Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus

Hereditary spastic paraplegias are neurodegenerative disorders characterized clinically by progressive spasticity of the lower limbs. They are inherited as autosomal dominant, autosomal recessive, and X-linked traits. Four Italian families with autosomal recessive pure spastic paraplegia are reporte...

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Bibliographic Details
Published in:Neurogenetics 2004-02, Vol.5 (1), p.49-54
Main Authors: MUGLIA, M, CRISCUOLO, C, CONFORTI, F. L, SPROVIERI, T, MORGANTE, L, EPIFANIO, A, LA SPINA, P, VALENTINO, P, GASPARINI, P, FILLA, A, QUATTRONE, A, MAGARIELLO, A, DE MICHELE, G, SCARANO, V, D'ADAMO, P, AMBROSIO, G, GABRIELE, A. L, PATITUCCI, A, MAZZEI, R
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Chromosomes
Chromosomes, Human, Pair 8
Family Health
Female
Genes, Recessive
Genetic Markers
Genetics
Humans
Italy
Lod Score
Male
Medical sciences
Middle Aged
Mutation
Nervous system (semeiology, syndromes)
Nervous system as a whole
Neurology
Paralysis
Paraplegia - genetics
Pedigree
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Summary:Hereditary spastic paraplegias are neurodegenerative disorders characterized clinically by progressive spasticity of the lower limbs. They are inherited as autosomal dominant, autosomal recessive, and X-linked traits. Four Italian families with autosomal recessive pure spastic paraplegia are reported. We show evidence of linkage to the SPG5 locus on chromosome 8p and our data reduce the candidate interval for SPG5 to the11-cM interval spanned by D8S285 and D8S544. We also report the search for mutations in five genes located in the region and their exclusion as candidates for SPG5.
ISSN:1364-6745
1364-6753
DOI:10.1007/s10048-003-0167-7