ORIGINAL ARTICLE

neurogenetics

, Volume 11, Issue 3, pp 313-318

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

  • K. G. MeilleurAffiliated withNeurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of HealthNational Institute of Nursing Research, National Institutes of HealthSchool of Nursing, Johns Hopkins UniversityCenter for Research on Genomics and Global Health, National Institutes of HealthCenter for Research on Genomics and Global Health, National Human Genome Research Institute Email author 
  • , M. TraoréAffiliated withDepartment of Neurology, Point G Hospital
  • , M. SangaréAffiliated withNeurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of HealthDepartment of Neurology, Point G Hospital
  • , A. BrittonAffiliated withNational Institute of Aging, National Institutes of Health
  • , G. LandouréAffiliated withNeurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of HealthDepartment of Neurology, Point G HospitalUniversity College London
  • , S. CoulibalyAffiliated withDepartment of Psychiatry, Point G Hospital
  • , B. NiaréAffiliated withDepartment of Neurology, Point G Hospital
  • , F. MochelAffiliated withINSERM U679, Hôpital La Salpêtrière
  • , A. La PeanAffiliated withNeurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health
    • , I. RaffertyAffiliated withNational Institute of Aging, National Institutes of Health
    • , C. WattsAffiliated withNeurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health
    • , D. ShrinerAffiliated withCenter for Research on Genomics and Global Health, National Institutes of Health
    • , M. T. Littleton-KearneyAffiliated withSchool of Nursing, Johns Hopkins University
    • , C. BlackstoneAffiliated withNeurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health
    • , A. SingletonAffiliated withNational Institute of Aging, National Institutes of Health
    • , K. H. FischbeckAffiliated withNeurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health

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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