Type X Research update - from Germany

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Transient, Recurrent, White Matter Lesions in X-linked

Charcot-Marie-Tooth Disease With Novel Connexin 32 Mutation from the

Archives of Neurology April 2003;60:605-609.

C. Oliver Hanemann, MD; Carsten Bergmann, MD; Jan Senderek, MD; Klaus

Zerres, MD; Ann-Dorte Sperfeld, MD

Background X-linked hereditary demyelianting 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.

Patients 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.

Conclusion Patients with CMTX can present with transient CNS symptoms

and marked

white matter lesions on magnetic resonance imaging scans.

From the Department of Neurology, University of Ulm, Ulm, Germany (Drs

Hanemann and

Sperfeld), and the Department of Human Genetics, Universitätsklinikum,

Rheinisch-Westfälische Technische Hochschule, Aachen, Germany (Drs

Bergmann,

Senderek, and Zerres).