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Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation
  1. S Kurihara1,
  2. Y Adachi1,
  3. C Imai1,
  4. H Araki1,
  5. N Hattori2,
  6. C Numakura3,
  7. Y Lin4,
  8. K Hayasaka3,
  9. G Sobue2,
  10. K Nakashima
  1. 1Department of Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan
  2. 2Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
  3. 3Department of Paediatrics, Yamagata University, School of Medicine, Yamagata, Japan
  4. 4Department of Immunology, National Institute of Neuroscience, National Centre of Neurology and Psychiatry, Japan
  1. Correspondence to:
 Dr Saiko Kurihara
 Department of Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, 36-1 Nishimachi, Yonago, Tottori 683-8504 Japan; psychok3.dion.ne.jp

Abstract

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.

  • CMAP, compound muscle action potential
  • CMT, Charcot-Marie-Tooth disease
  • CMT1, Charcot-Marie-Tooth disease type 1
  • CMT2, Charcot-Marie-Tooth disease type 2
  • DSS, Dejerine-Sottas disease
  • MNCV, motor nerve conduction velocity
  • MPZ, myelin protein zero
  • NCV, nerve conduction velocity
  • MPZ Thr124Met
  • haplotype
  • CMT2
  • CMT1B

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Footnotes

  • Competing interests: none declared