Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2founder effect in Holguin
Neurosci Lett
; (454): 157-160, 2009. graf, tab
Article
em En
| CUMED
| ID: cum-42351
Biblioteca responsável:
CU422.1
ABSTRACT
The objective of this study was to determine the prevalence of hereditaryataxias in Cuba, with a specialfocus on the clinical and molecular features of SCA2. Clinical assessmentswere performed by neurologicalexaminations and application of the SARA scale. Molecular analyses ofgenes SCA13, SCA6, SCA17and DRPLA identified 753 patients with SCA and 7173 asymptomaticrelatives, belonging to 200 unrelatedfamilies. 86.79 percent of all SCA patients were affected with SCA2. In the Holguin province, the averagepopulation prevalence of SCA2 is 40.18×105 inhabitants, with theremarkable figure of 141.66×105 inthe Baguanos municipality. The high prevalence of the SCA2 mutation inHolguin reflects most likelya founder effect. The stabilization of the prevalence along time suggeststhe existence of premutatedchromosomes with pure CAG, acting as reservoir for further expansions. CAGrepeat length correlatedinversely with age at onset, accounting for 80 percent of the variability. Genetic anticipation was observed in the 80 percent of transmissions. Repeat instability was greater in paternaltransmissions whereas CAG expansionswithout anticipation was observed in 10.97 percent suggesting the effect of CAA interruptions in the CAGsegment, which decrease the toxicity of the abnormal ataxin-2, and/orother protective factors...(AU)
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Coleções:
06-national
/
CU
Base de dados:
CUMED
Assunto principal:
Degenerações Espinocerebelares
/
Ataxias Espinocerebelares
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Limite:
Humans
País/Região como assunto:
Cuba
Idioma:
En
Revista:
Neurosci Lett
Ano de publicação:
2009
Tipo de documento:
Article