title: Spinocerebellar ataxia type 6: MRI of three Japanese patients.
abstract: We describe the MRI findings in three Japanese patients with spinocerebellar ataxia type 6 (SCA6) in which a polymorphic CAG repeat was identified in the gene encoding the alpha 1A voltage-dependent P/Q-type Ca2+ channel subunit (CACNL1A4). All showed slowly progressive cerebellar ataxia and mild pyramidal signs. Neuroradiologically, they had moderate cerebellar atrophy, most prominently in the superior vermis, whereas the brain stem appeared to be spared. No abnormal signal intensity was identified.
authors.affiliation: Department of Internal Medicine, Saga Medical School, Japan. satoj1@smsnet.saga-med.ac.jp
authors.forename: J I
authors.initials: JI
authors.lastname: Satoh
authors.forename: H
authors.initials: H
authors.lastname: Tokumoto
authors.forename: M
authors.initials: M
authors.lastname: Yukitake
authors.forename: M
authors.initials: M
authors.lastname: Matsui
authors.forename: Z
authors.initials: Z
authors.lastname: Matsuyama
authors.forename: H
authors.initials: H
authors.lastname: Kawakami
authors.forename: S
authors.initials: S
authors.lastname: Nakamura
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroda
mesh_terms: D000328:Adult; D000368:Aged; D001284:Atrophy; D001933:Brain Stem / Q000473:pathology; D015220:Calcium Channels / Q000235:genetics; D002525:Cerebellar Cortex / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D015870:Gene Expression / Q000502:physiology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009460:Neurologic Examination; D012150:Polymorphism, Restriction Fragment Length; D013132:Spinocerebellar Degenerations / Q000175:diagnosis* / Q000235:genetics; D018911:Trinucleotide Repeats / Q000235:genetics
chemical_list: D015220:Calcium Channels; C093712:Cacna1d protein, rat