title: A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21.
abstract: Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders characterized by progressive spasticity of the lower limbs. Here, we performed a genome-wide linkage analysis on a consanguineous family presenting an autosomal recessive form of HSP associated with mild mental retardation, brainstem dysraphia, and clinically asymptomatic cerebellar atrophy. We have mapped the disease locus SPG32 to chromosome 14q12-q21 within a 30-cM interval, which excludes the atlastin gene.
authors.affiliation: INSERM U679, Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital, Paris, France.
authors.forename: G
authors.initials: G
authors.lastname: Stevanin
authors.forename: C
authors.initials: C
authors.lastname: Paternotte
authors.forename: P
authors.initials: P
authors.lastname: Coutinho
authors.forename: S
authors.initials: S
authors.lastname: Klebe
authors.forename: N
authors.initials: N
authors.lastname: Elleuch
authors.forename: J L
authors.initials: JL
authors.lastname: Loureiro
authors.forename: E
authors.initials: E
authors.lastname: Denis
authors.forename: V T
authors.initials: VT
authors.lastname: Cruz
authors.forename: A
authors.initials: A
authors.lastname: Dürr
authors.forename: J-F
authors.initials: JF
authors.lastname: Prud'homme
authors.forename: J
authors.initials: J
authors.lastname: Weissenbach
authors.forename: A
authors.initials: A
authors.lastname: Brice
authors.forename: J
authors.initials: J
authors.lastname: Hazan
mesh_terms: D000328:Adult; D001933:Brain Stem / Q000002:abnormalities / Q000378:metabolism / Q000503:physiopathology; D002531:Cerebellum / Q000002:abnormalities / Q000378:metabolism / Q000503:physiopathology; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics; D019204:GTP-Binding Proteins; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D008297:Male; D008565:Membrane Proteins; D009154:Mutation / Q000235:genetics*; D009421:Nervous System Malformations / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology
chemical_list: D005819:Genetic Markers; D008565:Membrane Proteins; C440006:ATL1 protein, human; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins