Τίτλος:
Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.
Συγγραφείς:
Kasselimis, D.
Karadima, G.
Angelopoulou, G.
Breza, M.
Tsolakopoulos, D.
Potagas, C.
Panas, M.
Koutsis, G.
Περιοδικό:
Journal of the International Neuropsychological Society
Εκδότης:
Cambridge University Press
Λέξεις-κλειδιά:
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
DOI:
10.1017/S1355617719001188
