title: [A family of spino-cerebellar degeneration with disturbance of ocular movement, choreoathetosis, amyotrophy and dementia--a consideration in clinical features].
abstract: Seven cases in a family of hereditary spino-cerebellar degeneration (SCD) similar to dentatorubro-pallido-Luysian atrophy (DRPLA) were reported. The clinical features of these cases were disturbance of ocular movement (limitation of ocular movement and slow eye movement (SEM], remarkable amyotrophy, choreoathetosis, dementia and sleep apnea. The brain CT's revealed marked atrophy in pons and cerebellum. Amyotrophy had been reported in the case of DRPLA, particular ataxo-choreoathetoid form (by Hirayama). Muscle biopsy was performed in these cases, which showed scattered small angulated fiber, severe atrophic fiber with pyknotic nuclear clump, fiber type grouping and small rounded fiber were mixed. These findings indicates neurogenic change of radiculoneuropathy type (by Tanabe). In many reported cases of DRPLA and SCD with amyotrophy, this type of muscle biopsy had not been recognized. In SCD with amyotrophy, a main lesion had existed on peripheral nerve. In this case, there was no definite clinical findings (sensory disturbance, delay of conduction nerve velocity, peripheral neuropathy in nerve biopsy). In recent years, several unclassified cases of SCD with amyotrophy had been reported, which had multi-system degeneration involving peripheral neuropathy. This case is similar to these cases, which is speculates multi-systemic lesions, not only DRPLA but also peripheral nerve involvement. On neuro-otological study, velocity of saccade was slow and persuit was reserved in proband case. In younger onset case, disturbance of saccade and pursuit was mild. In older progressive case, disturbance of saccade and pursuit was progressive and accompanied with severe limitation of ocular movement. Several autopsy cases of SEM had been reported.(ABSTRACT TRUNCATED AT 250 WORDS)
authors.affiliation: Department of Neurology, Tokyo Metropolitan Neurological Hospital, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Usui
authors.forename: H
authors.initials: H
authors.lastname: Beppu
authors.forename: K
authors.initials: K
authors.lastname: Hirose
authors.forename: H
authors.initials: H
authors.lastname: Tanabe
authors.forename: T
authors.initials: T
authors.lastname: Tsubaki
mesh_terms: D000328:Adult; D001264:Athetosis / Q000150:complications* / Q000503:physiopathology; D002819:Chorea / Q000150:complications* / Q000503:physiopathology; D003704:Dementia / Q000150:complications*; D005133:Eye Movements; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000150:complications* / Q000503:physiopathology; D013132:Spinocerebellar Degenerations / Q000235:genetics* / Q000503:physiopathology