neurogenetics

, Volume 11, Issue 3, pp 313–318

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

Authors

    • Neurogenetics Branch, National Institute of Neurological Disorders and StrokeNational Institutes of Health
    • National Institute of Nursing ResearchNational Institutes of Health
    • School of NursingJohns Hopkins University
    • Center for Research on Genomics and Global HealthNational Institutes of Health
    • Center for Research on Genomics and Global HealthNational Human Genome Research Institute
  • M. Traoré
    • Department of NeurologyPoint G Hospital
  • M. Sangaré
    • Neurogenetics Branch, National Institute of Neurological Disorders and StrokeNational Institutes of Health
    • Department of NeurologyPoint G Hospital
  • A. Britton
    • National Institute of AgingNational Institutes of Health
  • G. Landouré
    • Neurogenetics Branch, National Institute of Neurological Disorders and StrokeNational Institutes of Health
    • Department of NeurologyPoint G Hospital
    • University College London
  • S. Coulibaly
    • Department of PsychiatryPoint G Hospital
  • B. Niaré
    • Department of NeurologyPoint G Hospital
  • F. Mochel
    • INSERM U679Hôpital La Salpêtrière
  • A. La Pean
    • Neurogenetics Branch, National Institute of Neurological Disorders and StrokeNational Institutes of Health
  • I. Rafferty
    • National Institute of AgingNational Institutes of Health
  • C. Watts
    • Neurogenetics Branch, National Institute of Neurological Disorders and StrokeNational Institutes of Health
  • D. Shriner
    • Center for Research on Genomics and Global HealthNational Institutes of Health
  • M. T. Littleton-Kearney
    • School of NursingJohns Hopkins University
  • C. Blackstone
    • Neurogenetics Branch, National Institute of Neurological Disorders and StrokeNational Institutes of Health
  • A. Singleton
    • National Institute of AgingNational Institutes of Health
  • K. H. Fischbeck
    • Neurogenetics Branch, National Institute of Neurological Disorders and StrokeNational Institutes of Health
ORIGINAL ARTICLE

DOI: 10.1007/s10048-009-0230-0

Cite this article as:
Meilleur, K.G., Traoré, M., Sangaré, M. et al. Neurogenetics (2010) 11: 313. doi:10.1007/s10048-009-0230-0

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.

Keywords

Hereditary spastic paraplegia Amyotrophy Autosomal recessive Chromosome 19 SPG43

Copyright information

© US Government 2009