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Novel mutations in the CYP7B1 gene cause hereditary spastic paraplegia

✍ Scribed by Li Cao; Qing-Zhou Fei; Wei-Guo Tang; Jian-Rong Liu; Lan Zheng; Qin Xiao; Song-Bin He; Yi Fu; Sheng-Di Chen

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 695 KB
Volume: 26
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.23466

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## Communicated by Christine Van Broeckhoven Hereditary spastic paraplegia (HSP) is a neurodegenerative disease characterized by lower-limb spasticity, hyperreflexia, progressive spastic gait abnormalities, and an extensor-plantar response. It is genetically very heterogeneous, with 28 Human Genome

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## Abstract **Background:** Autosomal recessive hereditary spastic paraplegia with thin corpus callosum is a neurodegenerative disorder characterized by spastic paraparesis, cognitive impairment, and peripheral neuropathy. The neuroradiologic hallmarks are thin corpus callosum and periventricular w