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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)313-318
Number of pages6
JournalNeurogenetics
Volume11
Issue number3
DOIs
StatePublished - Jul 2010

Keywords

  • Amyotrophy
  • Autosomal recessive
  • Chromosome 19
  • Hereditary spastic paraplegia
  • SPG43

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Cellular and Molecular Neuroscience

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