Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F26475821%3A_____%2F13%3A%230000168" target="_blank" >RIV/26475821:_____/13:#0000168 - isvavai.cz</a>

Result on the web

<a href="http://www.ncbi.nlm.nih.gov/pubmed/22872568" target="_blank" >http://www.ncbi.nlm.nih.gov/pubmed/22872568</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s12311-012-0403-5" target="_blank" >10.1007/s12311-012-0403-5</a>

Result language

angličtina

Original language name

Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients

Original language description

Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders currently associated with 27 genes. The most frequent types are caused by expansions in coding CAG repeats. The frequency of SCA subtypes varies among populations. Weexamined the occurrence of rare SCAs, SCA8, SCA12, SCA17 and dentatorubro-pallidoluysian atrophy (DRPLA), in the Czech population from where the data were missing. We analyzed causal gene expansions in 515 familial and sporadic ataxic patients negatively tested for SCA1-3 and SCA6-7. Pathogenic SCA8 and SCA17 expansions were identified in eight and five patients, respectively. Tay-Sachs disease was later diagnosed in one patient with an SCA8 expansion and the diagnosis of multiple sclerosis (MS) was suspected in two other patients with SCA8 expansions. These findings are probably coincidental, although the participation of SCA8 expansions in the susceptibility to MS and disease progression cannot be fully excluded. None of the patients

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

<a href="/en/project/NS9718" target="_blank" >NS9718: New possibilities for application of molecular-diagnostic methods for early detection and proper therapy selection of progressing Non-Small Cell Lung Cancer based on detection and monitoring of hypermethylation of specific genes</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2013

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

The Cerebellum

ISSN

1473-4230

e-ISSN

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Volume of the periodical

12

Issue of the periodical within the volume

2

Country of publishing house

US - UNITED STATES

Number of pages

7

Pages from-to

155-161

UT code for WoS article

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EID of the result in the Scopus database

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