@article{2982832,
    title = "Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease",
    author = "Kasselimis, D. and Karadima, G. and Angelopoulou, G. and Breza, M. and Tsolakopoulos, D. and Potagas, C. and Panas, M. and Koutsis, G.",
    journal = "Journal of the International Neuropsychological Society",
    year = "2020",
    volume = "26",
    number = "3",
    pages = "294-302",
    publisher = "Cambridge University Press",
    issn = "1355-6177, 1469-7661",
    doi = "10.1017/S1355617719001188",
    keywords = "connexin 32;  gap junction protein, adult;  cognitive defect;  complication;  dyslexia;  executive function;  female;  hereditary motor sensory neuropathy;  human;  male;  middle aged;  pathophysiology;  physiology;  young adult, Adult;  Charcot-Marie-Tooth Disease;  Cognitive Dysfunction;  Connexins;  Dyslexia;  Executive Function;  Female;  Humans;  Male;  Middle Aged;  Young Adult",
    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. © Copyright 2019 INS. Published by Cambridge University Press."
}