ABSTRACT
@# Objective To explore the characteristics of hereditary spastic paraplegia with thin corpus callosum (HSP-TCC). Methods Clinical, electrophysiological, MRI features of 3 patients with HSP-TCC were reported. The genetic characteristics were reviewed. Results 3 patients revealed difficulty in walking, slowly progressive weakness, spasticity of the lower limbs and mental impairment. The electromyogram in 2 cases showed neurogenic damage in lower limbs muscle, and 1 case showed peripheral nerve damage. Cerebral MRI showed an extremely thin corpus callosum on sagittal image. The locus of 15q13-15 has been identified for HSP-TCC, but some HSP-TCC families have not been linked to this locus.Conclusion HSP-TCC is a common subtype of complicated HSP inherited by autosomal recessive mode. Brain MRI showed extremely thin corpus callosum. Electromyogram many reveal neurogenic damage.
ABSTRACT
Objective To explore the clinical characteristics of hereditary spastic paraplegia with thin corpus callosum(HSP TCC).Methods Clinical data of 4 patients with HSP TCC were analysed retrospectively.Results 4 patients were at the onset during youngsters,they revealed mental impairment,walk of spasticity,spasticity of the lower extremities,slowly progressive weakness and hyperreflexia, extensor plantar responses and morbid indication for positive. Sensory impairment was not observed. 2 cases showed ataxia and sphincter disturbance;1 case showed upper limb spasticity and muscular atrophy. Cranial MRI revealed an extremely thin corpus callosum on sagittal image.Conclusion Main clinical characterizations of HSP TCC were slowly progressive spastic paraparesis, mental impairment during youngsters, cranial MRI showed extremely thin corpus callosum.