2024-03-29T01:39:01Z
https://niigata-u.repo.nii.ac.jp/oai
oai:niigata-u.repo.nii.ac.jp:00024384
2022-12-15T03:54:31Z
453:456
471:537:538:1239
Clinical and pathological features of dentatorubropallidoluysian atrophy (DRPLA)(Hereditary Spinocerebellar Degeneration : recent advances)
5) 歯状核・赤核・淡蒼球・ルイ体萎縮症(内藤・小柳型)(シンポジウム 遺伝性脊髄小脳変性症 : 最近の知見から, 第417回新潟医学会)
5) 歯状核・赤核・淡蒼球・ルイ体萎縮症(内藤・小柳型)(シンポジウム 遺伝性脊髄小脳変性症 : 最近の知見から, 第417回新潟医学会)
内藤, 明彦
145746
DRPLA
clinico-pathological features
歯状核・赤核・淡蒼球・ルイ萎縮症
An entity of dentatorubropallidoluysian atrophy(DRPLA)are based upon its major neuropathologic findings consisting of combined degeneration of the dentatorubral and pallidoluysian systems. DRPLA can display a variety of symptoms, including myoclonus epilepsy syndrome, cerebellar ataxia, and choreoathetosis or chorea, and is inherited as autosomal dominant traits. Differential diagnosis is discussed. Joseph disease can be differentiated from DRPLA by the following two characteristics; (1)neither epileptic seizures nor dementia, (2)additional, but specific degeneration in the substantia nigra, pontine nucleus, cranial nerve nuclei, and the spinal cord. Mitochondorial encephalomyopathy (MERRF type)also can be distinguished from DRPLA by the following four points; (1)ragged-red-fibers in skeletal muscles, (2)increase of lactic and pyruvic acid level in blood and cerebrospinal fluid, (3)additional degenerative changes in the spinal cord, (4)inheritance pattern only through maternal side.
departmental bulletin paper
新潟医学会
1986-12
application/pdf
新潟医学会雑誌
12
100
733
738
新潟医学会雑誌
AN00182415
00290440
https://niigata-u.repo.nii.ac.jp/record/24384/files/100(12)_733-738.pdf
jpn