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1 results

  • Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease

  • Dimitrios Kasselimis, Georgia Karadima, Georgia Angelopoulou, Marianthi Breza, Dimitrios Tsolakopoulos, Constantin Potagas, Marios Panas, Georgios Koutsis
  • Journal:
    Journal of the International Neuropsychological Society / Volume 26 / Issue 3 / March 2020
    Published online by Cambridge University Press:
    17 January 2020, pp. 294-302
    • Article
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  • 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.