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Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.

Human mutation - 1 Aug 2002

Sauter S, Miterski B, Klimpe S, Bönsch D, Schöls L, Visbeck A, Papke T, Hopf H C, Engel W, Deufel T, Epplen J T, Neesen J

Abstract excerpt

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 common form of autosomal dominant hereditary spastic paraplegia. It is caused by mutations in the SPG4 gene encoding...

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Adenosine Triphosphatases
Age of Onset
Chromosome Deletion
Contractile Proteins
Genes, Dominant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spastic Paraplegia, Hereditary

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PMID: 12124993
DOI: 10.1002/humu.10105

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