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

被引：0
|
作者：
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
机构：
[1] National Institutes of Health,Neurogenetics Branch, National Institute of Neurological Disorders and Stroke
[2] National Institutes of Health,National Institute of Nursing Research
[3] Johns Hopkins University,School of Nursing
[4] Point G Hospital,Department of Neurology
[5] National Institutes of Health,National Institute of Aging
[6] University College London,Department of Psychiatry
[7] Point G Hospital,INSERM U679
[8] Hôpital La Salpêtrière,Center for Research on Genomics and Global Health
[9] National Institutes of Health,Center for Research on Genomics and Global Health
[10] National Human Genome Research Institute,undefined
来源：
neurogenetics | 2010年 / 11卷
关键词：
Hereditary spastic paraplegia; Amyotrophy; Autosomal recessive; Chromosome 19; SPG43;
D O I：
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中图分类号：
学科分类号：
摘要：
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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页码：313 / 318
页数：5
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