Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies) - Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies) - Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families
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DOI：
10.1093/brain/118.6.1573
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发表时间：
1995-12-01
期刊：
影响因子：
14.5
通讯作者：
Vernant, JC
中科院分区：
文献类型：
--
作者：
Durr, A;Smadja, D;Vernant, JC
在马提尼克岛（法属西印度群岛）的3个无亲缘关系的家族中诊断出常染色体显性小脑性共济失调I型，并与远脊髓小脑性共济失调2 （SCA2）位点建立了连锁关系。在31名接受检查的患者中，68%的小脑性共济失调与反射减退有关，65%的患者伴有眼动减慢和/或受限，65%的患者伴有痴呆。29%。无患者出现视神经萎缩、视网膜色素变性、痉挛或帕金森症。平均发病年龄为33+/-16岁，20岁前发病与病情进展迅速和严重相关。运动障碍、动眼肌障碍、括约肌障碍和认知障碍在早发患者中的发生率明显高于晚发患者。这就解释了为什么在一个平均发病年龄要早得多的家庭中，这种表型明显不同。与先前描述的SCA2家族比较发现了相似之处，如眼跳速度降低，核上眼麻痹和反射减少，尽管表型异质性仍然是该疾病的突出特征。
Autosomal dominant cerebellar ataxia type I was diagnosed in three unrelated families from Martinique (French West Indies), and linkage to the locus far spinocerebellar ataxia 2 (SCA2) was established Neuropathological findings in two patients were those of olivopontocerebellar atrophy without oligodendroglial cytoplasmic inclusions. Cerebellar ataxia was associated with hyporeflexia in 68% of 31 examined patients, with slowed and/or limited eye movements in 65% and with dementia in. 29%. No patients had optic atrophy, pigmentary retinal degeneration, spasticity or parkinsonism. Mean age at onset was 33+/-16 years, and onset before the age of 20 years was correlated with a move rapid and severe course of the disease. Movement disorders, oculomotor disturbances, sphincter disturbances and cognitive impairment were significantly more frequent in early than in late onset patients. This explains why the phenotype was strikingly different in one family, in which mean age at onset was much earlier. Comparison with previously described SCA2 families indicated similarities, such as reduced saccade velocity, supranuclear ophthalmoplegia and decreased reflexes, although phenotypic heterogeneity remains the outstanding feature of this disorder.