Resumo

SIGLER VILLANUEVA, Aldo Amado; CASAS DIAZ, Carlos; LIMA RODRIGUEZ, Ulises  e  ALVAREZ LLANES, Rolando. A preliminary report on the spinocerebellar ataxia in Ciego de Avila province. Rev Cubana Invest Bioméd [online]. 2011, vol.30, n.2, pp.245-250. ISSN 0864-0300.

It is reported about a family with eight female patients suffering from spinocerebellar ataxia in areas of Gaspar town, Baragua municipality in Ciego de Avila province with a possible autosomal dominant inheritance. The general manifestations observed were difficulty to walk and speech, increase of the sustentation base, positive simple and sensitized Romber, action tremor, bycipital hyporeflexia and nystagmus. It traces the goal of creating a multidisciplinary team in the province and the relationship with the Ataxia Clinic in Holguin province for clinical and molecular studying of these patients.

Palavras-chave : Spinocerebellar ataxia; autosomal dominant hereditary ataxias; Spinocerebellar ataxia type 2.

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