| BackgroundHereditary spastic paraplegia (HSP or SPG) is a kind of hereditary disorder of nervous system. Autosomal dominant (AD), autosomal recessive (AR), X-linked inheritance have been described for HSP. Rapid progress is made in the molecular genetics of HSP. To date, 19 loci have been identified. HSP is characterized by progressive lower-limb weakness and spasticity. The prevalence of HSP is 2.0 to 9.6/100000. Clinically, there are two types of HSP: the pure form, which is characterized excluding by leg spasticity often with bladder disturbance; and the complicated form, which includes additional neurological abnormalities such as mental retardation, dementia, extrapyramidal disturbance, ataxia, optic neuropathy, retinitis pigmentosa, deafness, muscular atrophy and polyneuropathy. It is difficult to have a diagnosis of HSP for HSP is a clinically and genetically heterogeneous group of disorders.ObjectiveTo investigate the clinical features of hereditary spastic paraplegia and improve the knowledge of it.MethodsThe clinical materials of 77 HSP patients in 56 families from all over the country which were collected from 1988 to 2001 were analyzed retrospectively.ResultsIn the HSP group, the ratio of male to female was 1.75:1.The age at HSP onset was from two to 51 years old, the mean age was 18.2 years old, and 77.6% of the patients had HSP before 20. 42 kindreds (75%) had positive family history, among which 27 kindreds showed autosomaldominant inheritance and 15 kindreds showed autosomal recessive inheritance And ten kindreds were consanguinities.In the HSP group, most patients present with progressive stiffness and weakness of legs, or difficulty walking or gait disturbance. We could find the weakness of legs in 58.4% patients, spasticity and hyperreflexia of lower limbs in 90.9% and 93.5% respectively, extensor plantar responses in 88.3%, ankle clonus in 70.1%, patella clonus in 29.9%, weakness, spasticity and hyperreflexia of upper limbs in 9.1%, 15.6% and 36.4% respectively, positive Hoffmann sign in 29.9%, bladder disturbance in 27.3%, and scissor gait in 93.5%, mental impairment in 26.0%, extrapyramidal signs in 9.1%, ataxia in 51.9%, muscular atrophy in 16.9%, skeleton malformation in 15.6%, descent deep sensation and descent minor sensation in 18.2% and 7.8% respectively, and ichthyosis in 3.9%. 19 cases had pure while 58 cases had complicated spastic paraplegia.Electromyographies were performed on 18 patients. 9 cases showed decreased nerve conduction; Somato-sensory evoked potentials were measured on 12 patients. 6 cases showed that the nerve conduction velocity decreased greatly; Thoracispinal MRI were made in 13 cases, 5 cases showed atrophy of thoracic spinal cord; Cranial CT or MRI were performed in 28 cases, 5 cased showed hypoplasia of corpus callosum, 3 cased showed atrophy of cerebellum, 1 case showed atrophy of cerebrum.The clinical features of 5 patients of hereditary spastic paraplegia with thin corpun callosum (HSP-TCC) consisted of slowly progressive weakness and spasticity of the lower extremities in early second decade, stiffness of legs, hyperreflexia, extensor plantar responses and mental impairment. They inherited in autosomal recessive mode or were sporadic cases. Cranial MRI revealed an extremely thin corpus callosum.Conclusion(l)In the HSP group, the year of onset was mostly before 20, the maled were more than the females, and the complicated cases were more often than the pure. Besides the spasticity of lower limbs, ataxia was the mostly frequent symptom. Atrophy of thoracic spinal cord can be seen in thoracispinal MRI. Autosomal dominant was the mostly frequentinheritance. The increase of autosomal recessive rate was caused by consanguinity.(2)Hereditary spastic paraplegia with thin corpus callosum was characterized by slowly progressive spastic paraparesis, mental impairment developing from the early second decade. Cranial MRI revealed extremely thin corpus callosum. Inheritance modes were consistent with autosomal...
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