Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation.

Abstract excerpt

Hereditary neuropathy with liability to pressure palsies (HNPP) is a disorder mainly caused by a 1.5-Mb deletion at 17p11.2-12 (and in some rare cases by point mutations) and clinically associated with recurrent painless palsies. Here, we performed electrophysiological (motor, sensory and terminal latency index), MRI and genetic studies in a family referred for ulnar neuropathy with pain. Surprisingly, we found...

Topics

• Adult
• Arthrogryposis
• Electrodiagnosis
• Frameshift Mutation
• Hereditary Sensory and Motor Neuropathy
• Humans
• Magnetic Resonance Imaging
• Male
• Mutation
• Myelin Proteins