NDRG1-linked CMT4D with central nervous system involvement

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Neuromuscul Disord. 2006 Dec 1

NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central

nervous system involvement.

Echaniz-Laguna A, Degos B, Bonnet C, Latour P, Hamadouche T, Levy N,

Leheup B.

Departement de Neurologie, Hopital Civil de Strasbourg, 1 Place de

l'Hopital, BP426, 67091 Strasbourg, France; INSERM U692, Laboratoire

de Signalisations Moleculaires et Neurodegenerescence, 67085

Strasbourg, France; Universite Louis Pasteur, Faculte de Medecine,

UMRS692, 67085 Strasbourg, France.

Charcot-Marie-Tooth disease type 4D (CMT4D) is an autosomal

recessive demyelinating polyneuropathy, associated with deafness

exclusively found in Gypsies and resulting from a homozygous R148X

mutation in the N-myc downstream-regulated gene 1 (NDRG1). We report

the detailed phenotypic study of a family without Gypsy ancestry,

who presented with severe demyelinating polyneuropathy, deafness,

subcortical white matter abnormalities on brain magnetic resonance

imaging studies, and the R148X mutation in NDRG1. For the first

time, central nervous system white matter lesions are demonstrated

in CMT4D. This report extends the clinical knowledge of CMT4D and

indicates that the role of the R148X mutation in NDRG1 in the

central nervous system should be further studied.