NDRG1-linked CMT4D disease with central nervous system involvement

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

nervous system involvement

Andoni Echaniz-Lagunaabc, Bertrand Degosa, Céline Bonnetd, Philippe

Latoure, Tarik Hamadouchef, Nicolas Lévyf, Bruno Leheupd

http://www.nmd-journal.com/article/PIIS0960896606005748/abstract?

browse_volume=17 & issue_key=TOC%40%40JOURNALSNOSUPP%40NMD%400017%

400002 & issue_preview=no & select1=no & select1=no & vol=

Abstract

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.

Keywords: Charcot-Marie-Tooth disease type 4D, NDRG1, Deafness,

Gypsies

a Département de Neurologie, Hôpital Civil de Strasbourg, 1 Place de

l'Hôpital, BP426, 67091 Strasbourg, France

b INSERM U692, Laboratoire de Signalisations Moléculaires et

Neurodégénérescence, 67085 Strasbourg, France

c Université Louis Pasteur, Faculté de Médecine, UMRS692, 67085

Strasbourg, France

d Service de Médecine Infantile 3 et de Génétique Clinique, Centre

Hospitalier Universitaire, Hôpitaux de Brabois-Hôpital d'Enfants,

54511 Vandoeuvre Cedex, France

e Unité de Neurogénétique Moléculaire, Laboratoire Central de

Biologie, Hôpital de l'Antiquaille, 1 rue de l'Antiquaille, 69321

Lyon Cedex 05, France

f INSERM U-491, Faculté de Médecine de la Timone, 13385 Marseille

Cedex 05, France