1. Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease.
- Author
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Kasselimis D, Karadima G, Angelopoulou G, Breza M, Tsolakopoulos D, Potagas C, Panas M, and Koutsis G
- Subjects
- Adult, Cognitive Dysfunction physiopathology, Connexins, Dyslexia physiopathology, Female, Humans, Male, Middle Aged, Young Adult, Gap Junction beta-1 Protein, Charcot-Marie-Tooth Disease complications, Cognitive Dysfunction etiology, Dyslexia etiology, Executive Function physiology
- 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.
- Published
- 2020
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