Abstract Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3
(SCA3), may be the most common dominantly inherited ataxia in the world. Here I will review …

Major advances have been made in the understanding of autosomal dominant cerebellar
ataxias since genetic markers came into use in the 1980s. The subsequent mapping of nine …

Background: International prevalence estimates of autosomal dominant cerebellar ataxias
(ADCA) vary from 0.3 to 2.0 per 100,000. The prevalence of ADCA in the Netherlands is …

The dominant cerebellar ataxias (ADCAs) represent a clinically and genetically
heterogeneous group of disorders linked by progressive deterioration in balance and …

Abstract Spinocerebellar ataxia 2 (SCA2) is caused by the expansion of an unstable CAG
repeat encoding a polyglutamine tract. One hundred and eighty four index patients with …

Монография посвящена современным возможностям ДНК-диагностики и основанного
на ней медико-генетического консультирования при наследственных заболеваниях …

Objective To assess the frequency of SCA1 (spinocerebellar ataxia type 1), SCA2,
SCA3/MJD (spinocerebellar ataxia type 3/Machado-Joseph disease), SCA6, SCA7, and …

To test the hypothesis that the frequencies of normal alleles (ANs) with a relatively large
number of CAG repeats (large ANs) are related to the prevalences of the dominant …

Background Direct detection of the gene mutation allows for the confirmation of the clinical
diagnosis of Machado-Joseph disease (MJD), the most frequent cause of autosomal …

Background Ten neurodegenerative disorders characterized by spinocerebellar ataxia
(SCA) are known to be caused by trinucleotide repeat (TNR) expansions. However, in some …