title: Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings With Autosomal Recessive Spinocerebellar Ataxia Type 16.
authors.affiliation: Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
authors.forename: Toshitaka
authors.initials: T
authors.lastname: Kawarai
authors.affiliation: Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
authors.forename: Ryosuke
authors.initials: R
authors.lastname: Miyamoto
authors.affiliation: Department of Neurology, Tokushima Prefectural Central Hospital, Tokushima, Japan.
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Shimatani
authors.affiliation: Laboratorio di Neurogenetica, CERC-IRCCS Santa Lucia, Rome, Italy4Dipartimento di Scienze Chirurgiche e Biomediche, Università di Perugia, Perugia, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Orlacchio
authors.affiliation: Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
authors.forename: Ryuji
authors.initials: R
authors.lastname: Kaji
mesh_terms: D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging*; D004421:Dystonia / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009207:Myoclonus / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D035781:Siblings; D020754:Spinocerebellar Ataxias / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D015899:Tomography, Emission-Computed, Single-Photon; D044767:Ubiquitin-Protein Ligases / Q000235:genetics
chemical_list: C467728:STUB1 protein, human; D044767:Ubiquitin-Protein Ligases