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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
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Description
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.
Authors & Co-Authors
Meilleur, Katherine Gloria
United States, Bethesda
National Institute of Neurological Disorders and Stroke
United States, Bethesda
National Institute of Nursing Research Ninr
United States, Baltimore
Johns Hopkins University
United States, Bethesda
National Institutes of Health Nih
United States, Bethesda
National Human Genome Research Institute Nhgri
Traoré, Mahamadou Namory
Mali, Bamako
Chu Point g
Sangaré, Modibo
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Mali, Bamako
Chu Point g
Britton, Angela F.
United States, Bethesda
National Institutes of Health Nih
Landouré, Guida
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Mali, Bamako
Chu Point g
United Kingdom, London
University College London
Coulibaly, Souleymane B.
Mali, Bamako
Chu Point g
Niaré, Boubacar
Mali, Bamako
Chu Point g
Mochel, Fanny
France, Paris
Hôpital Universitaire Pitié Salpêtrière
la Pean, Alison
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Rafferty, I.
United States, Bethesda
National Institutes of Health Nih
Watts, C.
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Shriner, Daniel A.
United Kingdom, London
University College London
United States, Bethesda
National Institutes of Health Nih
Littleton-Kearney, M. T.
United States, Baltimore
Johns Hopkins University
Blackstone, Craig
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Singleton, Andrew B.
United States, Bethesda
National Institutes of Health Nih
Fischbeck, Kenneth H.
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Statistics
Citations: 23
Authors: 16
Affiliations: 8
Identifiers
Doi:
10.1007/s10048-009-0230-0
ISSN:
13646745
Study Locations
Mali