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Mutations in the Novel Mitochondrial Protein REEP1 Cause Hereditary Spastic Paraplegia Type 31

✍ Scribed by Stephan Züchner; Gaofeng Wang; Khanh-Nhat Tran-Viet; Martha A. Nance; Perry C. Gaskell; Jeffery M. Vance; Allison E. Ashley-Koch; Margaret A. Pericak-Vance

Book ID: 117854846
Publisher: American Society of Human Genetics
Year: 2006
Tongue: English
Weight: 626 KB
Volume: 79
Category: Article
ISSN: 0002-9297
DOI: 10.1086/505361

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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