title: The first Japanese familial case of spinocerebellar ataxia 23 with a novel mutation in the PDYN gene.
authors.affiliation: Department of Neurology, Kinki University Faculty of Medicine, Japan. Electronic address: saigoh@k.email.ne.jp.
authors.forename: Kazumasa
authors.initials: K
authors.lastname: Saigoh
authors.affiliation: Department of Neurology, University of Tokyo, Graduate School of Medicine, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Mitsui
authors.affiliation: Department of Neurology, Kinki University Faculty of Medicines, Japan.
authors.forename: Makito
authors.initials: M
authors.lastname: Hirano
authors.affiliation: Department of Neurology, Kinki University Faculty of Medicines, Japan.
authors.forename: Mitsuaki
authors.initials: M
authors.lastname: Shioyama
authors.affiliation: Department of Neurology, Kinki University Faculty of Medicines, Japan.
authors.forename: Makoto
authors.initials: M
authors.lastname: Samukawa
authors.affiliation: Department of Neurology, University of Tokyo, Graduate School of Medicine, Japan.
authors.forename: Yaeko
authors.initials: Y
authors.lastname: Ichikawa
authors.affiliation: Department of Neurology, University of Tokyo, Graduate School of Medicine, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Goto
authors.affiliation: Department of Neurology, University of Tokyo, Graduate School of Medicine, Japan.
authors.forename: Shoji
authors.initials: S
authors.lastname: Tsuji
authors.affiliation: Department of Neurology, Kinki University Faculty of Medicine, Japan. Electronic address: kusunoki-tky@umin.ac.jp.
authors.forename: Susumu
authors.initials: S
authors.lastname: Kusunoki
mesh_terms: D017668:Age of Onset; D001933:Brain Stem / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D004745:Enkephalins / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D007564:Japan; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011498:Protein Precursors / Q000235:genetics*; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics*
chemical_list: D004745:Enkephalins; D011498:Protein Precursors; C033660:preproenkephalin
keywords: Head tremor; Hot cross bun (HCB) sign; Multiple system atrophy, Prodynorphin (PDYN); Parkinsonism; Spinocerebellar ataxia 23