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The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia

✍ Scribed by Francesca D Ciccarelli; Christos Proukakis; Heema Patel; Harold Cross; Shakil Azam; Michael A Patton; Peer Bork; Andrew H Crosby

Book ID: 117592247
Publisher: Elsevier Science
Year: 2003
Tongue: English
Weight: 549 KB
Volume: 81
Category: Article
ISSN: 0888-7543
DOI: 10.1016/s0888-7543(03)00011-9

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Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. Autosomal dominant hereditary spastic paraplegia 4 linked to chromosome 2p (SPG4) is the most co