Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

A Durr - The Lancet Neurology, 2010 - thelancet.com
Cerebellar ataxias with autosomal dominant transmission are rare, but identification of the
associated genes has provided insight into the mechanisms that could underlie other forms …

Spinocerebellar ataxia type 2: clinicogenetic aspects, mechanistic insights, and management approaches

LC Velázquez-Pérez, R Rodríguez-Labrada… - Frontiers in …, 2017 - frontiersin.org
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar ataxia that
occurs as a consequence of abnormal CAG expansions in the ATXN2 gene. Progressive …

The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics

J Hersheson, A Haworth, H Houlden - Human mutation, 2012 - Wiley Online Library
The inherited cerebellar ataxias are a diverse group of clinically and genetically
heterogeneous neurodegenerative disorders. Inheritance patterns of these disorders can be …

A preliminary characterisation of cognition and social cognition in spinocerebellar ataxia types 2, 1, and 7

N Sokolovsky, A Cook, H Hunt, P Giunti… - Behavioural …, 2010 - Wiley Online Library
Over the last decade, studies have implicated the cerebellum not only in motor functioning,
but also in cognition and social cognition. Although some aspects of cognition have been …

Clinical behaviour of spinocerebellar ataxia type 12 and intermediate length abnormal CAG repeats in PPP2R2B

AK Srivastava, A Takkar, A Garg, M Faruq - Brain, 2017 - academic.oup.com
Abstract Spinocerebellar ataxia type 12 (SCA12) is a rare neurodegenerative disorder
caused by CAG repeat expansion in the PPP2R2B gene. Previously, the causal length of …

Founder effects of spinocerebellar ataxias in the American continents and the Caribbean

R Rodríguez-Labrada, AC Martins, JJ Magaña… - The Cerebellum, 2020 - Springer
Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of autosomal dominant
disorders. The relative frequency of the different SCA subtypes varies broadly among …

Genetics of ataxias in Indian population: a collative insight from a common genetic screening tool

P Sharma, AK Sonakar, N Tyagi, V Suroliya… - Advanced …, 2022 - Wiley Online Library
Cerebellar ataxias (CAs) represent a group of autosomal dominant and recessive
neurodegenerative disorders affecting cerebellum with or without spinal cord. Overall, CAs …

DHX9/DNA-tandem repeat-dependent downregulation of ciRNA-Fmn1 in the dorsal horn is required for neuropathic pain

X Liu, T Jin, Y Tao, M Zhang, H Zheng, Q Liu… - Acta Pharmacologica …, 2023 - nature.com
Circular RNAs (ciRNAs) are emerging as new players in the regulation of gene expression.
However, how ciRNAs are involved in neuropathic pain is poorly understood. Here, we …

Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent

I Paradisi, V Ikonomu, S Arias - Journal of human genetics, 2016 - nature.com
Dominantly inherited ataxias (spinocerebellar ataxias, SCAs) are a genetically
heterogeneous group of neurologic diseases characterized by progressive cerebellar and …

Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort

N Tyagi, B Uppili, P Sharma, S Parveen, S Saifi, A Jain… - neurogenetics, 2024 - Springer
An intronic bi-allelic pentanucleotide repeat expansion mutation,(AAGGG) 400–2000, at
AAAAG repeat locus in RFC1 gene, is known as underlying genetic cause in cases with …