TY - JOUR
TI - Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease
AU - Kasselimis, D.
AU - Karadima, G.
AU - Angelopoulou, G.
AU - Breza, M.
AU - Tsolakopoulos, D.
AU - Potagas, C.
AU - Panas, M.
AU - Koutsis, G.
JO - Journal of the International Neuropsychological Society
PY - 2020
VL - 26
TODO - 3
SP - 294-302
PB - Cambridge University Press
SN - 1355-6177, 1469-7661
TODO - 10.1017/S1355617719001188
TODO - 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
TODO - 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.
ER -