A novel locus for autosomal dominant uncomplicated hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3

• Published in: Human genetics Vol. 122; no. 3-4; pp. 261 - 273
• Main Authors: HANEIN, Sylvain, DÜRR, Alexandra, BRICE, Alexis, STEVANIN, Giovanni, RIBAI, Pascale, FORLANI, Sylvie, LEUTENEGGER, Anne-Louise, NELSON, Isabelle, BABRON, Marie-Claude, ELLEUCH, Nizar, DEPIENNE, Christel, CHARON, Céline
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01.11.2007; Berlin Springer Nature B.V; New York, NY
• Subjects: Adolescent; Adult; Age of Onset; Aged; Biological and medical sciences; Child; Chromosome Mapping; Chromosomes; Chromosomes, Human, Pair 10 - genetics; Chromosomes, Human, Pair 8 - genetics; Classical genetics, quantitative genetics, hybrids; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Female; Fundamental and applied biological sciences. Psychology; Genes; Genes, Dominant; Genetic Markers; Genetics of eukaryotes. Biological and molecular evolution; Haplotypes; Human; Humans; Kinesin - genetics; Lod Score; Male; Medical sciences; Methods, theories and miscellaneous; Microsatellite Repeats; Middle Aged; Mutation; Nerve Tissue Proteins - genetics; Neuregulin-1; Neurology; Paralysis; Patients; Pedigree; Spastic Paraplegia, Hereditary - genetics; Spasticity; France; Paris France; Genetic mapping; Hereditary spastic paraplegia; Nervous system diseases; Central nervous system disease; Genetics; Degenerative disease; Autosome; Locus; Spinal cord disease; Genetic disease; Cerebral disorder

Hereditary spastic paraplegias (HSPs) are genetically and phenotypically heterogeneous. Both "uncomplicated" and "complicated" forms have been described, with autosomal dominant, autosomal recessive, and X-linked inheritance. Hitherto, ten autosomal dominant "uncomplicated&q...