A novel MPZ mutation in Charcot-Marie-Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies

作者：Iida Madoka; Koike Haruki; Ando Tetsuo; Sugiura Makoto; Yamamoto Masahiko; Tanaka Fumiaki; Sobue Gen^*

来源：Neuromuscular Disorders, 2012, 22(2): 166-169.

DOI：10.1016/j.nmd.2011.08.005

• Charcot-Marie-Tooth disease type 1B
• Myelin protein zero
• Focally folded myelin
• Carpal tunnel syndrome

Charcot-Marie-Tooth type 1B (CMT1B) is a demyelinating neuropathy caused by mutations in the myelin protein zero (MPZ) gene. Here, we describe a patient with CMT1B with focally folded myelin, a rarely reported phenotype of CMT1B, who initially presented with multiple entrapment neuropathies. She complained of palmar dysesthesia on both sides and on both soles of her feet in her 30%26apos;s. She underwent bilateral carpal and tarsal tunnel release at age 44, which provided transient relief from the symptoms. A sural nerve biopsy performed at age 49 revealed focally folded myelin. Molecular genetic analysis revealed a novel Asn131Ser mutation in MPZ.

• 出版日期2012-2