Hereditary pyramidal tract, corpus callosum and peripheral degeneration, one family report / 中华神经科杂志

ABSTRACT

Objective To report on an autosomal recessive pyramidal tract, corpus callosum and peripheral nerve degeneration in a family and to study its relationship with other complicated hereditary spastic paraparesis. Methods Neurological examination revealed the following findings. Proband was a 20 year old man who spoke slowly and developed mental retardation in his childhood. Gait disturbance with pyramidal signs and mild cerebellar ataxia were found when the patient was 16. Slight sensory disturbance was present in the lower extremities. His 23 year old sister had similar symptoms at beginning of disease when she was 17. Their clinical courses were bad progressively. Electromyogram showed nerve conduction velocity decrease in the nerve medianus and neurogenic process in the muscle tibialis anterior. Cranial MRI, muscle and nerve suralis biopsies were examined in proband patients. Results MRI showed thin corpus callosum with cerebral and cerebellar atrophy as well as enlargement of ventricle system. Myopathological findings were characterized by angular atrophy fibers in small groups with appearance of hypertrophy fibers. The nerve suralis biopsy showed degeneration and regeneration of myelinated axons. Conclusion Our study confirms that this family is hereditary spastic paraparesis with mental retardation, thin corpus callosum and polyneuropathy reported mostly in Japan. Axonal polyneuropathy is a common pathological feature of this disease.