Article Text

Download PDFPDF

Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation
  1. S Kurihara,
  2. Y Adachi,
  3. C Imai,
  4. H Araki,
  5. N Hattori,
  6. C Numakura,
  7. Y Lin,
  8. K Hayasaka,
  9. G Sobue,
  10. K Nakashima

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Background: The MPZ Thr124Met mutation is characterised by a late onset, pupillary abnormality, deafness, normal or moderate decreased motor nerve conduction velocity, and axonal damage in sural nerve biopsy.

    Objective: To investigate the clinical manifestations of the axonal or demyelinating forms of the Japanese MPZ Thr124Met mutation originating in four different areas: Tottori, Nara, Aichi, and Ibaragi.

    Results: Genotyping with DNA microsatellite markers linked to the MPZ gene on chromosome 1q22–q23 showed shared allelic characteristics between 12.65 cM and revealed a common haplotype in all Tottori families. Aichi and Ibaragi families shared parts of the haplotype around the MPZ gene. However, there was no consistency with a Nara family.

    Conclusions: The high frequency of this peculiar genotype in the Tottori CMT population is presumably due to a founder effect, but in Thr124 it might constitute a mutation hotspot in the MPZ gene.