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 …

The number of neurodegenerative diseases resulting from repeat expansion has increased
extraordinarily in recent years. In several of these pathologies, the repeat can be transcribed …

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 …

There are over 40 autosomal dominant spinocerebellar ataxias (SCAs) now identified. In this
chapter we delineate the phenotypes of SCAs 1-44 and dentatorubral-pallidoluysian atrophy …

We have identified a large expansion of an ATTCT repeat within intron 9 of ATXN10 on
chromosome 22q13. 31 as the genetic mutation of spinocerebellar ataxia type 10 (SCA10) …

Large, non-coding pentanucleotide repeat expansions of ATTCT in intron 9 of the ATXN10
gene typically cause progressive spinocerebellar ataxia with or without seizures and present …

The hereditary ataxias are clinically and genetically very heterogeneous. They are mainly
characterized by gait and limb ataxia, dysarthria, a variable degree of oculomotor …

Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocerebellar ataxia
(SCA) characterized by ataxia with other neurological signs, including oculomotor …

Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative
diseases characterized by progressive cerebellar ataxia in association with some or all of …

Background and purpose: The relative frequency of the different autosomal dominant
cerebellar ataxia (ADCA) varies widely amongst different geographic locations. Here we …