have
Berkowitz, Danielle Claire
core

Research progress of spinocerebellar ataxia type 1

Chinese Journal of Contemporary Neurology and Neurosurgery, 2014
Spinocerebellar ataxia type 1 (SCA1) is a kind of autosomal dominant genetic neurodegenerative disorder. To date, the pathogenesis of SCA1 remains unclear.
Lin-wei ZHANG, Wei-hong GU
doaj

Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias.

PLoS ONE, 2017
BackgroundThe inositol 1,4,5-triphosphate (IP3) receptor type 1 gene (ITPR1) encodes the IP3 receptor type 1 (IP3R1), which modulates intracellular calcium homeostasis and signaling. Mutations in ITPR1 have been implicated in inherited cerebellar ataxias.
Cheng-Tsung Hsiao +5 more
doaj +1 more source

Spinocerebellar Ataxia

Pediatric Neurology Briefs, 1988
The onset below 15 years of age of autosomal dominant spinocerebellar ataxia (SCA) in 6 of 41 affected patients is reported from the Dept of Pediatrics, Baylor College of Medicine, Houston, TX.
openaire +4 more sources

The preclinical stage of spinocerebellar ataxias

Neurology, 2015
The autosomal dominant spinocerebellar ataxias (SCAs) are a heterogeneous group of degenerative diseases of the cerebellum and connected regions. The discovery of various SCA genes and the subsequent possibility of predictive testing currently allow a genetic diagnosis to be established years or even decades before the actual appearance of ataxia ...
Maas, R.P. +4 more
openaire +5 more sources

The DNA/RNA autophagy protein SIDT2 as a novel neuropathological hallmark in Huntington disease

Brain Pathology, EarlyView.
SIDT2‐immunoreactive inclusions are observed in the striatum, cerebral cortex, and hypothalamus in HD cases with different Vonsattel grades, and the frequency of SIDT2‐immunoreactive inclusions is associated with longer CAG repeats in the huntingtin gene.
Sanaz Gabery +17 more
wiley +1 more source

The Expanded Polyglutamine Tract Spinocerebellar Ataxias

, 2017
The spinocerebellar ataxias are dominantly-inherited neurodegenerative disorders whose major clinical feature is incoordination. Although 32 have been described to date, those characterized by (CAG)n repeat expansions resulting in elongated polyglutamine
Elsdon Storey
core +1 more source

Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1

Arquivos de Neuro-Psiquiatria
Spinocerebellar ataxias (SCA) are a clinically and genetically heterogeneous group of monogenic diseases that share ataxia and autosomal dominant inheritance as the core features.
Carlos Roberto Martins Junior +7 more
doaj +1 more source

GAA‐FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult‐Onset Ataxia

Clinical Genetics, EarlyView.
GAA‐FGF14 ataxia is a frequent cause of both familial and sporadic cerebellar ataxia. If symptoms are consistent, targeted testing of the FGF14 locus should be considered as a first‐line approach, as the diagnostic yield is up to 50%. ABSTRACT GAA‐FGF14 ataxia (spinocerebellar ataxia 27B, SCA27B), identified in 2023, is a major cause of adult‐onset ...
Eva‐Maria Kraus +7 more
wiley +1 more source

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