Open AccessEight Novel Mutations in SPG4 in a Large Sample of Patients With Hereditary Spastic Paraplegia
Author(s) -
Francesca Crippa,
Chris Panzeri,
Andrea Martinuzzi,
Alessia Arnoldi,
Francesca Redaelli,
Alessandra Tonelli,
Cinzia Baschirotto,
Giovanni Vazza,
Maria Luisa Mostacciuolo,
Andrea Daga,
Genny Orso,
Paolo Profice,
Antonio Trabacca,
Maria Grazia D’Angelo,
Giacomo P. Comi,
Sara Galbiati,
C. Lamperti,
Sara Bonato,
Massimo Pandolfo,
G. Meola,
Olimpia Musumeci,
António Toscano,
Carlo P. Trevisan,
Nereo Bresolin,
Maria Teresa Bassi
Publication year - 2006
Publication title -
archives of neurology
Language(s) - English
Resource type - Journals
eISSN - 1538-3687
pISSN - 0003-9942
DOI - 10.1001/archneur.63.5.750
Subject(s) - hereditary spastic paraplegia , gene , genetics , exon , genetic heterogeneity , mutation , biology , phenotype
Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous disorders characterized by progressive spasticity of the lower limbs. Mutations in the SPG4 gene, which encodes spastin protein, are responsible for up to 45% of autosomal dominant cases.
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