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Article

Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19.

Neurogenetics - 1 Jul 2010

Meilleur K G, Traoré M, Sangaré M, Britton A, Landouré G, Coulibaly S, Niaré B, Mochel F, La Pean A, Rafferty I, Watts C, Shriner D, Littleton-Kearney M T, Blackstone C, Singleton A, Fischbeck K H

Abstract excerpt

We identified a family in Mali with two sisters affected by spastic paraplegia. In addition to spasticity and weakness of the lower limbs, the patients had marked atrophy of the distal upper extremities. Homozygosity mapping using single nucleotide polymorphism arrays showed that the sisters shared a region of extended homozygosity at chromosome 19p13.11-q12 that was not shared by controls. These findings...

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Identifiers

PMID: 20039086
DOI: 10.1007/s10048-009-0230-0
PMCID: PMC2891134

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