Harding A E
J Neurol Sci. 1981 Aug;51(2):259-71. doi: 10.1016/0022-510x(81)90104-0.
The clinical features of 36 patients with late onset cerebellar ataxia of unknown cause are described. Overall, the age of onset ranged from 30 to 74 years and there was a significant excess of males. The patients were divided into 3 groups on clinical grounds. The first was composed of 12 cases in whom truncal ataxia was more marked than limb ataxia and onset was relatively late (mean 54.75 years); these correspond to the Marie-Foix-Alajouanine type of cerebellar degeneration. The second group contained 6 individuals who had prominent tremor in the upper limbs, both resting and during action. The 18 individuals in the 3rd group were clinically similar to patients previously reported as sporadic examples of olivopontocerebellar atrophy. It was this latter category which contributed to excess of males. None of the patients had similarly affected relatives. Both the 3rd groups, and all 36 cases were compared wih 37 other patients with dominantly inherited late onset cerebellar ataxia in order to establish which clinical features might indicate the presence of new dominant mutations in the "sporadic" cases. Optic atrophy ophthalmoplegia and pigmentary retinal degeneration were more frequent in the familial cases.
本文描述了36例病因不明的迟发性小脑共济失调患者的临床特征。总体而言，发病年龄在30至74岁之间，男性明显多于女性。根据临床症状，患者被分为3组。第一组由12例组成，其躯干共济失调比肢体共济失调更明显，发病相对较晚（平均54.75岁）；这些病例符合Marie-Foix-Alajouanine型小脑变性。第二组有6例，上肢在静息和活动时均有明显震颤。第三组的18例在临床上与先前报道的散发性橄榄体脑桥小脑萎缩患者相似。正是后一组导致了男性患者过多。所有患者均无亲属受类似影响。将第三组以及全部36例患者与另外37例常染色体显性遗传性迟发性小脑共济失调患者进行比较，以确定哪些临床特征可能表明“散发性”病例中存在新的显性突变。视神经萎缩、眼肌麻痹和视网膜色素变性在家族性病例中更为常见。
