Publication Details

AFRICAN RESEARCH NEXUS

SHINING A SPOTLIGHT ON AFRICAN RESEARCH

biochemistry, genetics and molecular biology

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

Neurogenetics, Volume 11, No. 3, Year 2010

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 indicate a clinically and genetically distinct form of hereditary spastic paraplegia with amyotrophy, designated SPG43. © US Government 2009.

Statistics
Citations: 23
Authors: 16
Affiliations: 8
Identifiers
Study Locations
Mali