Objectives To describe and correlate the genotype and phenotype of patients diagnosed
with SCAs in southern of Brazil. Patients and methods Data were collected from the records …

Autosomal dominant spinocerebellar ataxias (SCAs) are a clinical and genetically
heterogeneous group of debilitating neurodegenerative diseases that are related to at least …

Spinocerebellar ataxias (SCAs) have a worldwide average prevalence of 2.7 cases per
100,000 individuals, with significant geographic variability. This study aimed to develop …

Background Spinocerebellar ataxias (SCA) are a group of rare hereditary
neurodegenerative disorders. Rare cases of two SCA mutations in the same individual have …

Abstract Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder in
which patients have a slowly progressive cerebellar ataxia, with dysarthria, dysphagia, and …

This study describes the frequency of spinocerebellar ataxias and of CAG repeats range in
different geographical regions of Brazil, and explores the hypothetical role of normal CAG …

Objective The objective of this study is to describe the first series of spinocerebellar ataxia
(SCA) in Rio de Janeiro, whose population has a high proportion of mixed Portuguese and …

Dominantly inherited ataxias (spinocerebellar ataxias, SCAs) are a genetically
heterogeneous group of neurologic diseases characterized by progressive cerebellar and …

Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-
Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of …

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant ataxia caused by an
ATTCT repeat expansion in an intron of the SCA10 gene. SCA10 has been reported only in …