Tsuchiya K, Ishikawa K, Watabiki S, Tone O, Taki K, Haga C, Takashima M, Ito U, Okeda R, Mizusawa H, Ikeda K
Department of Laboratory Medicine and Pathology, Tokyo Metropolitan Matsuzawa Hospital, Japan.
J Neurol Sci. 1998 Sep 18;160(1):54-9. doi: 10.1016/s0022-510x(98)00189-0.
This report concerns a Japanese family with genetically confirmed SCA 6, including an autopsy case, and a review of Japanese autopsy cases of autosomal dominant cortical cerebellar atrophy (ADCCA). The proband (Case 1) was a Japanese woman. She developed gait disturbance at age 62. The father and younger sister (Case 2) had the same disorder. She died at age 67 due to subarachnoid hemorrhage. Neuropathological examination revealed severe loss of Purkinje cells in the cerebellum, prominently in the dorsal vermis, and absence of neuronal loss in the inferior olives. Molecular genetic study showed the CAG-repeat expansion of SCA 6 gene. The younger sister (Case 2) developed gait disturbance at age 62. Neurological examination at age 66 revealed cerebellar signs without sensory disturbance. Neuroimaging at this time showed cerebellar atrophy, prominently in the vermis. She died of multiple myeloma at age 66. A neuropathological review of Japanese autopsy cases of ADCCA showed that there are two patterns in the distribution of cerebellar cortical lesions of Japanese patients with ADCCA. The distribution of cerebellar cortical lesions in genetically confirmed Japanese patients with SCA 6 is more prominent in the vermis than in the hemisphere.
本报告涉及一个经基因确诊为脊髓小脑共济失调6型（SCA 6）的日本家族，包括1例尸检病例，并对日本常染色体显性遗传性皮质小脑萎缩（ADCCA）的尸检病例进行了回顾。先证者（病例1）是一名日本女性。她在62岁时出现步态障碍。其父亲和妹妹（病例2）也患有同样的疾病。她于67岁时死于蛛网膜下腔出血。神经病理学检查显示，小脑浦肯野细胞严重缺失，主要集中在小脑蚓部背侧，下橄榄核无神经元缺失。分子遗传学研究显示SCA 6基因的CAG重复序列扩张。妹妹（病例2）在62岁时出现步态障碍。66岁时的神经学检查显示有小脑体征但无感觉障碍。此时的神经影像学检查显示小脑萎缩，主要在蚓部。她于66岁时死于多发性骨髓瘤。对日本ADCCA尸检病例的神经病理学回顾显示，日本ADCCA患者小脑皮质病变的分布有两种模式。在经基因确诊的日本SCA 6患者中，小脑皮质病变在蚓部的分布比在半球更为明显。
