Parkinsonism is a Late, Not Rare, Feature of CADASIL A Study on Italian Patients Carrying the R1006C Mutation
Parkinsonism is a Late, Not Rare, Feature of CADASIL A Study on Italian Patients Carrying the R1006C Mutation
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DOI：
10.1161/strokeaha.111.000458
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发表时间：
2013-04-01
期刊：
影响因子：
8.3
通讯作者：
De Michele, Giuseppe
中科院分区：
文献类型：
--
作者：
Ragno, Michele;Berbellini, Alfonso;De Michele, Giuseppe
背景和目的-描述帕金森综合征的临床表现为常染色体显性遗传性脑动脉病与皮质下梗死和leukoencephalopathy. Methods-我们报告5例携带R1006 C突变的NOTCH 3基因外显子19。所有病例均表现为迟发性、缓慢进行性帕金森综合征，对左旋多巴无反应。我们对所有患者和另外3名携带相同突变但无帕金森综合征的患者进行了脑MRI和123 I-FP-CIT SPECT检查。4例帕金森综合征患者进行心肌123 I-间碘苄胍benzoguanidine endometigraphy.Results-In所有患者，脑MRI显示广泛的缺血性病变在脑室周围的白色物质，内部和外部的胶囊，基底节，丘脑。123 I-FP-CIT SPECT显示壳核中示踪剂摄取对称或不对称减少，伴有不恒定的尾状核受累。心肌123 I-间碘苄胍造影结果正常。黑质纹状体去神经支配也表现在2例没有parkinsonis. Conclusions，在大脑常染色体显性遗传性动脉病皮质下梗死和白质脑病，帕金森症可能是一个不罕见的，迟发性表现。临床表现、多巴胺能治疗无效和MRI结果提示血管性帕金森综合征，可能在此之前有一个延长的症状前期。（中风。2013;44：1147-1149）。
Background and Purpose-To describe parkinsonism as a clinical manifestation of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.Methods-We report 5 patients carrying the R1006C mutation in the exon 19 of NOTCH3 gene. All cases presented late onset, slowly progressive parkinsonism, not responsive to l-dopa. We performed brain MRI and 123I-FP-CIT SPECT in all and in 3 additional patients carrying the same mutation but without parkinsonism. Four patients with parkinsonism underwent myocardial 123I-meta-iodobenzylguanidine scintigraphy.Results-In all patients, brain MRI showed widespread ischemic lesions in the periventricular white matter, the internal and external capsules, the basal ganglia, and thalami. 123I-FP-CIT SPECT showed symmetrical or asymmetrical reduction of tracer uptake in the putamen, with inconstant caudate involvement. Myocardial 123I-meta-iodobenzylguanidine scintigraphy resulted normal. Nigrostriatal denervation was also demonstrated in 2 patients without parkinsonism.Conclusions-In cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, parkinsonism may be a not rare, late onset manifestation. The clinical picture, the lack of response to dopaminergic treatment, and MRI findings suggest a vascular parkinsonism, which may be preceded by a protracted presymptomatic phase. (Stroke. 2013;44:1147-1149.)