Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations.
Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations.
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DOI：
10.1002/mds.22365
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发表时间：
2009-04-15
影响因子：
8.6
通讯作者：
Cardoso, Francisco
中科院分区：
文献类型：
--
作者：
Camargos, Sarah Teixeira;Dornas, Leonardo Oliveira;Momeni, Parastoo;Lees, Andrew;Hardy, John;Singleton, Andrew;Cardoso, Francisco
该研究的目的是评估巴西运动障碍单位家族性帕金森病和早发性帕金森病（EOPD）的频率并进行表型和基因型表征。我们对患者进行了标准化的临床评估，随后进行了PRKN、PINK1、SNCA和LRRK2的测序。在研究期间（2006年1月至12月），我们连续检查了575例患者，其中226例（39.3%）符合帕金森病的诊断，其中202例诊断为特发性帕金森病（IPD）。在IPD病例中，45例（22.3%）有EOPD。45例EOPD患者的发病年龄为34.8±5.4岁（平均±标准差）。家族性迟发性PD患者（n=8）的发病年龄为52.3±12.2岁。在早发病例中，我们鉴定出5个已知的PRKN突变，2个单杂合突变和3个复合杂合突变（P153R、T240M、255Adel、W54R、V3I）；此外，我们还在PINK1中发现了一个新的突变（外显子7的纯合缺失）。在家族性病例（晚发）中，一名患者有一种新的LRRK2变体Q923H，但未发现SNCA突变。我们已经证明，在我们的三级转诊中心，EOPD占IPD病例的高频。PRKN是最常见的突变基因，但我们也在PINK1中发现了一个新的突变，在LRRK2中发现了一个新的变异。
The aim of the study was to evaluate the frequency and to perform phenotypic and genotypic characterization of familial Parkinsonism and early onset Parkinson's disease (EOPD) in a Brazilian movement disorder unit. We performed a standardized clinical assessment of patients followed by sequencing of PRKN, PINK1, SNCA and LRRK2. During the period of study (January through December, 2006) we examined 575 consecutive patients of whom 226 (39.3%) met the diagnosis of Parkinsonism and idiopathic Parkinson's disease (IPD) was diagnosed in 202 of the latter. Of the IPD cases, 45 (22.3%) had EOPD. The age at onset in the EOPD cases (n=45) was 34.8±5.4 years (mean ±standard deviation). The age at onset in familial the late-onset PD patients (n=8) was 52.3±12.2 years. In the early-onset cases, we identified five known mutations in PRKN, two single heterozygous and three compound heterozygous (P153R, T240M, 255Adel, W54R, V3I); in addition we identified one novel mutation in PINK1 (homozygous deletion of exon 7). In the familial cases (late onset), one patient had a novel LRRK2 variant, Q923H, but no SNCA mutations were identified. We have demonstrated that EOPD accounts for a high frequency of IPD cases in our tertiary referral center. PRKN was the most commonly mutated gene but we also identified a novel mutation in PINK1 and a novel variant in LRRK2.
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影响因子：
11.2
作者：
Hilker, R;Klein, C;Pramstaller, PP
通讯作者：
Pramstaller, PP
影响因子：
1.4
作者：
Cardoso, F;Camargos, ST;Silva, GA
通讯作者：
Silva, GA
影响因子：
3.5
作者：
Hedrich, K;Kann, M;Klein, C
通讯作者：
Klein, C
影响因子：
56.9
作者：
Bonifati, V;Rizzu, P;Heutink, P
通讯作者：
Heutink, P
影响因子：
9.9
作者：
Bower, JH;Maraganore, DM;Rocca, WA
通讯作者：
Rocca, WA