Медицинская библиотека · Journal of the International Neuropsychological Society : JINS · 2020

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

Kasselimis Dimitrios, Karadima Georgia, Angelopoulou Georgia, Breza Marianthi, Tsolakopoulos Dimitrios, Potagas Constantin, Panas Marios, Koutsis Georgios

СтатьяПоддержка исследования: вне правительства СШАПеревод в очереди

Аннотация

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.

Для цитирования: Kasselimis Dimitrios, Karadima Georgia, Angelopoulou Georgia, Breza Marianthi, Tsolakopoulos Dimitrios, Potagas Constantin, Panas Marios, Koutsis Georgios. Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease.. Journal of the International Neuropsychological Society : JINS. 2020. DOI: 10.1017/s1355617719001188.

Предметные рубрики MeSH

Adult Charcot-Marie-Tooth Disease Cognitive Dysfunction Connexins Dyslexia Executive Function Female Humans Male Middle Aged Young Adult Gap Junction beta-1 Protein

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