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Article

Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene.

Journal of neurology, neurosurgery, and psychiatry - 1 Aug 2003

Bönsch D, Schwindt A, Navratil P, Palm D, Neumann C, Klimpe S, Schickel J, Hazan J, Weiller C, Deufel T, Liepert J

Abstract excerpt

BACKGROUND: Hereditary spastic paraparesis (HSP) denotes a group of inherited neurological disorders with progressive lower limb spasticity as their clinical hallmark; a large proportion of autosomal dominant HSP belongs to HSP type 4, which has been linked to the SPG4 locus on chromosome 2. A variety of mutations have been identified within the SPG4 gene product, spastin. OBJECTIVE: Correlation of genotype and...

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Adenosine Triphosphatases
Calcium-Binding Proteins
Chromosome Aberrations
DNA Mutational Analysis
Genes, Dominant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Neurologic Examination

Spastic Paraplegia, Hereditary

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Identifiers

PMID: 12876245
DOI: 10.1136/jnnp.74.8.1109
PMCID: PMC1738610

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