Article
A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21.
Neurology - 22 May 2007
Stevanin G, Paternotte C, Coutinho P, Klebe S, Elleuch N, Loureiro J L, Denis E, Cruz V T, Dürr A, Prud'homme J-F, Weissenbach J, Brice A, Hazan J
Abstract excerpt
Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders characterized by progressive spasticity of the lower limbs. Here, we performed a genome-wide linkage analysis on a consanguineous family presenting an autosomal recessive form of HSP associated with mild mental retardation, brainstem dysraphia, and clinically asymptomatic cerebellar atrophy. We have mapped the disease locus SPG32 to...
Topics
- Adult
- Brain Stem
- Cerebellum
- Chromosome Mapping
- Chromosomes, Human, Pair 14
- Consanguinity
- DNA Mutational Analysis
- Female
- GTP Phosphohydrolases
- GTP-Binding Proteins
- Genetic Markers
- Genetic Predisposition to Disease
- Genetic Testing