title: Co-existence of spastic paraplegia-30 with novel KIF1A mutation and spinocerebellar ataxia 31 with intronic expansion of BEAN and TK2 in a family.
authors.affiliation: Department of Neurology, Nishi-Niigata Chuo National Hospital, 1-14-1 Masago, Nishi-ku, Niigata 950-2085, Japan. Electronic address: arika-ha@masa.go.jp.
authors.forename: Arika
authors.initials: A
authors.lastname: Hasegawa
authors.affiliation: Department of Neurology, Nishi-Niigata Chuo National Hospital, 1-14-1 Masago, Nishi-ku, Niigata 950-2085, Japan.
authors.forename: Ryoko
authors.initials: R
authors.lastname: Koike
authors.affiliation: Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, 1110 Shimokato, Chuo-Shi, Yamanashi 409-3898, Japan.
authors.forename: Kishin
authors.initials: K
authors.lastname: Koh
authors.affiliation: Department of Neurology, Kaetsu Hospital, 1459-1 Higashikanazawa, Akiha-ku, Niigata 956-0814, Japan.
authors.forename: Akio
authors.initials: A
authors.lastname: Kawakami
authors.affiliation: Department of Molecular Genetics, Bioresource Science Branch, Center for Bioresources, Brain Research Institute, Niigata University, 1-757 Asahimachidori, Chuo-ku, Niigata 951-8585, Japan.
authors.forename: Norikazu
authors.initials: N
authors.lastname: Hara
authors.affiliation: Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, 1110 Shimokato, Chuo-Shi, Yamanashi 409-3898, Japan.
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Takiyama
authors.affiliation: Department of Molecular Genetics, Bioresource Science Branch, Center for Bioresources, Brain Research Institute, Niigata University, 1-757 Asahimachidori, Chuo-ku, Niigata 951-8585, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Ikeuchi
mesh_terms: D005190:Family; D006801:Humans; D007438:Introns; D016547:Kinesins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D013937:Thymidine Kinase / Q000235:genetics*
chemical_list: C094065:KIF1A protein, human; C105339:thymidine kinase 2; D013937:Thymidine Kinase; D016547:Kinesins
keywords: KIF1A; SCA31; SPG30; Spastic paraplegia; Spinocerebellar ataxia