MPZ mutation His39Pro: HMSN with variable onset, hearing loss, RLS and MS

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J Neurol Neurosurg Psychiatry. 2006 Aug;77(8):963-6.

Myelin protein zero mutation His39Pro: hereditary motor and sensory

neuropathy with variable onset, hearing loss, restless legs and

multiple sclerosis.

Kilfoyle DH, Dyck PJ, Wu Y, Litchy WJ, Klein DM, Dyck PJ, Kumar N,

Cunningham JM, Klein CJ.

Peripheral Nerve Group, Department of Neurology, Mayo Clinic,

Genotyping Shared Resource Center of Advanced Genomic Technology

Center, Rochester, Minnesota 55905, USA.

BACKGROUND: Mutations of myelin protein zero (MPZ) may cause

inherited neuropathy with variable expression.

OBJECTIVE: To report phenotypic variability in a large American

kindred with MPZ mutation His39Pro.

PATIENTS: Genetic testing was performed on 77 family members and 200

controls. Clinical and electrophysiological field study assessments

were available for review in 47 family members.

RESULTS: His39Pro was found in all 10 individuals prospectively

identified with neuropathy. 200 normal controls were without

mutation. Symptoms of neuropathy began in adulthood and were slowly

progressive except for one acute-onset painful sensory neuropathy.

Associated features included premature hearing loss (n = 7),

nocturnal restless leg symptoms (n = 8) and multiple sclerosis in

one.

CONCLUSIONS: MPZ mutation His39Pro may be associated with acute-onset

neuropathy, early-onset hearing loss and restless legs. The

relationship with multiple sclerosis in the proband remains uncertain.