title: An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family.
abstract: We detected a missense mutation in the kinase domain of the LRRK2 gene in members with autosomal dominant Parkinson's disease of the Japanese family (the Sagamihara family) who served as the basis for the original defining of the PARK8 Parkinson's disease locus. The results of the Sagamihara family, in combination with the unique pathological features characterized by pure nigral degeneration without Lewy bodies, provided us with valuable information for elucidating the protein structure-pathogenesis relationship for the gene product of LRRK2. We did not detect this mutation or other known mutations of the LRRK2 gene in Japanese patients with sporadic Parkinson's disease.
authors.affiliation: Division of Clinical Immunology, Kitasato University Graduate School of Medical Sciences, Tokyo, Japan.
authors.forename: Manabu
authors.initials: M
authors.lastname: Funayama
authors.forename: Kazuko
authors.initials: K
authors.lastname: Hasegawa
authors.forename: Etsuro
authors.initials: E
authors.lastname: Ohta
authors.forename: Noriko
authors.initials: N
authors.lastname: Kawashima
authors.forename: Masaru
authors.initials: M
authors.lastname: Komiyama
authors.forename: Hisayuki
authors.initials: H
authors.lastname: Kowa
authors.forename: Shoji
authors.initials: S
authors.lastname: Tsuji
authors.forename: Fumiya
authors.initials: F
authors.lastname: Obata
mesh_terms: D000595:Amino Acid Sequence; D005192:Family Health; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010300:Parkinson Disease / Q000235:genetics*; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases