Hama Kiwa, Kihira Tameko, Okawa Masae, Kajimoto Yoshinori, Hiwatani Yasuhiro, Morita Shuhei, Nakanishi Ichiro, Miwa Hideto, Kondo Tomoyoshi
Department of Neurology, Wakayama Medical University, 811-1 Kimiidera, Wakayama 641 8510, Japan.
No To Shinkei. 2006 Sep;58(9):779-84.
This investigation was conducted to clarify the frequency and characteristics of ALS associated with extrapyramidal symptoms or signs in Wakayama prefecture. The questionnaires to survey ALS cases were mailed to all medical centers in Wakayama prefecture. A total of 252 cases were found to have motor neuron diseases. Among them, 204 cases fulfilled probable or definite according to El Escorial Criteria. In 10 of them, extrapyramidal signs were identified as follows: rigidity 50%, tremor 40% and akinesia 10%. Family history of ALS in these cases (20%) is higher than expected in usual ALS, and all of them are negative for SOD-1 mutation. Dementia and autonomic nervous symptoms were observed in several cases. Incidence of extrapyramidal signs in ALS resulted in 4.8%. The incidence of extrapyramidal signs is more frequent than expected by chance, suggesting that the degeneration of basal ganglia and/or substantia nigra may not be so rare in ALS.
本次调查旨在明确和歌山县肌萎缩侧索硬化症（ALS）合并锥体外系症状或体征的频率及特征。向和歌山县所有医疗中心邮寄了用于调查ALS病例的问卷。共发现252例患有运动神经元疾病。其中，204例根据埃尔埃斯科里亚尔标准符合“可能”或“确诊”。其中10例出现如下锥体外系体征：肌张力增高50%，震颤40%，运动不能10%。这些病例中ALS的家族史（20%）高于普通ALS的预期，且均为超氧化物歧化酶-1（SOD-1）突变阴性。在几例病例中观察到痴呆和自主神经症状。ALS中锥体外系体征的发生率为4.8%。锥体外系体征的发生率高于偶然预期，提示基底节和/或黑质变性在ALS中可能并非罕见。
