一种新的基因变异，表现为年轻时发病迅速进行性痴呆和帕金森综合征。

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY Parkinsonism & related disorders Pub Date : 2024-10-01 Epub Date: 2023-09-09 DOI:10.1016/j.parkreldis.2023.105849

Negin Eissazade, Afagh Alavi, Anthony E Lang, Mohammad Rohani, Maziar Emamikhah, Tara Khoeini

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引用次数: 0

摘要

帕金森病有多种神经退行性或遗传原因。因此，临床医生在面对帕金森病患者时，尤其是与其他临床特征相关的患者时，应考虑增加鉴别诊断的范围。年轻发作的帕金森病，尤其是伴有特发性帕金森病中不常见的特征时，增加了遗传病因的可能性。在此，我们报告一例40岁男性遗传性帕金森氏症，表现为快速进行性痴呆。这一轮将描述我们对这种临床表现的方法，以及一种罕见遗传疾病的揭示。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

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.

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来源期刊

Parkinsonism & related disorders 医学-临床神经学

CiteScore

6.20

自引率

4.90%

发文量

292

审稿时长

39 days

期刊介绍： Parkinsonism & Related Disorders publishes the results of basic and clinical research contributing to the understanding, diagnosis and treatment of all neurodegenerative syndromes in which Parkinsonism, Essential Tremor or related movement disorders may be a feature. Regular features will include: Review Articles, Point of View articles, Full-length Articles, Short Communications, Case Reports and Letter to the Editor.