title: Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging.
abstract: We report on a 50-year-old woman who presented with an 8-year history of involuntary movements, unsteadiness, and cognitive decline. Examination revealed multidomain cognitive deficits, jerky ocular pursuit movements, hypometric saccades, gaze impersistence, dysarthria, upper limb dystonia, and widespread chorea. TATA-binding protein gene test revealed trinucleotide expansion allele sizes of 47 and 39 repeats, confirming the diagnosis of spinocerebellar ataxia type 17 (SCA-17). Magnetic resonance imaging (MRI) showed marked cerebellar atrophy and putaminal rim hyperintensity. This is the first case of SCA-17 reported to show MRI signal change in the basal ganglia, and extends the phenotypic manifestation of SCA-17.
authors.affiliation: National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.
authors.forename: Clement T
authors.initials: CT
authors.lastname: Loy
authors.forename: Mary G
authors.initials: MG
authors.lastname: Sweeney
authors.forename: Mary B
authors.initials: MB
authors.lastname: Davis
authors.forename: Adrian J
authors.initials: AJ
authors.lastname: Wills
authors.forename: Guy V
authors.initials: GV
authors.lastname: Sawle
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Lees
authors.forename: Sarah J
authors.initials: SJ
authors.lastname: Tabrizi
mesh_terms: D003072:Cognition Disorders / Q000209:etiology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D010641:Phenotype; D011699:Putamen / Q000473:pathology*; D020754:Spinocerebellar Ataxias / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D035181:TATA-Box Binding Protein / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
chemical_list: D035181:TATA-Box Binding Protein