Maruyama H, Kawakami H, Kohriyama T, Sakai T, Doyu M, Sobue G, Seto M, Tsujihata M, Oh-i T, Nishio T, Sunohara N, Takahashi R, Ohtake T, Hayashi M, Nishimura M, Saida T, Abe K, Itoyama Y, Matsumoto H, Nakamura S
Third Department of Internal Medicine, Hiroshima University School of Medicine, Kasumi, Japan.
J Neurol Sci. 1997 Nov 25;152(2):166-71. doi: 10.1016/s0022-510x(97)00155-x.
To evaluate the clinical characteristics of Machado-Joseph disease (MJD) with reference to CAG repeat length and disease duration, we analyzed neurologic findings in 108 patients from 84 families. The majority of MJD patients presented with an ataxic gait as the initial symptom. Dysarthria and nystagmus were observed from an early stage. Bulging eyes, muscle atrophy and bradykinesia developed later. Patients with a shorter CAG repeat length or later onset had more frequent involvement of proprioceptive sensory deficit. Incidence of abnormal reflexes, tones, and proprioceptive sensation was not associated with disease duration, but with CAG repeat length. Based on these results, we propose a new clinical classification: type A (juvenile type), with hyperreflexia and dystonia, but without a proprioceptive sensory deficit; type C (adult type), with hyporeflexia and a proprioceptive sensory deficit, but without dystonia; and type B (intermediate type), the remaining patients with a mixed presentation.
为了参照CAG重复序列长度和病程评估马查多-约瑟夫病（MJD）的临床特征，我们分析了来自84个家庭的108例患者的神经学表现。大多数MJD患者以共济失调步态作为初始症状。构音障碍和眼球震颤在疾病早期即可观察到。突眼、肌肉萎缩和运动迟缓在疾病后期出现。CAG重复序列长度较短或发病较晚的患者本体感觉障碍更为常见。异常反射、肌张力和本体感觉的发生率与病程无关，而与CAG重复序列长度有关。基于这些结果，我们提出了一种新的临床分类：A型（青少年型），有反射亢进和肌张力障碍，但无本体感觉障碍；C型（成人型），有反射减弱和本体感觉障碍，但无肌张力障碍；B型（中间型），其余患者表现为混合型。
