Dentato-rubro-pallido-luysian atrophy: a clinico-pathological study.
Clinical and neuropathological descriptions are given of four cases of an uncommon disease, characterised by simultaneous degeneration of the dentato-rubral and pallido-luysian systems. These four are compared with sixteen previously described cases, and the group as a whole is compared and contrasted with other multisystem degenerations, such as olivo-ponto-cerebellar atrophy and Friedreich's ataxia. A pathological feature described here for the first time is degeneration of the fastigio-vestibular system. Clinically, there are three main types of the disease; (1) an ataxo-choreoathetoid type, (2) a pseudo-Huntington type, and (3) a myoclonic-epileptic type. There are familial cases of types 2 and 3. Oculomotor disturbances, associated with atrophy of the brainstem tegmentum, are observed in cases of types 1 and 3.
D000328:Adult; D001284:Atrophy; D001921:Brain / Q000473:pathology; D002524:Cerebellar Ataxia / Q000473:pathology; D002529:Cerebellar Nuclei / Q000473:pathology*; D002819:Chorea / Q000473:pathology; D003711:Demyelinating Diseases / Q000473:pathology; D005911:Gliosis / Q000473:pathology; D005917:Globus Pallidus / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009410:Nerve Degeneration; D009457:Neuroglia / Q000648:ultrastructure; D009474:Neurons / Q000648:ultrastructure; D009759:Nystagmus, Pathologic / Q000473:pathology; D012012:Red Nucleus / Q000473:pathology*; D013064:Speech Disorders / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology; D013787:Thalamic Nuclei / Q000473:pathology*