title: [A case of spinocerebellar ataxia type 6 with hypochondriasis and severe parkinsonism].
abstract: We report a case of 68-year-old woman who was diagnosed spinocerebellar ataxia type 6 (SCA 6) by genomic testing. She presented hypochondriasis, parkinsonism, and ataxia. Since the age of 60, she noted difficulty in walking due to dizziness, and MRI showed minimal cerebellar atrophy. She became unable to walk without assistance at the age 67. She was referred to us when she was 68 years old. She had no family history of cerebellar ataxia, and her general physical examination was normal. Her speech was fluent, with neither slurring nor scanning, and she complained of much anxiety regarding her physical condition and was diagnosed as having hypochondriasis. Neurological examination revealed parkinsonism consisting of small steppage gait, mask-like face, akinesia, rigidity of neck and limbs, and postural instability. She also showed cerebellar signs such as saccadic smooth pursuit, ataxia of upper and lower limbs, and increased tendon reflexes. Her parkinsonism had developed slowly and symmetrically yet she showed a lack of response to levodopa. Our results suggest that the genomic testing is useful for differential diagnosis for the diseases presenting ataxia and parkinsonism, even if the family history is negative.
authors.affiliation: Department of Neurology, Kochi Municipal Central Hospital, 2-7-33 Sakurai-cho, Kochi 780-0821, Japan.
authors.forename: I
authors.initials: I
authors.lastname: Kohira
authors.forename: H
authors.initials: H
authors.lastname: Ujike
authors.forename: T
authors.initials: T
authors.lastname: Katsu
authors.forename: Y
authors.initials: Y
authors.lastname: Ninomiya
authors.forename: K
authors.initials: K
authors.lastname: Ohashi
mesh_terms: D000368:Aged; D001921:Brain / Q000473:pathology; D015220:Calcium Channels / Q000235:genetics*; D005260:Female; D006801:Humans; D006998:Hypochondriasis / Q000150:complications*; D008279:Magnetic Resonance Imaging; D010300:Parkinson Disease / Q000150:complications*; D020754:Spinocerebellar Ataxias / Q000175:diagnosis* / Q000235:genetics; D020864:Calcium Channels, N-Type
chemical_list: D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type