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Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel

Andoni Echaniz-Laguna1, Anne-Sophie Nicot, Sophie Carré

  • 1Département de Neurologie, Hôpital Civil de Strasbourg, 1 Place de l'Hôpital, BP426, 67091 Strasbourg, France. Echaniz-Laguna@medecine.u-strasbg.fr

Neuromuscular Disorders : NMD
|September 11, 2007
PubMed

Insights

Dynamin 2 (DNM2) gene mutations can cause centronuclear myopathy and Charcot-Marie-Tooth disease. A novel mutation (E368Q) in DNM2 was identified in a family with overlapping symptoms, including mild cognitive impairment.

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Dynamin 2 (DNM2) is a large GTPase involved in membrane trafficking.
  • Mutations in DNM2 are linked to autosomal dominant centronuclear myopathy (DNM2-CNM) and Charcot-Marie-Tooth disease type 2B (DNM2-CMT2B).

Observation:

  • A family with five members presented with dominant centronuclear myopathy.
  • Patients exhibited mild cognitive impairment and mild axonal peripheral nerve involvement.
  • A novel mutation, E368Q, in the DNM2 gene was identified in affected individuals.

Findings:

  • The study identified a novel E368Q mutation in the DNM2 gene.
  • Phenotypes associated with DNM2 mutations, including centronuclear myopathy and peripheral neuropathy, were observed to overlap.
  • Mild cognitive impairment suggests potential central nervous system involvement.

Implications:

  • DNM2 mutations may contribute to a broader spectrum of neurological disorders than previously recognized.
  • The findings suggest a potential role for DNM2 in cerebral function.
  • Further research into the role of DNM2 in the central nervous system is warranted.

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