Hirayama K, Takayanagi T, Nakamura R, Yanagisawa N, Hattori T, Kita K, Yanagimoto S, Fujita M, Nagaoka M, Satomura Y
Department of Neurology, Chiba University School of Medicine, Japan.
Acta Neurol Scand Suppl. 1994;153:1-22. doi: 10.1111/j.1600-0404.1994.tb05401.x.
A nationwide survey of patients in Japan with spinocerebellar degenerations (SCD), including SDS and SND, was conducted from 1988 to 1989. The survey consisted of two parts. The first revealed that the estimated total number of patients with SCD in Japan was 5,050 (range: 4,100-6,000) with an estimated prevalence of 4.53 per 100,000 in 1987. The second part investigated the neurological and functional status of patients with SCD. The percentages of those belonging to each subtype of SCD were: OPCA; 34.4%, LCCA; 15.2%, MHCA; 12.6%, HHCA; 7.5%, SDS; 7.0%, HSP; 3.9%, DRPLA; 2.5%, FA; 2.4%, MJD; 2.0% and SND; 1.5%. Compared with European epidemiological studies Japan had a higher proportion of non-hereditary types of SCD. Various clinical features of SCD subtypes were compared grouped by pathological lesion and heredity. HHCA and LCCA: cerebellar ataxia predominated in all stages, and neurological signs other than cerebellar ataxia were rare. MHCA, DRPLA and MJD: in the early phase ataxia was the most common symptom in MHCA, the AC form of DRPLA and MJD, but ataxia was less common and chorea or epilepsy were often observed in ME and PH forms of DRPLA. Other frequently observed clinical features were parkinsonian rigidity in MHCA, abnormal movements and posture in DRPLA and MJD, and disturbances of eye movements in MHCA, the AC form of DRPLA and MJD. OPCA, SDS and SND: dominant clinical features were cerebellar ataxia in OPCA, autonomic disturbance in SDS, and parkinsonian rigidity in SND. FA and HSP: both were rare in Japan. Clinical features related to supra-supinal lesions were frequently observed in FA. Functional status of SCD: the severity of illness was significantly associated with the level of independence in each item of ADL. Activities not requiring dynamic balance were performed independently for a longer period than those requiring dynamic balance. Among SCD subtypes, functional prognosis was poorest in non-hereditary, multi-systemic types (OPCA, SDS and SND) followed by hereditary multi-systemic types (MHCA, DRPLA and MJD), and better in spinal types (FA and HSP) and cerebellar types (HHCA and LCCA).
1988年至1989年，在日本开展了一项针对包括脊髓小脑变性（SCD）（其中包括脊髓小脑共济失调（SDS）和脊髓小脑性共济失调（SND））患者的全国性调查。该调查由两部分组成。第一部分显示，1987年日本SCD患者的估计总数为5050人（范围：4100 - 6000人），估计患病率为每10万人4.53人。第二部分调查了SCD患者的神经和功能状态。SCD各亚型患者的百分比分别为：橄榄桥脑小脑萎缩（OPCA）；34.4%，晚发型小脑皮质萎缩（LCCA）；15.2%，肌阵挛性小脑协调障碍（MHCA）；12.6%，齿状核红核苍白球路易体萎缩（HHCA）；7.5%，脊髓小脑共济失调（SDS）；7.0%，遗传性痉挛性截瘫（HSP）；3.9%，齿状核红核苍白球路易体萎缩（DRPLA）；2.5%，Friedreich共济失调（FA）；2.4%，马查多-约瑟夫病（MJD）；2.0%和脊髓小脑性共济失调（SND）；1.5%。与欧洲的流行病学研究相比，日本非遗传性SCD类型的比例更高。按病理病变和遗传分组比较了SCD各亚型的各种临床特征。HHCA和LCCA：在所有阶段小脑共济失调均占主导，除小脑共济失调外的神经体征罕见。MHCA、DRPLA和MJD：在早期，共济失调是MHCA以及DRPLA和MJD的成人型（AC）最常见的症状，但在DRPLA的少年型（ME）和幼年型（PH）中，共济失调较少见，常观察到舞蹈症或癫痫。其他常见的临床特征包括MHCA中的帕金森样强直、DRPLA和MJD中的异常运动和姿势，以及MHCA、DRPLA的AC型和MJD中的眼球运动障碍。OPCA、SDS和SND：主要临床特征分别为OPCA中的小脑共济失调、SDS中的自主神经功能障碍和SND中的帕金森样强直。FA和HSP：在日本均很罕见。FA中常观察到与上运动神经元病变相关的临床特征。SCD的功能状态：疾病严重程度与日常生活活动（ADL）各项目的独立水平显著相关。不需要动态平衡的活动比需要动态平衡的活动能独立进行更长时间。在SCD各亚型中，非遗传性多系统类型（OPCA、SDS和SND）的功能预后最差，其次是遗传性多系统类型（MHCA、DRPLA和MJD），脊髓类型（FA和HSP）和小脑类型（HHCA和LCCA）的功能预后较好。
