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Type: Artigo
Title: Cognitive and psychiatric evaluation in SYNE1 ataxia
Author: Drumond Gama, Maria Thereza
Braga-Neto, Pedro
Dutra, Livia Almeida
Alessi, Helena
Maria, Lilia Alves
Gadelha, Ary Araripe
Ortiz, Bruno Bertolucci
Kunii, Ilda
Correia-Silva, Silvia Regina
Dias da Silva, Magnus R.
Dion, Patrick A.
Rouleau, Guy A.
Franca, Marcondes Cavalcante Jr.
Barsottini, Orlando G. P.
Pedroso, Jose Luiz
Abstract: SYNE1 gene mutations were identified as a cause of late-onset pure cerebellar syndrome. Non-cerebellar symptoms, including cognitive impairment, were already described in this condition. The aim of this study was to perform a detailed cognitive and psychiatric description of patients with SYNE1 gene mutations. We performed neuropsychological and psychiatric evaluations of six patients with SYNE1 ataxia and compared their performance with 18 normal controls paired for age and education level. SYNE1 ataxia patients present cognitive dysfunction, characterized by impairment in attention and processing speed domains. Otherwise, the psychiatric assessment reported low levels of overall behavioral symptoms with only some minor anxiety-related complaints. Although this is a small sample of patients, these results suggest that SYNE1 ataxia patients may represent a model to investigate effects of cerebellar degeneration in higher hierarchical cognitive functions. For further studies, abstract thinking impairment in schizophrenia may be related to dysfunction in cerebellum pathways.
Subject: Comprometimento cognitivo leve
Country: Estados Unidos
Editor: Springer Nature
Rights: Fechado
Identifier DOI: 10.1007/s12311-019-01033-5
Date Issue: 2019
Appears in Collections:FCM - Artigos e Outros Documentos

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