title: Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family.
abstract: Autosomal dominant familial spastic paraplegias (AD-FSP) are a group of genetically heterogeneous diseases characterised by a progressive spasticity of the lower limbs. Three loci have already been identified by genetic linkage studies on chromosomes 2p, 14q and 15q. Here we present linkage data from a large German family displaying AD-FSP with anticipation which confirms the existence of the FSP2 locus on chromosome 2p. The recombination events observed in our family define the critical region for the FSP2 gene to be within a 4-cM interval, flanked by markers D2S400 and D2S367. Moreover, clinical data from our family show evidence of anticipation, a phenomenon caused by trinucleotide expansion in several other neurodegenerative diseases.
authors.affiliation: Institute of Human Genetics, Virchow-Klinikum, Humboldt-Universität, Berlin, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Bürger
authors.forename: H
authors.initials: H
authors.lastname: Metzke
authors.forename: C
authors.initials: C
authors.lastname: Paternotte
authors.forename: F
authors.initials: F
authors.lastname: Schilling
authors.forename: J
authors.initials: J
authors.lastname: Hazan
authors.forename: A
authors.initials: A
authors.lastname: Reis
mesh_terms: D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005858:Germany; D006801:Humans; D008297:Male; D010264:Paraplegia / Q000235:genetics*; D010375:Pedigree; D011995:Recombination, Genetic