1. Diagnosis and Treatment of Hereditary Spastic Paraplegia and Genomic Typing.
- Author
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YU Wen-qian, DUAN Wen-yuan, JU Ji-feng, WANG Tong-jian, ZHU Meng, and HUANG Jing
- Subjects
FAMILIAL spastic paraplegia ,POLYNEUROPATHIES ,SYMPTOMS ,MEDICAL genetics ,GENETIC disorder diagnosis - Abstract
Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders with clinical and genetic heterogeneity. The main clinical feature is the progressive spasticity of lower limbs and myasthenia. HSPs are clinically divided into types: simple type and complicated form, the later with additional manifestations of more extensively neurological or non-neurological disorders. In genetics, HSPs are divided into four groups as follows: autosomal dominant, autosomal recessive, X-linked and mitochondrial traits, according to the inheritance modes. About 60 genetic subtypes have been described. With in-depth research on HSP, many new causative genes have been identified. We systematically reviewed the progress of HSPs, mainly including genotype and the corresponding clinical manifestations, for physicians to precisely identify the subtypes of HSP and to diagnose in genetics. [ABSTRACT FROM AUTHOR]
- Published
- 2014