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

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

doi:10.1017/s1355617719001188

Abstract

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. We assessed 24 CMTX patients (13 males; 9GJB1 mutations) with a comprehensive neuropsychological battery, including tests of memory, language, and executive functions. 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. The present data provide evidence for cognitive deficits in CMTX. Emerging neuropsychological patterns are also discussed.

Highlights

X-linked Charcot-Marie-Tooth disease (CMTX), a hereditary sensorimotor neuropathy, is caused by mutations in GJB1 coding for connexin-32 (Cx-32)
Cx-32 is a gap-junction protein expressed in peripheral Schwann cells, and found in oligodendrocytes within the central nervous system (CNS) (Scherer & Kleopa, 2012)
We presently aimed to investigate the cognitive function of patients with CMTX

Summary

Introduction

X-linked Charcot-Marie-Tooth disease (CMTX), a hereditary sensorimotor neuropathy, is caused by mutations in GJB1 coding for connexin-32 (Cx-32). Several reports have identified CMTX patients with CNS involvement that can range from a transient encephalopathy to asymptomatic white matter abnormalities on brain MRI. A recent systematic study of diffusion tensor imaging (DTI) in CMT revealed characteristic brain DTI abnormalities in patients with CMTX most prominent posteriorly and in the corpus callosum (Lee et al, 2017). A plethora of studies provides evidence in favor of the involvement of the corpus callosum in several cognitive domains, such as visuospatial attention, higher-level visual processing, and language (for a review, see Kasselimis & Nidos, 2015)

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