Thaler Avner, Gurevich Tanya, Bar Shira Anat, Gana Weisz Mali, Ash Elissa, Shiner Tamara, Orr-Urtreger Avi, Giladi Nir, Mirelman Anat
Movement Disorders Unit, Neurological Institute, Tel-Aviv Sourasky Medical Center, Israel; Sackler School of Medicine, Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
Movement Disorders Unit, Neurological Institute, Tel-Aviv Sourasky Medical Center, Israel; Sackler School of Medicine, Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
Parkinsonism Relat Disord. 2017 Mar;36:47-51. doi: 10.1016/j.parkreldis.2016.12.014. Epub 2016 Dec 16.
Mutations in the GBA gene are associated with Parkinson's disease (PD). A definite description of the clinical characteristics of PD patients who are compound heterozygotes or homozygotes for mutations in the GBA gene (GD-PD) requires further elucidation.
We assessed motor, cognitive, olfactory and autonomic functions as well as demographic data and medical history in a cohort of Ashkenazi Jewish PD patients who were screened for seven common mutations in the GBA gene. We then compared three groups of patients (matched for age and disease duration) who were distinguished by their GBA mutation status, idiopathic PD (iPD), GBA heterozygote PD (GBA-PD) and GD-PD.
Out of a total of 1050 AJ PD patients screened, 12 were found to be either homozygotes or compound heterozygotes for mutations in the GBA gene. These patients had an earlier age of onset, more severe motor impairment, poorer cognition and lower olfactory scores. They also had a higher prevalence of REM sleep behavior disorder and higher frequencies of hallucinations compared to both GBA-PD and iPD.
The severity of PD phenotype is related to the burden of GBA mutations with GD-PD patients manifesting a more severe phenotype.
GBA基因突变与帕金森病（PD）相关。对于GBA基因（GD-PD）突变的复合杂合子或纯合子的PD患者的临床特征进行确切描述需要进一步阐明。
我们评估了一组接受GBA基因七种常见突变筛查的阿什肯纳兹犹太PD患者的运动、认知、嗅觉和自主神经功能以及人口统计学数据和病史。然后我们比较了三组（按年龄和病程匹配）根据其GBA突变状态区分的患者，即特发性PD（iPD）、GBA杂合子PD（GBA-PD）和GD-PD。
在总共1050名接受筛查的AJ PD患者中，发现12名是GBA基因突变的纯合子或复合杂合子。这些患者发病年龄更早，运动障碍更严重，认知能力更差，嗅觉评分更低。与GBA-PD和iPD相比，他们快速眼动睡眠行为障碍的患病率也更高，幻觉频率更高。
PD表型的严重程度与GBA突变的负担相关，GD-PD患者表现出更严重的表型。
