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本文引用的文献

1
Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update.遗传运动障碍命名：国际帕金森病与运动障碍学会工作组的建议——更新版。
Mov Disord. 2022 May;37(5):905-935. doi: 10.1002/mds.28982. Epub 2022 Apr 28.
2
Evaluation of common and rare variants of Alzheimer's disease-causal genes in Parkinson's disease.评估阿尔茨海默病因果基因的常见和罕见变异在帕金森病中的作用。
Parkinsonism Relat Disord. 2022 Apr;97:8-14. doi: 10.1016/j.parkreldis.2022.02.016. Epub 2022 Mar 3.
3
A heterozygous de novo PSEN1 mutation in a patient with early-onset parkinsonism.患者携带早发性帕金森病的 PSEN1 杂合新生突变。
Neurol Sci. 2022 Feb;43(2):1405-1409. doi: 10.1007/s10072-021-05726-w. Epub 2021 Nov 29.
4
Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes.拉丁美洲的显性遗传性阿尔茨海默病：遗传异质性和临床表型。
Alzheimers Dement. 2021 Apr;17(4):653-664. doi: 10.1002/alz.12227. Epub 2020 Nov 23.
5
Two Novel Mutations and a Mutation in in Early-onset Alzheimer's Disease.早发性阿尔茨海默病中的两种新突变及一种突变
Aging Dis. 2019 Aug 1;10(4):908-914. doi: 10.14336/AD.2018.1109. eCollection 2019 Aug.
6
Clinical, pathophysiological and genetic features of motor symptoms in autosomal dominant Alzheimer's disease.常染色体显性阿尔茨海默病运动症状的临床、病理生理和遗传特征。
Brain. 2019 May 1;142(5):1429-1440. doi: 10.1093/brain/awz050.
7
Diagnostic Approach of Early-Onset Dementia with Negative Family History: Implications from Two Cases of Early-Onset Alzheimer's Disease with De Novo PSEN1 Mutation.早发性痴呆且家族史阴性的诊断方法：两例 PSEN1 基因突变致早发性阿尔茨海默病的启示。
J Alzheimers Dis. 2019;68(2):551-558. doi: 10.3233/JAD-181108.
8
Neuropathologic assessment of participants in two multi-center longitudinal observational studies: the Alzheimer Disease Neuroimaging Initiative (ADNI) and the Dominantly Inherited Alzheimer Network (DIAN).两项多中心纵向观察性研究参与者的神经病理学评估：阿尔茨海默病神经影像学倡议（ADNI）和显性遗传性阿尔茨海默病网络（DIAN）。
Neuropathology. 2015 Aug;35(4):390-400. doi: 10.1111/neup.12205. Epub 2015 May 12.
9
Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease.β-淀粉样前体蛋白（APP）中的罕见变异与帕金森病
Eur J Hum Genet. 2015 Oct;23(10):1328-33. doi: 10.1038/ejhg.2014.300. Epub 2015 Jan 21.
10
Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation.极早发型家族性阿尔茨海默病：一种新的早老素1突变
Int J Geriatr Psychiatry. 2002 Jul;17(7):649-51. doi: 10.1002/gps.657.

Early-Onset Dementia-Parkinsonism with Rapid Development of Motor Fluctuations and Dyskinesia Due to G206V Pathogenic Variant.

作者信息

Castillo-Torres Sergio A, Rossi Malco, Paez-Maggio Mauricio, Capparelli Federico, Gómez-Arevalo Gonzalo, Merello Marcelo

机构信息

Servicio de Movimientos Anormales, Departamento de Neurología Fleni Buenos Aires Argentina.

Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET) Buenos Aires Argentina.

出版信息

Mov Disord Clin Pract. 2022 Nov 22;10(2):335-337. doi: 10.1002/mdc3.13617. eCollection 2023 Feb.

DOI:10.1002/mdc3.13617
PMID:36825052
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9941923/
Abstract
摘要