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Itajaí, Santa Catarina – Azorean ancestry and spinocerebellar ataxia type 3

Itajaí, Santa Catarina – descendência açoriana e ataxia espinocerebelar tipo 3

ABSTRACT

The authors present a historical review of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the most common form of spinocerebellar ataxia in Brazil, and consider the high frequency of cases in families from Itajaí, a city on the coast of the state of Santa Catarina with a large population of Portuguese/Azorean descent.

spinocerebellar ataxias; Machado-Joseph disease

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