title: SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.
abstract: Seven families with six different SPG3A mutations were identified among 106 with autosomal dominant hereditary spastic paraplegia (HSP). Two mutations were novel (T162P, C375R). SPG3A was twice as frequent as SPG4 in patients with onset before age 10 years (31.8%). Later onset was not observed. The phenotype was pure HSP, but disease duration was longer than in non-SPG3A/SPG4 patients, leading ultimately to greater handicap.
authors.affiliation: INSERM U679 (former 289), Federative Institute for Neuroscience Research (IFR70), Salpêtrière Hospital, Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Namekawa
authors.forename: P
authors.initials: P
authors.lastname: Ribai
authors.forename: I
authors.initials: I
authors.lastname: Nelson
authors.forename: S
authors.initials: S
authors.lastname: Forlani
authors.forename: F
authors.initials: F
authors.lastname: Fellmann
authors.forename: C
authors.initials: C
authors.lastname: Goizet
authors.forename: C
authors.initials: C
authors.lastname: Depienne
authors.forename: G
authors.initials: G
authors.lastname: Stevanin
authors.forename: M
authors.initials: M
authors.lastname: Ruberg
authors.forename: A
authors.initials: A
authors.lastname: Dürr
authors.forename: A
authors.initials: A
authors.lastname: Brice
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005192:Family Health; D020558:GTP Phosphohydrolases / Q000235:genetics*; D019204:GTP-Binding Proteins; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010525:Peripheral Nerves / Q000473:pathology / Q000503:physiopathology; D010641:Phenotype; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D014855:Wallerian Degeneration / Q000175:diagnosis / Q000235:genetics
chemical_list: D008565:Membrane Proteins; C440006:ATL1 protein, human; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins