Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation
- S Kurihara1,
- Y Adachi1,
- C Imai1,
- H Araki1,
- N Hattori2,
- C Numakura3,
- Y Lin4,
- K Hayasaka3,
- G Sobue2,
- K Nakashima
- 1Department of Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan
- 2Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
- 3Department of Paediatrics, Yamagata University, School of Medicine, Yamagata, Japan
- 4Department of Immunology, National Institute of Neuroscience, National Centre of Neurology and Psychiatry, Japan
- 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
- Received 3 June 2003
- Accepted 13 January 2004
- Revised 25 December 2003
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
Footnotes
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Competing interests: none declared
