title: A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration.
abstract: We detected a missense mutation in exon 10 of tau that causes a substitution at codon 279 (N279K) in a Japanese patient with a familial background of parkinsonism and dementia originally described as pallido-nigro-luysian degeneration. This mutation is the same as one seen in a Caucasian family with pallido-ponto-nigral degeneration. The similarities between these two families suggest a common genetic mechanism that may account for the peculiar distribution of neuroglial degeneration with tauopathy.
authors.affiliation: Hyogo Institute for Aging Brain and Cognitive Disorders, Himeji, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Yasuda
authors.forename: T
authors.initials: T
authors.lastname: Kawamata
authors.forename: O
authors.initials: O
authors.lastname: Komure
authors.forename: S
authors.initials: S
authors.lastname: Kuno
authors.forename: I
authors.initials: I
authors.lastname: D'Souza
authors.forename: P
authors.initials: P
authors.lastname: Poorkaj
authors.forename: J
authors.initials: J
authors.lastname: Kawai
authors.forename: S
authors.initials: S
authors.lastname: Tanimukai
authors.forename: Y
authors.initials: Y
authors.lastname: Yamamoto
authors.forename: H
authors.initials: H
authors.lastname: Hasegawa
authors.forename: M
authors.initials: M
authors.lastname: Sasahara
authors.forename: F
authors.initials: F
authors.lastname: Hazama
authors.forename: G D
authors.initials: GD
authors.lastname: Schellenberg
authors.forename: C
authors.initials: C
authors.lastname: Tanaka
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D005917:Globus Pallidus; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009410:Nerve Degeneration / Q000235:genetics*; D010375:Pedigree; D011149:Pons; D013378:Substantia Nigra; D016875:tau Proteins / Q000235:genetics*
chemical_list: D016875:tau Proteins