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Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19 |
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| Authors: | K. G. Meilleur M. Traoré M. Sangaré A. Britton G. Landouré S. Coulibaly B. Niaré F. Mochel A. La Pean I. Rafferty C. Watts D. Shriner M. T. Littleton-Kearney C. Blackstone A. Singleton K. H. Fischbeck |
| Affiliation: | 1. Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA 10. Center for Research on Genomics and Global Health, National Human Genome Research Institute, 12 South Drive, MSC 5635, Building 12A, Room 4047, Bethesda, MD, 20892, USA 2. National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA 3. School of Nursing, Johns Hopkins University, Baltimore, MD, USA 9. Center for Research on Genomics and Global Health, National Institutes of Health, Bethesda, MD, USA 4. Department of Neurology, Point G Hospital, Bamako, Mali 5. National Institute of Aging, National Institutes of Health, Bethesda, MD, USA 6. University College London, London, UK 7. Department of Psychiatry, Point G Hospital, Bamako, Mali 8. INSERM U679, H?pital La Salpêtrière, Paris, France |
| Abstract: | 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. |
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