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Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene

✍ Scribed by C. Tzoulis; P. S. Denora; F. M. Santorelli; L. A. Bindoff

Publisher: Springer
Year: 2008
Tongue: English
Weight: 118 KB
Volume: 255
Category: Article
ISSN: 0340-5354
DOI: 10.1007/s00415-008-0858-y

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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