Phe 84 deletion of the PMP22 gene associated with hereditary motor and sensory neuropathy HMSN III with multiple cranial neuropathy: clinical, neurophysiological and magnetic resonance imaging findings. uri icon

Overview

abstract

  • Hereditary motor and sensory neuropathy (HMSN) is a heterogeneous group of peripheral neuropathies which are diagnosed on the basis of clinical, electrophysiological and neuropathological findings. Among the hypertrophic demyelinating neuropathies, HMSN III is the most severe. It is often associated with de novo mutations in the genes encoding for peripheral myelin proteins. While peripheral nerve hypertrophy is an expected finding in HMSN III, cranial nerve hypertrophy is exceptional. Here we describe a mutation in the PMP22 gene in a 19-year-old man with infantile onset of sensory motor polyneuropathy without family history and multiple cranial nerve hypertrophy shown by cranial magnetic resonance imaging.

publication date

  • March 1, 2001

Research

keywords

  • Cranial Nerve Diseases
  • Hereditary Sensory and Motor Neuropathy
  • Myelin Proteins
  • Phenylalanine
  • Sequence Deletion

Identity

Scopus Document Identifier

  • 0035085503

Digital Object Identifier (DOI)

  • 10.1007/s004150170225

PubMed ID

  • 11355152

Additional Document Info

volume

  • 248

issue

  • 3