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Spinocerebellar ataxia type 1 in Russia

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Abstract

Spinocerebellar ataxia type 1 (SCA1) is one form of autosomal dominant cerebellar ataxia (ADCA) caused by trinucleotide (CAG) repeat expansion within a mutant gene. We investigated 25 patients from 15 Russian ADCA families for SCA1 mutation and found an expanded CAG repeat in 5 families. Mutant chromosomes contained 41–51 CAG repeats (mean 46.1, SD 3.1), and normal chromosomes displayed 21–27 repeat units (mean 24.7, SD 1.3). Progressive cerebellar ataxia in our series of SCA1 patients was very commonly associated with dysarthria (in all cases) and pyramidal signs (in 10 of 11 cases). In three patients from one family we found optic atrophy, which has never been described before in genetically proven cases of SCA1. We observed no specific clinical features distinguishing SCA1 from non-SCA1 patients. In contrast to the high frequency of SCA1 in our series, we found no patients with Machado-Joseph disease, another form of ADCA caused by expanded CAG repeat.

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Authors and Affiliations

  1. Department of Neurogenetics, Institute of Neurology, Russian Academy of Medical Sciences, Volokolamskoye Shosse 80, 123367, Moscow, Russia

    Sergei N. Illarioshkin, Igor V. Ovchinnikov, Elena D. Markova, Natalya I. Miklina, Sergei A. Klyushnikov, Nikolai V. Vereshchagin & Irina A. Ivanova-Smolenskaya

  2. Department of Molecular Basis of Human Genetics, Institute of Molecular Genetics, Russian Academy of Sciences, Kurchatov Square 46, 123182, Moscow, Russia

    Pyotr A. Slominsky, Marya Shadrina & Svetlana A. Limborskaya

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  1. Sergei N. Illarioshkin
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  2. Pyotr A. Slominsky
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  3. Igor V. Ovchinnikov
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  4. Elena D. Markova
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  6. Sergei A. Klyushnikov
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Illarioshkin, S.N., Slominsky, P.A., Ovchinnikov, I.V. et al. Spinocerebellar ataxia type 1 in Russia. J Neurol 243, 506–510 (1996). https://doi.org/10.1007/BF00886871

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  • DOI: https://doi.org/10.1007/BF00886871

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