Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease.
J Int Neuropsychol Soc
; 26(3): 294-302, 2020 03.
Article
em En
| MEDLINE
| ID: mdl-31948496
ABSTRACT
OBJECTIVE:
X-linked Charcot-Marie-Tooth disease (CMTX) is an hereditary neuropathy caused by mutations in GJB1 coding for connexin-32, found in Schwann cells, but also expressed in oligodendrocytes. Reports have identified CNS involvement in CMTX, but no systematic study of cognitive function has been published.METHODS:
We assessed 24 CMTX patients (13 males; 9GJB1 mutations) with a comprehensive neuropsychological battery, including tests of memory, language, and executive functions.RESULTS:
No differences in cognitive performance were observed between males and females. A case-by-case investigation revealed selective deficits in individual patients. One subgroup (29%) demonstrated executive abnormalities; and a non-overlapping subgroup (29%), prominent reading (decoding) abnormalities.CONCLUSIONS:
The present data provide evidence for cognitive deficits in CMTX. Emerging neuropsychological patterns are also discussed.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Charcot-Marie-Tooth
/
Dislexia
/
Função Executiva
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Disfunção Cognitiva
Limite:
Adult
/
Female
/
Humans
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Male
/
Middle aged
Idioma:
En
Revista:
J Int Neuropsychol Soc
Assunto da revista:
NEUROLOGIA
/
PSICOLOGIA
Ano de publicação:
2020
Tipo de documento:
Article