RT Journal Article
SR Electronic
T1 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)
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP 806
OP 811
DO 10.1136/jnnp.69.6.806
VO 69
IS 6
A1 K Misu
A1 T Yoshihara
A1 Y Shikama
A1 E Awaki
A1 M Yamamoto
A1 N Hattori
A1 M Hirayama
A1 T Takegami
A1 K Nakashima
A1 G Sobue
YR 2000
UL http://jnnp.bmj.com/content/69/6/806.abstract
AB OBJECTIVES AND METHODS 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. CONCLUSION The similar associated clinical findings suggest that patients with axonal CMT with an MPZ gene mutation share distinctive clinical features.