Axonal and demyelinating forms of the MPZ Thr124Met mutation.
OBJECTIVE
We report on a Japanese family with Charcot Marie Tooth disease (CMT) with the Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene.


METHODS
Based on the clinical study, we investigated MPZ gene by direct sequence analysis and polymerase chain reaction restriction fragment length polymorphism analysis.


RESULTS
Genotyping of four symptomatic family members showed that one family member with severe disease symptoms was homozygous, while the other three were heterozygous. The heterozygous cases were clinicopathologically determined to be the axonal type, which is characterized by late-onset and slow progression associated with Adie's pupil and deafness. The homozygous case was the demyelinating type, which showed earlier onset, rapid progression, sural nerve demyelination, and cranial nerve demyelination at autopsy.


CONCLUSIONS
We suggest that axonal and demyelinating forms of CMT are not two distinct classes, but rather parts of a spectrum of genotypically related conditions, particularly with some MPZ mutations.
Kurihara
S
S
Department of Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Tottori, Japan. saiko@grape.med.tottori-u.ac.jp
Adachi
Y
Y
Wada
K
K
Adachi
A
A
Ohama
E
E
Nakashima
K
K
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001344:Autopsy; D001369:Axons / Q000473:pathology*; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology*; D003241:Consanguinity; D004252:DNA Mutational Analysis; D003711:Demyelinating Diseases / Q000235:genetics*; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D008715:Methionine / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D018993:Myelin P0 Protein / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D013912:Threonine / Q000235:genetics
D018993:Myelin P0 Protein; D013912:Threonine; D008715:Methionine