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

被引：16

作者：

Meilleur, K. G. ^{[1
,2
,3
,4
,10
]}

Traore, M. ^{[5
]}

Sangare, M. ^{[2
,5
]}

Britton, A. ^{[6
]}

Landoure, G. ^{[2
,5
,7
]}

Coulibaly, S. ^{[8
]}

Niare, B. ^{[5
]}

Mochel, F. ^{[9
]}

La Pean, A. ^{[2
]}

Rafferty, I. ^{[6
]}

Watts, C. ^{[2
]}

Shriner, D. ^{[10
]}

Littleton-Kearney, M. T. ^{[4
]}

Blackstone, C. ^{[2
]}

Singleton, A. ^{[6
]}

Fischbeck, K. H. ^{[2
]}

机构：

[1] NHGRI, Ctr Res Genom & Global Hlth, Bethesda, MD 20892 USA

[2] NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA

[3] NINR, NIH, Bethesda, MD 20892 USA

[4] Johns Hopkins Univ, Sch Nursing, Baltimore, MD USA

[5] Point G Hosp, Dept Neurol, Bamako, Mali

[6] NIA, NIH, Bethesda, MD 20892 USA

[7] UCL, London, England

[8] Point G Hosp, Dept Psychiat, Bamako, Mali

[9] Hop La Pitie Salpetriere, INSERM, U679, Paris, France

[10] NIH, Ctr Res Genom & Global Hlth, Bethesda, MD 20892 USA

来源：

NEUROGENETICS | 2010年 / 11卷 / 03期

关键词：

Hereditary spastic paraplegia; Amyotrophy; Autosomal recessive; Chromosome; 19; SPG43; RECESSIVE TRAITS; TROYER-SYNDROME; PROTEIN; IDENTIFICATION; GENE; MAP;

D O I：

10.1007/s10048-009-0230-0

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

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.

引用

页码：313 / 318

页数：6

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