Clinical-genealogical and molecular-genetic features of spinocerebellar ataxia type 1 in the Khabarovsk Region-Reference-Cited by-同舟云学术

Clinical-genealogical and molecular-genetic features of spinocerebellar ataxia type 1 in the Khabarovsk Region

Published:2020-10-01 Issue:10 Volume: Page:33-39
ISSN:2074-6822
Container-title:Vestnik nevrologii, psihiatrii i nejrohirurgii (Bulletin of Neurology, Psychiatry and Neurosurgery)
language:ru
Short-container-title:

Author:

I Dmitriy Vitalyevich¹,Proskokova Tatyana Nikolaevna¹,Sikora Natalia Vladimirovna²

Affiliation:

1. Far Eastern State Medical University

2. Perinatal center

Abstract

The clinical picture of SCA1 in the Khabarovsk Region is characterized, along with cerebellar symptoms, by more frequent manifestations of pyramidal, extrapyramidal, cognitive, autonomic and psychiatric disorders. The age of patients was 34,1 ± 4,2 years, and the age of disease onset was 31,4 ± 2,3 years. The number of CAG-repeats in the ATXN1 gene varied from 43 to 63. The non-mutated ATXN1 gene in the Khabarovsk Region population contained 29,0 ± 0,4 CAG-repeats. The prevalence of SCA1 in the Khabarovsk Region was 1:100 000 of the population which corresponds to the world prevalence of 1–3:100 000 of the population.

Publisher

PANORAMA Publishing House

Reference31 articles.

1. Orr H. T., Chung M., Banfi S. et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 1993; 4: 221–26.

2. CurrierR.D., GloverG., JacksonJ. F. et al. Spinocerebellar ataxia: study of a large kindred. Neurology. 1972; 22: 1040–43.

3. Yakura H., Wakisaka A., Fujimoto S. et al. Hereditary ataxia and HL-A genotypes. NEngl J Med. 1974; 291: 154–55.

4. HainesJ. L., Schut L.J., Weitkamp L. R. et al. Spinocerebellar ataxia in a large kindred: age at onset, reproduction, and genetic linkage studies. Neurology. 1984; 34: 1542–48.

5. Jodice C., Frontali M., Persichetti F. et al. The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci. Hum Mol Genet. 1993; 2: 1383–87.