VPS35 Parkinson's disease phenotype resembles the sporadic disease
VPS35 Parkinson's disease phenotype resembles the sporadic disease
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DOI：
10.1007/s00702-014-1179-1
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发表时间：
2014-07-01
影响因子：
3.3
通讯作者：
Ransmayr, Gerhard
中科院分区：
文献类型：
--
作者：
Struhal, Walter;Presslauer, Stefan;Ransmayr, Gerhard
最近在VPS35基因中发现了一个新的常染色体显性帕金森病突变（p.Asp620Asn）。我们对来自三个奥地利家族的14例携带这种突变的PD患者的临床特征进行了评价。与散发性PD患者相比，奥地利患者的发病年龄似乎较低，抑郁症更常见。然而，我们无法确定VPS35患者的特定临床标志物，这些患者在其他方面类似于散发性PD患者。
Recently a new autosomal dominant Parkinson's disease mutation (p.Asp620Asn) in the VPS35 gene was discovered. The clinical features of 14 PD patients with this mutation from three Austrian families were evaluated. Age at disease-onset appears lower and depression was more common in Austrian patients compared to sporadic PD patients. However, we were unable to identify a specific clinical maker of VPS35 patients, who otherwise resemble sporadic PD patients.