Tremor dominant parkinsonism:: Clinical description and LRRK2 mutation screening
Tremor dominant parkinsonism:: Clinical description and LRRK2 mutation screening
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DOI：
10.1002/mds.21771
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发表时间：
2008-03-15
影响因子：
8.6
通讯作者：
Kulisevsky, Jaime
中科院分区：
文献类型：
--
作者：
Clarimon, Jordi;Pagonabarraga, Javier;Kulisevsky, Jaime
震颤显性帕金森综合征（TDP）的特征是初始显著的静止和动作震颤、轻度帕金森综合征、对药物的不可预测的反应以及比特发性帕金森病（PD）更好的预后。我们报告26例患者的临床特点和纵向过程中的痛苦！从TDP。平均病程为6.5 +/- 3年，61.5%的患者有震颤阳性家族史，73%的患者不需要药物治疗，123 I-Ioflupane SPECT显示65.4%的患者纹状体示踪剂摄取减少，所有受试患者（n = 22）的气味识别试验均为病理性。同时出现的行动和测试震颤是所有患者中最恼人和致残的症状，而僵硬和/或运动迟缓在大多数患者中与临床无关。我们还对所有患者的富含亮氨酸重复序列激酶2基因（LRRK 2）的完整编码区进行了测序。我们发现了一个新的Val 2390 Met突变，在864条染色体上没有发现。我们的研究结果表明，LRRK 2突变相关的更广泛的临床异质性，并指向TDP作为PD谱内的一种亚型，其中致残性震颤但其他轻度帕金森病体征和更好的预后是主要特征。(C)2007年，《社会运动》创刊。
Tremor dominant parkinsonism (TDP) is characterized by initial prominent resting and action tremor, mild parkinsonism, unpredictable response to medication, and a better prognosis than idiopathic Parkinson's disease (PD). We report on clinical features and longitudinal course of 26 patients suffering! from TDP. Mean disease duration was 6.5 +/- 3 years, 61.5% of patients had a positive family history of tremor, 73% did not need drug treatment, performance of 123I-Ioflupane SPECT showed reduced striatal tracer uptake in 65.4% of patients, and odor identification testing was pathologic in all the patients tested (n = 22). Co-occurrence of action and testing tremor were the most annoying and disabling symptoms in all the patients, whereas rigidity and/or bradykinesia were clinically irrelevant in most of them. We also sequenced the full coding region of the Leucine-rich repeat kinase 2 gene (LRRK2) in all patients. We found a novel Val2390Met mutation that was not found in 864 chromosomes. Our results suggest a broader clinical heterogeneity related to LRRK2 mutations and points towards TDP as a subtype within the spectrum of PD, in which disabling tremor but otherwise mild parkinsonian signs and a better prognosis are the main characteristics. (C) 2007 Movement Disorder Society.