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Asymmetric phenotype associated with rare myelin protein zero mutation

Nizar Souayah1, Peter Siao Tick Chong

  • 1Department of Neurology and Neurosciences, University of Medicine and Dentistry of New Jersey, Newark, NJ, USA. souayani@umdnj.edu

Journal of Clinical Neuromuscular Disease
|March 11, 2010
PubMed

Insights

Myelin protein zero (MPZ) gene mutations can cause demyelinating neuropathies. A novel ARG98HIS MPZ mutation identified in a family suggests a cause for hereditary, mild, and asymmetric sensorimotor polyneuropathy.

Area of Science:

  • Neurology
  • Genetics
  • Molecular Biology

Background:

  • Myelin protein zero (MPZ) mutations are linked to demyelinating neuropathies with variable severity.
  • Hereditary neuropathies present a significant diagnostic challenge, often requiring genetic analysis.

Purpose of the Study:

  • To report a novel MPZ mutation (ARG98HIS) identified in a multi-generational family.
  • To characterize the clinical phenotype associated with this specific MPZ mutation.

Main Methods:

  • Clinical examination of affected individuals across three generations.
  • Electrophysiological studies including motor nerve conduction velocities and conduction block assessment.
  • Genetic testing to identify the causative MPZ mutation.

Main Results:

  • A 36-year-old male presented with progressive asymmetric weakness and electrophysiologically confirmed demyelinating sensorimotor polyneuropathy.
  • Genetic analysis revealed a novel ARG98HIS MPZ mutation.
  • Affected father and son exhibited overlapping but distinct clinical features, including high-arched feet and asymmetric muscle weakness.

Conclusions:

  • The ARG98HIS MPZ mutation is associated with hereditary, relatively mild, and asymmetric demyelinating sensorimotor polyneuropathy.
  • This finding expands the genotypic and phenotypic spectrum of MPZ-related neuropathies.

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