title: Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19.
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.
authors.affiliation: Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA. meilleurk@mail.nih.gov
authors.forename: K G
authors.initials: KG
authors.lastname: Meilleur
authors.forename: M
authors.initials: M
authors.lastname: Traoré
authors.forename: M
authors.initials: M
authors.lastname: Sangaré
authors.forename: A
authors.initials: A
authors.lastname: Britton
authors.forename: G
authors.initials: G
authors.lastname: Landouré
authors.forename: S
authors.initials: S
authors.lastname: Coulibaly
authors.forename: B
authors.initials: B
authors.lastname: Niaré
authors.forename: F
authors.initials: F
authors.lastname: Mochel
authors.forename: A
authors.initials: A
authors.lastname: La Pean
authors.forename: I
authors.initials: I
authors.lastname: Rafferty
authors.forename: C
authors.initials: C
authors.lastname: Watts
authors.forename: D
authors.initials: D
authors.lastname: Shriner
authors.forename: M T
authors.initials: MT
authors.lastname: Littleton-Kearney
authors.forename: C
authors.initials: C
authors.lastname: Blackstone
authors.forename: A
authors.initials: A
authors.lastname: Singleton
authors.forename: K H
authors.initials: KH
authors.lastname: Fischbeck
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D020968:Brachial Plexus Neuritis / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D005260:Female; D056426:Genetic Loci; D006720:Homozygote; D006801:Humans; D008302:Mali; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D035781:Siblings; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*; D055815:Young Adult