title: Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia.
abstract: We describe a Japanese family in which inheritance of a novel mutation p.A100T in SPG6 resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of SPG6.
authors.affiliation: Department of Neurology, Kitano Hospital, The Tazuke Kofukai Medical Institute, Osaka, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Kaneko
authors.forename: Toshitaka
authors.initials: T
authors.lastname: Kawarai
authors.forename: Edwin
authors.initials: E
authors.lastname: Yip
authors.forename: Shabnam
authors.initials: S
authors.lastname: Salehi-Rad
authors.forename: Christine
authors.initials: C
authors.lastname: Sato
authors.forename: Antonio
authors.initials: A
authors.lastname: Orlacchio
authors.forename: Giorgio
authors.initials: G
authors.lastname: Bernardi
authors.forename: Yan
authors.initials: Y
authors.lastname: Liang
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Hasegawa
authors.forename: Ekaterina
authors.initials: E
authors.lastname: Rogaeva
authors.forename: Peter
authors.initials: P
authors.lastname: St George-Hyslop
mesh_terms: D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics*; D004252:DNA Mutational Analysis; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009460:Neurologic Examination; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017433:Protein Structure, Secondary / Q000235:genetics; D017434:Protein Structure, Tertiary / Q000235:genetics; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; C478824:NIPA1 protein, human