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Hereditary spastic paraplegia caused by mutations in the SPG4 gene

✍ Scribed by Bürger, Joachim; Fonknechten, Nuria; Hoeltzenbein, Maria; Neumann, Luitgart; Bratanoff, Elfriede; Hazan, Jamilé; Reis, André


Book ID
110025021
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
287 KB
Volume
8
Category
Article
ISSN
1018-4813

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Hereditary spastic paraplegia (HSP) is a heterogeneous condition characterised in its pure form by progressive lower limb spasticity. Mutations in SPG4 (encoding spastin) may be responsible for up to 40% of autosomal dominant (AD) cases. A cohort of 41 mostly pure HSP patients from Britain and Austr

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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