title: [Familial pure akinesia].
abstract: We report a 67-year-old man and his family presenting pure akinesia (PA). He developed bradykinesia. A neurological examination showed a lack of facial expression but no tremor or rigidity. His eye movement was full, and he had frozen gait and pulsion symptoms. There was no evidence of dementia. Levodopa therapy was not effective. Magnetic resonance imaging revealed no brainstem and cerebellar atrophy. 99mTc-ECD-SPECT had no further abnormality. His father and brother had similar symptoms as him. We conclude that this family is the first reported example of pure akinesia with autosomal dominant inheritance.
authors.affiliation: Department of Neurology, Okayama University Medical School.
authors.forename: H
authors.initials: H
authors.lastname: Narai
authors.forename: Y
authors.initials: Y
authors.lastname: Manabe
authors.forename: T
authors.initials: T
authors.lastname: Murakami
authors.forename: H
authors.initials: H
authors.lastname: Warita
authors.forename: K
authors.initials: K
authors.lastname: Abe
mesh_terms: D000368:Aged; D001921:Brain / Q000000981:diagnostic imaging; D002560:Cerebrovascular Circulation; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D009069:Movement Disorders / Q000235:genetics* / Q000503:physiopathology; D010300:Parkinson Disease / Q000175:diagnosis; D010375:Pedigree; D011877:Radionuclide Imaging