title: [SCA6 presenting parkinsonism without ataxia--A case report].
abstract: A 57-year-old man was admitted to our hospital because of bradykinesia. He was diagnosed with Parkinson disease (Hoehn and Yahr grade 2) and administered levodopa at the maximum dose of 800 mg. However, his condition did not improve. While his symptoms were responsive to levodopa therapy, the sensitivity to the drug was poor. Brain MRI revealed atrophy of the upper vermis and cerebral hemispheres, and brain SPECT revealed low perfusion in both parietal lobes. I(123)-metaiodobenzylguanidine scintigraphy showed a decrease in the heart/mediastinum ratio. Striatal dopamine transporter (DAT) density was evaluated using I(123)-FP-CIT. The patient showed moderately reduced DAT density, which suggested nigrostriatal dopaminergic damage. His mother was found to have pure cerebellar ataxia without parkinsonism, and her two siblings also had celebellar type of multiple system atrophy (MSA-C) and progressive supranuclear palsy, respectively. Genetic testing revealed that the patient, his mother and the uncle with MSA-C had spinocerebellar ataxia type 6 (SCA6). SCA6 presenting parkinsonism without ataxia is very rare and important for the pathomechanism of disease.
authors.affiliation: Department of Neurology, Brain Attack Center Ota Memorial Hospital.
authors.forename: Shinichi
authors.initials: S
authors.lastname: Takeshima
authors.forename: Ikuko
authors.initials: I
authors.lastname: Takeda
authors.forename: Keitaro
authors.initials: K
authors.lastname: Kobatake
authors.forename: Toru
authors.initials: T
authors.lastname: Yamashita
authors.forename: Koji
authors.initials: K
authors.lastname: Abe
authors.forename: Masaru
authors.initials: M
authors.lastname: Kuriyama
mesh_terms: D001284:Atrophy; D001921:Brain / Q000473:pathology; D003937:Diagnosis, Differential; D050483:Dopamine Plasma Membrane Transport Proteins / Q000032:analysis; D059290:Dopaminergic Neurons / Q000473:pathology; D005820:Genetic Testing; D006321:Heart / Q000000981:diagnostic imaging; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010296:Parietal Lobe / Q000098:blood supply; D020734:Parkinsonian Disorders / Q000209:etiology*; D010375:Pedigree; D020754:Spinocerebellar Ataxias / Q000150:complications / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D015899:Tomography, Emission-Computed, Single-Photon
chemical_list: D050483:Dopamine Plasma Membrane Transport Proteins