NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement.
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.
Echaniz-Laguna
Andoni
A
Département de Neurologie, Hôpital Civil de Strasbourg, 1 Place de l'Hôpital, BP426, 67091 Strasbourg, France. Echaniz-Laguna@medecine.u-strasbg.fr
Degos
Bertrand
B
Bonnet
Céline
C
Latour
Philippe
P
Hamadouche
Tarik
T
Lévy
Nicolas
N
Leheup
Bruno
B
D000293:Adolescent; D001921:Brain / Q000473:pathology; D018797:Cell Cycle Proteins / Q000235:genetics*; D002490:Central Nervous System / Q000473:pathology*; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology*; D004247:DNA / Q000235:genetics; D003638:Deafness / Q000150:complications / Q000235:genetics / Q000473:pathology; D003711:Demyelinating Diseases / Q000209:etiology / Q000235:genetics / Q000473:pathology; D004594:Electrophysiology; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D018908:Muscle Weakness / Q000209:etiology / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D011115:Polyneuropathies / Q000209:etiology / Q000235:genetics / Q000473:pathology; D020133:Reverse Transcriptase Polymerase Chain Reaction; D006178:Romani People; D000099259:N-myc Downstream-Regulated Gene 1 Protein
D018797:Cell Cycle Proteins; D004247:DNA; D047908:Intracellular Signaling Peptides and Proteins; D000099259:N-myc Downstream-Regulated Gene 1 Protein