CMT X: Central motor & sensory pathway involvement in family

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Acta Neurol Belg. 2008 Jun;108(2):44-7.

Central motor and sensory pathway involvement in an X-linked Charcot-

Marie-Tooth family.

Zambelis T, Panas M, Kokotis P, Karadima G, Kararizou E, Karandreas N.

EMG Laboratory, Department of Neurology, University of Athens,

Aeghinition Hospital, Greece.

The aim of the present study was to investigate the subclinical

involvement of the central nervous system (CNS) in an X-linked

Charcot-Marie-Toth (CMTX) family.

MATERIAL AND METHODS: Seven subjects, all members of one family with

a C.462T > G connexin 32 (Cx32) mutation were investigated by Blink

reflex, Somatosensory evoked potentials (SEP) and Transcranial

magnetic stimulation (TMS). There were five clinically symptomatic

for CMT neuropathy (four male and one female) and two asymptomatic

(female) subjects.

RESULTS: Subclinical CNS involvement was observed in all, symptomatic

and asymptomatic subjects.

CONCLUSION: This is the largest CMTX neuropathy family investigated

for CNS involvement. Electrophysiological involvement of the CNS in

every examined member of this family was observed, raising the

question of a more systematic involvement of the CNS in CMTX disease.