A new family with Joseph disease in Japan. Homovanillic acid, magnetic resonance, and sleep apnea studies
J. Kitamura, Y. Kubuki, K. Tsuruta, T. Kurihara and S. Matsukura
Third Department of Internal Medicine, Miyazaki, Japan.
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.
