title: Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).
abstract: We describe a Brazilian family in which inheritance of a G106R mutation in the SPG6 gene (also know as NIPA1) resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigations indicated that this family has a pure form of spastic paraplegia. All patients presented with gait difficulty in their twenties, progressing to frank spastic paraplegia during the next decade. Our report further supports evidence that mutations in SPG6 cause ADHSP.
authors.affiliation: Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil.
authors.forename: Renato P
authors.initials: RP
authors.lastname: Munhoz
authors.forename: Toshitaka
authors.initials: T
authors.lastname: Kawarai
authors.forename: Helio A
authors.initials: HA
authors.lastname: Teive
authors.forename: Salmo
authors.initials: S
authors.lastname: Raskin
authors.forename: Christine
authors.initials: C
authors.lastname: Sato
authors.forename: Yan
authors.initials: Y
authors.lastname: Liang
authors.forename: Peter H
authors.initials: PH
authors.lastname: St George-Hyslop
authors.forename: Ekaterina
authors.initials: E
authors.lastname: Rogaeva
mesh_terms: D000328:Adult; D001938:Brazil; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D005260:Female; D005500:Follow-Up Studies; D020233:Gait Disorders, Neurologic / Q000175:diagnosis / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D009460:Neurologic Examination; D010375:Pedigree; D017422:Sequence Analysis, DNA; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; C478824:NIPA1 protein, human