Abstract | OBJECTIVES AND METHODS: 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.
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Authors | K Misu, T Yoshihara, Y Shikama, E Awaki, M Yamamoto, N Hattori, M Hirayama, T Takegami, K Nakashima, G Sobue |
Journal | Journal of neurology, neurosurgery, and psychiatry
(J Neurol Neurosurg Psychiatry)
Vol. 69
Issue 6
Pg. 806-11
(Dec 2000)
ISSN: 0022-3050 [Print] England |
PMID | 11080237
(Publication Type: Journal Article)
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Chemical References |
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Topics |
- Adult
- Axons
(pathology)
- Charcot-Marie-Tooth Disease
(genetics, pathology)
- Female
- Humans
- Male
- Middle Aged
- Mutation
(genetics)
- Myelin P0 Protein
(genetics)
- Neural Conduction
(genetics)
- Pedigree
- Sural Nerve
(pathology)
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