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C. Oliver Hanemann, MD; Carsten Bergmann, MD; Jan Senderek, MD; Klaus Zerres, MD; Ann-Dorte Sperfeld, MD

Arch Neurol. 2003;60:605-609.

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).

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