Cognitive dysfunction in spinocerebellar ataxias

Disfunção cognitiva em ataxias espinocerebelares

Helio Afonso Ghizoni Teive Walter Oleschko Arruda About the authors

Abstract

Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of complex neurodegenerative diseases, characterized by the presence of progressive cerebellar ataxia, associated or otherwise with ophthalmoplegia, pyramidal signs, extrapyramidal features, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia.

Objective:

To verify the presence of cognitive dysfunction among the main types of SCA described in the literature.

Methods:

the review was conducted using the search system of the PUBMED and OMIM databases.

Results:

Cognitive dysfunction occurs in a considerable proportion of SCA, particularly in SCA 3, which is the most frequent form of SCA worldwide. Dementia has been described in several other types of SCA such as SCA 2, SCA 17 and DRPLA. Mental retardation is a specific clinical feature of SCA 13.

Conclusions:

The role of the cerebellum in cognitive functions has been observed in different types of SCAs which can manifest varying degrees of cognitive dysfunction, dementia and mental retardation.

Key words:
spinocerebellar ataxia; cognitive dysfunction; dementia.

Resumo

Fundamento:

As ataxias espinocerebelares (AECs) compreendem um grupo heterogêneo de enfermidades neurodegenerativas, que se caracterizam pela presença de ataxia cerebelar progressiva, associada de forma avariada com oftalmoplegia, sinais piramidais, extrapiramidais, retinopatia pigmentar, neuropatia periférica, disfunção cognitiva e demência.

Objetivo:

Revisar a presença de disfunção cognitiva entre os principais tipos de AECs publicados na literatura mundial.

Métodos:

A revisão foi realizada através da pesquisa pelo sistema do PUBMED e do OMIM.

Resultados:

Disfunção cognitiva ocorre em uma parcela considerável de AECs, particularmente na AEC 3, que é a forma de AEC mais encontrada em todo o mundo. Demência também tem sido descrita em alguns tipos de AECs como a AEC 2, a AEC 17 e a DRPLA. Retardo mental é característica clínica peculiar da AEC tipo 13.

Conclusões:

O papel do cerebelo nas funções cognitivas vem sendo enfatizado cada vez mais e diferentes tipos de AECs, apresentam graus variados de disfunção cognitiva, demência e também retardo mental.

Palavras-chave:
ataxia espinocerebelar; disfunção cognitiva; demência.

Texto completo disponível apenas em PDF.

Full text available only in PDF format.

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Publication Dates

  • Publication in this collection
    Jul-Sep 2009

History

  • Received
    10 Apr 2009
  • Accepted
    26 June 2009
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