Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.
BACKGROUND
X-linked hereditary demyelinating neuropathies (Charcot-Marie-Tooth Disease [CMTX]) caused by mutations in the connexin 32 (Cx32) gene account for approximately 10% to 20% of all hereditary demyelinating neuropathies. Mild subclinical central nervous system (CNS) involvement has been previously described, and CMTX patients with transient white matter lesions allied to CNS symptoms have very recently been described. This is of potential interest, as Cx32 is widely expressed in both peripheral nerve and the brain.


METHODS
We describe a family with hereditary demyelinating neuropathy and transient CNS symptoms. For this study, family members underwent genotyping and detailed clinical, electrophysiological, and magnetic resonance imaging examination.


RESULTS
We present a CMTX family with a novel mutation in the Cx32 gene. Affected family members show, in addition to the classic polyneuropathy, transient and reversible white matter lesions on magnetic resonance imaging scans, correlating similarly transient CNS symptoms.


CONCLUSIONS
Patients with CMTX can present with transient CNS symptoms and marked white matter lesions on magnetic resonance imaging scans.
Hanemann
C Oliver
CO
Department of Neurology, University of Ulm, Ulm, Germany. oliver.hanemann@medizin.uni-ulm.de
Bergmann
Carsten
C
Senderek
Jan
J
Zerres
Klaus
K
Sperfeld
Ann-Dorte
AD
D000328:Adult; D001921:Brain / Q000473:pathology*; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology; D041321:Chromosomes, Human, X / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation; D010375:Pedigree; D012008:Recurrence; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D000097002:Gap Junction beta-1 Protein