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

• Published in: Neurogenetics Vol. 11; no. 3; pp. 313 - 318
• Main Authors: Meilleur, K. G., Traoré, M., Sangaré, M., Britton, A., Landouré, G., Coulibaly, S., Niaré, B., Mochel, F., La Pean, A., Rafferty, I., Watts, C., Shriner, D., Littleton-Kearney, M. T., Blackstone, C., Singleton, A., Fischbeck, K. H.
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer-Verlag 01.07.2010; Springer; Springer Nature B.V
• Subjects: Adolescent; Age of Onset; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Brachial Plexus Neuritis - genetics; Chromosomes; Chromosomes, Human, Pair 19 - genetics; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Female; Fundamental and applied biological sciences. Psychology; Genetic disorders; Genetic Loci; Genetics of eukaryotes. Biological and molecular evolution; Homozygote; Human Genetics; Humans; Mali; Medical sciences; Molecular and cellular biology; Molecular Medicine; Muscular system; Neurology; Neurosciences; Original Article; Paralysis; Pedigree; Polymorphism, Single Nucleotide; Siblings; Spastic Paraplegia, Hereditary - genetics; Vertebrates: nervous system and sense organs; Young Adult; Mali; Hereditary spastic paraplegia; Chromosome 19; Autosomal recessive; Amyotrophy; SPG43; Nervous system diseases; Cerebral disorder; Genetic disease; Chromosome F19; Neurology; Striated muscle disease; Autosomal character; Central nervous system disease; Recessive character; Genetics; Degenerative disease; Locus; Spinal cord disease
• ISSN: 1364-6745; 1364-6753
• DOI: 10.1007/s10048-009-0230-0

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.