Article
Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.
Human mutation - 1 Jun 2013
Varga Rita-Eva, Schüle Rebecca, Fadel Hicham, Valenzuela Irene, Speziani Fiorella, Gonzalez Michael, Rudenskaia Galina, Nürnberg Gudrun, Thiele Holger, Altmüller Janine, Alvarez Victoria, Gamez Josep, Garbern James Y, Nürnberg Peter, Zuchner Stephan, Beetz Christian
Abstract excerpt
The hereditary spastic paraplegias (HSPs), a group of neurodegenerative movement disorders, are among the genetically most heterogeneous clinical conditions. Still, the more than 50 forms known so far apparently explain less than 80% of cases. The present study identified two large HSP families, which seemed to show an autosomal recessive and an X-linked inheritance pattern. A set of genetic analyses including...
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