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常染色体優性遺伝性の歯状核赤核淡蒼球ルイ体萎縮症と考えられる8例(うち1例は剖検例)を用い,その大脳白質病変の成因を考察するため,ischemic scoreを含む臨床因子の評価,CT,MRI,T2強調画像,perfusion study,SPECT,脳波,および病理組織学的検討を行った。剖検例を含む3例に画像上大脳白質病変を認めた。病変の有無と上記諸因子間には明らかな相関はなかったが,病変の有無にかかわらずMRI per—fusion studyに異常所見を認めた。また,大脳白質病変は血管性病変による虚血が成因とは考え難く,疾患自体に関連する可能性が高いと考えられた。
Clinical, radiological, and histological examina-tions were performed on eight patients with autosomal-dominant dentato-rubro-pallido-luysian atrophy (DRPLA) including an autopsy case, to investigate the abnormal findings of the cerebral white matter in DRPLA. Three of the eight patients were found to have diffuse low density on CT or diffuse high-signal areas on T2-MRI in the white matter of the brain. There were no correlations between abnormal findings in the white matter and the following factors; age of onset, duration of the disease, clinical manifestations, disease severity, Hachinski score, or EEG abnormality.
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