Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.
Neurogenetics
; 5(1): 49-54, 2004 Feb.
Article
in En
| MEDLINE
| ID: mdl-14658060
ABSTRACT
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Paraplegia
/
Chromosomes, Human, Pair 8
/
Lod Score
Limits:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Country/Region as subject:
Europa
Language:
En
Journal:
Neurogenetics
Journal subject:
GENETICA
/
NEUROLOGIA
Year:
2004
Document type:
Article
Affiliation country:
Italy