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一种新的遗传变异,表现为早发性快速进展性痴呆和帕金森病。

A new genetic variant, presenting as young onset rapidly progressive dementia and parkinsonism.

机构信息

School of Medicine, Iran University of Medical Sciences, Tehran, Iran.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

出版信息

Parkinsonism Relat Disord. 2024 Oct;127:105849. doi: 10.1016/j.parkreldis.2023.105849. Epub 2023 Sep 9.

DOI:10.1016/j.parkreldis.2023.105849
PMID:37726184
Abstract

There are various neurodegenerative or hereditary causes of Parkinsonism. Therefore, clinicians should consider an increasing range of differential diagnoses when facing a patient with Parkinsonism, especially when associated with additional clinical features. Young-onset Parkinsonism, especially when accompanied by features uncommon in idiopathic Parkinson's disease raises the possibility of genetic etiology. Herein, we present a case of a 40-year-old man with genetic Parkinson's disease, presenting with rapidly progressive dementia. This round will describe our approach to this clinical presentation and the unveiling of a rare genetic condition.

摘要

帕金森病有多种神经退行性或遗传性病因。因此,当面对帕金森病患者时,临床医生应考虑越来越多的鉴别诊断,尤其是当伴有其他临床特征时。早发性帕金森病,尤其是伴有特发性帕金森病不常见的特征时,提示遗传病因的可能性。在此,我们介绍一例 40 岁的遗传性帕金森病患者,表现为进行性快速痴呆。本次病例将描述我们对这种临床表现的处理方法和罕见遗传疾病的发现。

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