Three Novel Mutations of the Spastin Gene in Chinese Patients With Hereditary Spastic Paraplegia
Open Access
- 1 January 2004
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Neurology
- Vol. 61 (1) , 49-55
- https://doi.org/10.1001/archneur.61.1.49
Abstract
Hereditary spastic paraplegia (HSP) comprises a group of inherited neurodegenerative disorders with the shared characteristics of slowly progressive spasticity and weakness of the lower limbs. Conventionally, they are divided into pure or complicated forms depending on whether the paraparesis exists in isolation or with other major clinical features, such as dementia, mental retardation, epilepsy, extrapyramidal disturbances, ataxia, deafness, retinopathy, optic neuropathy, peripheral neuropathy, and skin lesions.1 Hereditary spastic paraplegia can be inherited in an autosomal dominant (AD), autosomal recessive, or X-linked manner.Keywords
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