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Am J Neurodegener Dis 2013;2(2):57-69

Review Article
Association between spinocerebellar ataxias caused by glutamine
expansion and psychiatric and neuropsychological signals - a litera-ture
review

Uanda Cristina Almeida-Silva, Jaime Eduardo Cecílio Hallak, Wilson Marques Júnior, Flávia de Lima Osório

Department of Neurosciences and Behavior, Medical School of Ribeirão Preto, University of São Paulo, Brazil;
Technology Institute for Translational Medicine (INCT-TM, CNPq), Brazil

Received May 2, 2013; Accepted May 31, 2013; Epub June 21, 2013; Published July 1, 2013

Abstract: The autosomal dominant cerebellar ataxias, also known as spinocerebellar ataxias (SCA), are characterized
by cerebellar degenera-tion and by their afferent and efferent connections. Currently, at least 31 types of SCA are
described, among which a subset, comprising types 1, 2, 3, 6, 7, 17 of the disease, is distinguished due to sharing the
same form of mutation involving the repetition of the series of CAG triplets, known as polyglutamine diseases
(SCApolyQ). Through a systematic literature review using the Pubmed, PsycoINFO, LILACS and SciELO databases
and the keywords Spinocerebellar Ataxia in association with the words neuropsychiatric, psychological, cognitive
impairment(s) and psychiatric comorbidities this study aimed to identify the possible associations between SCApolyQ
and neuropsychological and psychiatric symptoms/disorders. A greater presence of symptoms of depression and
anxiety was evidenced, as well as the existence of cognitive impairments in the patients with SCApolyQ when
compared with the general population, with important differences in the profile of these impairments among the types
of SCA. It was observed that the findings, in general, indicated greater impairment in the executive functions, verbal
fluency and verbal memory and that there was a higher concentration of studies for SCA2 and SCA3. However, there is
a need for a greater number of studies using a more homogeneous methodology, which perform direct comparisons
between the types of ataxias and that explore some of the still little evaluated neuropsychological functions and the
different psychiatric disorders in their amplitude. (AJND1305001).

Keywords: Spinocerebellar ataxia, cognitive aspects, psychiatric aspects, cognitive function

Address correspondence to: Uanda Cristina Almeida Silva, Avenida dos Bandeirantes, 3900. CEP 14048-900,
Ribeirão Preto, São Paulo, Bra-zil. Tel: +55 16 3602.2837; E-mail: uanda.silva@gmail.com