neurogenetics

, Volume 11, Issue 3, pp 313–318

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

  • 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
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
  • 68 Views

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 paraplegiaAmyotrophyAutosomal recessiveChromosome 19SPG43

Copyright information

© US Government 2009

Authors and Affiliations

  • K. G. Meilleur
    • 1
    • 2
    • 3
    • 9
    • 10
  • M. Traoré
    • 4
  • M. Sangaré
    • 1
    • 4
  • A. Britton
    • 5
  • G. Landouré
    • 1
    • 4
    • 6
  • S. Coulibaly
    • 7
  • B. Niaré
    • 4
  • F. Mochel
    • 8
  • A. La Pean
    • 1
  • I. Rafferty
    • 5
  • C. Watts
    • 1
  • D. Shriner
    • 9
  • M. T. Littleton-Kearney
    • 3
  • C. Blackstone
    • 1
  • A. Singleton
    • 5
  • K. H. Fischbeck
    • 1
  1. 1.Neurogenetics Branch, National Institute of Neurological Disorders and StrokeNational Institutes of HealthBethesdaUSA
  2. 2.National Institute of Nursing ResearchNational Institutes of HealthBethesdaUSA
  3. 3.School of NursingJohns Hopkins UniversityBaltimoreUSA
  4. 4.Department of NeurologyPoint G HospitalBamakoMali
  5. 5.National Institute of AgingNational Institutes of HealthBethesdaUSA
  6. 6.University College LondonLondonUK
  7. 7.Department of PsychiatryPoint G HospitalBamakoMali
  8. 8.INSERM U679Hôpital La SalpêtrièreParisFrance
  9. 9.Center for Research on Genomics and Global HealthNational Institutes of HealthBethesdaUSA
  10. 10.Center for Research on Genomics and Global HealthNational Human Genome Research InstituteBethesdaUSA