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Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia 被引量:1
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作者 DU Juan SHEN Lu +8 位作者 ZHAO Guo-hua wang yin-guang LIAO Shu-sheng CHEN Chong ZHOU Zhi-fan LUO Ying-ying JIANG Hong XIA Kun TANG Bei-sha 《Chinese Medical Journal》 SCIE CAS CSCD 2009年第17期2064-2066,共3页
Hereditary spastic paraplegia (HSP), also known as familial spastic paraparesis or Stumpell-Lorrain disease, is a large group of inherited, heterogeneous neurologic disorders caused by the degeneration of corticosp... Hereditary spastic paraplegia (HSP), also known as familial spastic paraparesis or Stumpell-Lorrain disease, is a large group of inherited, heterogeneous neurologic disorders caused by the degeneration of corticospinal axons. The prevalence is estimated at 3-10 cases per 100000 people in Europe, and is uncertain in other continents. Most patients have the same core features, which are characterized by spastic gait, lower limb hypertonicity, hyperreflexia, extensor-plantar responses, muscle weakness, and occasionally decreased vibration sense at the ankles, bladder dysfunction, pes cavus, or scoliosis. 展开更多
关键词 spastic paraplegia hereditary REEP1 DNA mutational analysis
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