Matsubara Etsuro, Nagata Tetsuya, Kageyama Yasuhiko, Shiote Mito, Namba Reiko, Nagano Isao, Shoji Mikio, Abe Koji
Department of Neurology, Graduate School of Medicine and Dentistry, Okayama University, Okayama, Japan.
Tohoku J Exp Med. 2005 Sep;207(1):81-5. doi: 10.1620/tjem.207.81.
We describe a unique condition affecting two siblings with a form of progressive spinocerebellar ataxia. After a period of very slowly progressive ataxia, the patients developed an extremely accelerated progression of the condition which consisted of cerebellar ataxia, seizure, progressive dementia and spastic tetraparesis. Age of onset was variable at 7 to 18 years. Brain magnetic resonance image (MRI) showed marked atrophy of the cerebellum and cerebrum with strikingly preserved brainstem dimensions. Biochemical or molecular genetic analysis was performed in an elder sister and her parents to exclude known forms of familial spinocerebellar ataxia, dentatorubral-pallidoluysian atrophy (DRPLA), progressive myoclonic epilepsy, and some metabolic disorders which could have a similar phenotype. The mode of inheritance appears to be autosomal recessive. We think that the affected siblings may have a new type of autosomal recessive cerebellar ataxia.
我们描述了一种影响两名患有进行性脊髓小脑共济失调的兄弟姐妹的独特病症。在一段进展极为缓慢的共济失调期后，患者病情进展急剧加速，出现小脑共济失调、癫痫发作、进行性痴呆和痉挛性四肢轻瘫。发病年龄在7至18岁之间不等。脑部磁共振成像（MRI）显示小脑和大脑明显萎缩，而脑干尺寸显著保留。对一名姐姐及其父母进行了生化或分子遗传学分析，以排除已知形式的家族性脊髓小脑共济失调、齿状核红核苍白球路易体萎缩（DRPLA）、进行性肌阵挛癫痫以及一些可能具有相似表型的代谢紊乱。遗传模式似乎为常染色体隐性遗传。我们认为，受影响的兄弟姐妹可能患有一种新型的常染色体隐性小脑共济失调。
