An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).
OBJECTIVE
Seven families were studied with an axonal form of Charcot-Marie-Tooth disease (CMT) associated with mutations in the peripheral myelin protein zero (MPZ) gene-Thr124Met or Asp75Val.


RESULTS
Patients with these mutations commonly showed relatively late onset sensorimotor neuropathy predominantly involving the lower limbs. Sensory impairment typically was marked, and distal muscle atrophy and weakness were also present in the legs. Adie's pupil and deafness were often present, and serum creatine kinase concentrations were often raised irrespective of which MPZ mutation was present. Relatively well preserved motor and sensory nerve conduction velocities contrasted with reduced or absent compound muscle action potentials and sensory nerve action potentials. Axonal change with marked axonal sprouting was seen in sural nerve specimens.


CONCLUSIONS
The similar associated clinical findings suggest that patients with axonal CMT with an MPZ gene mutation share distinctive clinical features.
Misu
K
K
Department of Neurology, Nagoya University School of Medicine, 65 Tsurumai-cho Showa-ku Nagoya 466-8550, Japan.
Yoshihara
T
T
Shikama
Y
Y
Awaki
E
E
Yamamoto
M
M
Hattori
N
N
Hirayama
M
M
Takegami
T
T
Nakashima
K
K
Sobue
G
G
D000328:Adult; D001369:Axons / Q000473:pathology*; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D018993:Myelin P0 Protein / Q000235:genetics*; D009431:Neural Conduction / Q000235:genetics; D010375:Pedigree; D013497:Sural Nerve / Q000473:pathology
D018993:Myelin P0 Protein