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本文引用的文献

1
Differential effects of severe vs mild GBA mutations on Parkinson disease.重度与轻度GBA突变对帕金森病的不同影响。
Neurology. 2015 Mar 3;84(9):880-7. doi: 10.1212/WNL.0000000000001315. Epub 2015 Feb 4.
2
Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort.GBA 突变阳性队列中帕金森病前驱临床标志物的演变
JAMA Neurol. 2015 Feb;72(2):201-8. doi: 10.1001/jamaneurol.2014.2950.
3
GBA-associated Parkinson's disease: reduced survival and more rapid progression in a prospective longitudinal study.GBA相关帕金森病：一项前瞻性纵向研究中的生存率降低及进展更快
Mov Disord. 2015 Mar;30(3):407-11. doi: 10.1002/mds.26071. Epub 2014 Dec 1.
4
Conversion between mini-mental state examination, montreal cognitive assessment, and dementia rating scale-2 scores in Parkinson's disease.帕金森病中简易精神状态检查表、蒙特利尔认知评估量表和痴呆评定量表-2评分之间的转换
Mov Disord. 2014 Dec;29(14):1809-15. doi: 10.1002/mds.26062. Epub 2014 Nov 7.
5
Glucocerebrosidase mutations in primary parkinsonism.原发性帕金森病中的葡萄糖脑苷脂酶突变
Parkinsonism Relat Disord. 2014 Nov;20(11):1215-20. doi: 10.1016/j.parkreldis.2014.09.003. Epub 2014 Sep 9.
6
Cognitive impairment in carriers of glucocerebrosidase gene mutation in Parkinson disease patients.帕金森病患者葡萄糖脑苷脂酶基因突变携带者的认知障碍。
Neurol Neurochir Pol. 2014;48(4):258-61. doi: 10.1016/j.pjnns.2014.07.005. Epub 2014 Jul 29.
7
Visual short-term memory deficits associated with GBA mutation and Parkinson's disease.与 GBA 突变和帕金森病相关的视觉短期记忆缺陷。
Brain. 2014 Aug;137(Pt 8):2303-11. doi: 10.1093/brain/awu143. Epub 2014 Jun 11.
8
Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes.戈谢病伴 GBA 杂合子的阿什肯纳兹犹太裔帕金森病风险比较。
JAMA Neurol. 2014 Jun;71(6):752-7. doi: 10.1001/jamaneurol.2014.313.
9
Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease.家族性帕金森病患者GBA基因突变的临床遗传学研究
Neurobiol Aging. 2014 Apr;35(4):935.e3-8. doi: 10.1016/j.neurobiolaging.2013.09.019. Epub 2013 Oct 12.
10
Clinical profiles of Parkinson's disease associated with common leucine-rich repeat kinase 2 and glucocerebrosidase genetic variants in Chinese individuals.中国人群中与常见富含亮氨酸重复激酶2和葡萄糖脑苷脂酶基因变异相关的帕金森病临床特征
Neurobiol Aging. 2014 Mar;35(3):725.e1-6. doi: 10.1016/j.neurobiolaging.2013.08.012. Epub 2013 Oct 3.

与[具体内容缺失]相关的帕金森病的神经精神和运动特征：综述。

The Neuropsychiatric and Motor Profile of -Associated Parkinson's Disease: A Review.

作者信息

Pal Gian, Robertson Erin, O'Keefe Joan, Hall Deborah

机构信息

Department of Neurological Sciences Rush University Chicago Illinois USA.

Department of Anatomy & Cell Biology Rush University Chicago Illinois USA.

出版信息

Mov Disord Clin Pract. 2015 Sep 16;3(1):4-8. doi: 10.1002/mdc3.12229. eCollection 2016 Jan-Feb.

DOI:10.1002/mdc3.12229
PMID:30363594
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6178756/
Abstract

BACKGROUND

Cognitive and motor decline, along with psychiatric symptoms, have a major impact on independence, nursing home admission, caregiver burden, and mortality in Parkinson's disease (PD). The single most common genetic risk factor for developing PD is a mutation in the () gene.

METHODS

This work is a literature review regarding "GBA" and "Parkinson's disease" as conducted by PubMed search.

RESULTS

There is a higher prevalence of cognitive decline and more rapid trajectory of disease progression in PD- carriers, compared to noncarriers. PD- carriers also have domain-specific cognitive impairment, particularly in visual memory tasks. PD- carriers may also have a more aggressive motor phenotype than noncarriers.

CONCLUSIONS

Early identification of PD- carriers may lead to targeted therapies and development of new treatments.

摘要

背景

认知和运动功能衰退，以及精神症状，对帕金森病（PD）患者的独立性、入住养老院、照顾者负担和死亡率有重大影响。发生帕金森病最常见的单一遗传风险因素是（）基因的突变。

方法

本研究是通过PubMed检索进行的关于“GBA”和“帕金森病”的文献综述。

结果

与非携带者相比，帕金森病携带者认知功能衰退的患病率更高，疾病进展轨迹更快。帕金森病携带者还存在特定领域的认知障碍，尤其是在视觉记忆任务方面。帕金森病携带者的运动表型可能也比非携带者更具侵袭性。

结论

早期识别帕金森病携带者可能会带来靶向治疗并推动新疗法的开发。