2020
DOI: 10.1017/s1355617719001188
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Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease

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 co… Show more

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Cited by 9 publications
(10 citation statements)
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“…B6 .Morc2a S87L/+ mice showed cerebral cortex damage and cognitive disorder. In addition, cognitive impairment was identified in human CMT patients of various subtypes ( Kasselimis et al, 2020 ; Pontillo et al, 2020 ; Werheid et al, 2016 ). Moreover, CMT2Z patients can develop cognitive impairment ( Ando et al, 2017 ).…”
Section: Discussionmentioning
confidence: 99%
“…B6 .Morc2a S87L/+ mice showed cerebral cortex damage and cognitive disorder. In addition, cognitive impairment was identified in human CMT patients of various subtypes ( Kasselimis et al, 2020 ; Pontillo et al, 2020 ; Werheid et al, 2016 ). Moreover, CMT2Z patients can develop cognitive impairment ( Ando et al, 2017 ).…”
Section: Discussionmentioning
confidence: 99%
“…There is mounting evidence that some forms of CMTX present with cognitive symptoms and alterations in central white matter (Hardy et al, 2019;Hu et al, 2019;Kasselimis et al, 2020;Wen et al, 2018). Cx32 mediated signalling may therefore also be important for myelinated axons in the central nervous system.…”
Section: Atp Release In Myelinated Nervesmentioning
confidence: 99%
“…Little has been documented on the cognitive implications of CMT. Selective cognitive deficits have been noted in some individuals with CMT (Kasselimis et al, 2020). These deficits were described as challenges with executive function and prominent pseudoword reading (Kasselimis et al, 2020).…”
Section: Cognitive/academicmentioning
confidence: 99%
“…Selective cognitive deficits have been noted in some individuals with CMT (Kasselimis et al, 2020). These deficits were described as challenges with executive function and prominent pseudoword reading (Kasselimis et al, 2020). Additional research is warranted to understand the cognitive deficits that may present with CMT and how best to support these students in the classroom.…”
Section: Cognitive/academicmentioning
confidence: 99%