Konagaya Masaaki, Sakai Motoko, Kato Takashi, Kuru Satoshi, Matsuoka Yukihiko, Sobue Gen, Hashizume Yoshio, Yoshida Mari
Department of Neurology, Suzuka National Hospital, 3-2-1 Kasado, Suzuka, Mie 513-8501, Japan.
No To Shinkei. 2002 Jun;54(6):513-20.
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.
本文报道了一例经基因诊断的齿状核-红核-苍白球-路易体萎缩（DRPLA）病例的非典型病理表现，该病例在疾病常见病变部位存在轻度变性。患者为一名59岁女性，有31年的不自主运动、共济失调和精神障碍病史。其DRPLA基因的CAG重复数为68/14。除枕叶皮质第三和第四层海绵状变性外，还观察到小脑皮质和白质、下橄榄核、延髓后索核、脊髓后索和外侧索以及克拉克核严重变性。细胞内多聚谷氨酰胺聚集广泛分布，包括常见和不常见病变部位。基因诊断显示这是一例病变与传统病例不同的DRPLA病例。
