title: [An autopsied case of dentato-rubro-pallido-luysian atrophy with atypical pathological lesions].
abstract: In this paper, atypical pathological findings in a genetic diagnosed case of dentato-rubro-pallido-luysian atrophy (DRPLA) with mild degeneration in the common lesions of the disease is reported. The patient was 59-year-old woman with 31-year history of involuntary movement, ataxia and psychiatric disorders. Her CAG repeat number of DRPLA gene was 68/14. Besides the spongy degeneration in the third and fourth layers of the occipital cortex, severe degenerations were observed in the cerebellar cortex and white matter, inferior olive, posterior funicular nuclei of the medulla oblongata, posterior and lateral funicles of the spinal cord, and Clarke's nucleus. A wide spread distribution of the intracellular polyglutamine aggregation was also showed including both common and uncommon lesions. Genetic diagnosis disclosed a DRPLA case with lesions different from the conventional cases.
authors.affiliation: Department of Neurology, Suzuka National Hospital, 3-2-1 Kasado, Suzuka, Mie 513-8501, Japan.
authors.forename: Masaaki
authors.initials: M
authors.lastname: Konagaya
authors.forename: Motoko
authors.initials: M
authors.lastname: Sakai
authors.forename: Takashi
authors.initials: T
authors.lastname: Kato
authors.forename: Satoshi
authors.initials: S
authors.lastname: Kuru
authors.forename: Yukihiko
authors.initials: Y
authors.lastname: Matsuoka
authors.forename: Gen
authors.initials: G
authors.lastname: Sobue
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Hashizume
authors.forename: Mari
authors.initials: M
authors.lastname: Yoshida
mesh_terms: D001921:Brain / Q000473:pathology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D020191:Myoclonic Epilepsies, Progressive / Q000235:genetics / Q000473:pathology*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D013132:Spinocerebellar Degenerations / Q000473:pathology
chemical_list: D009419:Nerve Tissue Proteins; C095278:atrophin-1