SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q

• Published in: Neurology Vol. 56; no. 9; pp. 1230 - 1233
• Main Authors: HUGHES, C. A, BYRNE, P. C, WEBB, S, MCMONAGLE, P, PATTERSON, V, HUTCHINSON, M, PARFREY, N. A
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott Williams & Wilkins 08-05-2001
• Subjects: Biological and medical sciences; Chromosomes, Human, Pair 14 - genetics; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Genetic Linkage - genetics; Genotype; Humans; Medical sciences; Neurology; Pedigree; Spastic Paraplegia, Hereditary - genetics; Human; Nervous system diseases; Linkage; Motor system disorder; Family study; Spasticity; Muscle tonus alteration; Chromosome D14; Genetic determinism; Genetic disease; Striated muscle disease; Paraplegia; Phenotype; Autosomal character; Genetics; Recessive character; Complication; Degenerative disease; Neurological disorder; Locus; Haplotype
• ISSN: 0028-3878; 1526-632X
• DOI: 10.1212/WNL.56.9.1230

The authors studied two families with autosomal recessive hereditary spastic paraplegia (HSP) complicated by the presence of additional symptoms of pigmented maculopathy, distal amyotrophy, dysarthria, mental retardation, and further intellectual deterioration. Evidence was obtained for linkage to a locus on chromosome 14q that is distinct from the SPG3 locus for autosomal dominant HSP (D14S77: lod score of 4.20 at zero recombination). Haplotype construction of nearby markers confirms the existence of this novel HSP locus (SPG15) and narrows it to a 19-cM interval flanked by D14S1038 and D14S61.