title: SPG3A: An additional family carrying a new atlastin mutation.
abstract: The authors report on a novel frameshift mutation (c.1688insA) in the SPG3A gene resulting in premature translation termination of the gene product atlastin. These data add a new variant to the second disease gene in autosomal dominant hereditary spastic paraplegia (ADHSP) and lend definitive support to its causative role. By combining direct testing of SPAST and SPG3A, at least 50% of ADHSP families can now receive appropriate genetic diagnosis.
authors.affiliation: Molecular Medicine and Neurology, IRCCS-Bambino Gesú Hospital, Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Tessa
authors.forename: C
authors.initials: C
authors.lastname: Casali
authors.forename: M
authors.initials: M
authors.lastname: Damiano
authors.forename: C
authors.initials: C
authors.lastname: Bruno
authors.forename: D
authors.initials: D
authors.lastname: Fortini
authors.forename: C
authors.initials: C
authors.lastname: Patrono
authors.forename: F
authors.initials: F
authors.lastname: Cricchi
authors.forename: M
authors.initials: M
authors.lastname: Valoppi
authors.forename: G
authors.initials: G
authors.lastname: Nappi
authors.forename: G A
authors.initials: GA
authors.lastname: Amabile
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004247:DNA / Q000032:analysis / Q000235:genetics; D004251:DNA Transposable Elements / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D020558:GTP Phosphohydrolases / Q000235:genetics*; D019204:GTP-Binding Proteins; D005787:Gene Frequency; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007558:Italy; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology
chemical_list: D004251:DNA Transposable Elements; D008565:Membrane Proteins; D004247:DNA; C440006:ATL1 protein, human; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins