title: A new family with Joseph disease in Japan. Homovanillic acid, magnetic resonance, and sleep apnea studies.
abstract: Four male patients and one female patient of a new family with Joseph disease are reported. Their disease was characterized by autosomal dominant inheritance, bulging eyes, rigidity and spasticity of the lower extremities, dystonia, and bradykinesia. Cerebrospinal fluid homovanillic acid level was markedly reduced. Levodopa improved dystonia. Magnetic resonance imaging revealed mild atrophy of the frontal lobe and the cerebellum and marked atrophy of the lenticular nucleus and the brain stem. Polysomnographic studies revealed non-rapid eye movement stage central type sleep apnea syndrome. This is the first report using magnetic resonance imaging and sleep apnea studies of Joseph disease.
authors.affiliation: Third Department of Internal Medicine, Miyazaki, Japan.
authors.forename: J
authors.initials: J
authors.lastname: Kitamura
authors.forename: Y
authors.initials: Y
authors.lastname: Kubuki
authors.forename: K
authors.initials: K
authors.lastname: Tsuruta
authors.forename: T
authors.initials: T
authors.lastname: Kurihara
authors.forename: S
authors.initials: S
authors.lastname: Matsukura
mesh_terms: D000328:Adult; D004569:Electroencephalography; D004576:Electromyography; D004585:Electrooculography; D005260:Female; D006719:Homovanillic Acid / Q000378:metabolism*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012891:Sleep Apnea Syndromes / Q000150:complications* / Q000503:physiopathology; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism
chemical_list: D006719:Homovanillic Acid