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复杂神经遗传疾病中的帕金森病：遗传性痴呆、成年发病的共济失调和痉挛性截瘫的启示。

Parkinsonism in complex neurogenetic disorders: lessons from hereditary dementias, adult-onset ataxias and spastic paraplegias.

机构信息

Department of Advanced Medical and Surgical Sciences (DAMSS), University of Campania "Luigi Vanvitelli", Naples, Italy.

Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Pisa, Italy.

出版信息

Neurol Sci. 2023 Oct;44(10):3379-3388. doi: 10.1007/s10072-023-07044-9. Epub 2023 Aug 30.

DOI:10.1007/s10072-023-07044-9
PMID:37648940
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10495519/
Abstract

Parkinsonism is a syndrome characterized by bradykinesia in combination with either rest tremor, rigidity, or both. These features are the cardinal manifestations of Parkinson's disease, the most common cause of parkinsonism, and atypical parkinsonian disorders. However, parkinsonism can be a manifestation of complex neurological and neurodegenerative genetically determined disorders, which have a vast and heterogeneous motor and non-motor phenotypic features. Hereditary dementias, adult-onset ataxias and spastic paraplegias represent only few of this vast group of neurogenetic diseases. This review will provide an overview of parkinsonism's clinical features within adult-onset neurogenetic diseases which a neurologist could face with. Understanding parkinsonism and its characteristics in the context of the aforementioned neurological conditions may provide insights into pathophysiological mechanisms and have important clinical implications, including diagnostic and therapeutic aspects.

摘要

帕金森病是一种以运动迟缓为特征的综合征，伴有静止性震颤、肌肉僵直或二者皆有。这些特征是帕金森病最常见的病因，也是帕金森综合征和非典型帕金森病的主要表现。然而，帕金森病也可能是复杂的神经退行性遗传疾病的一种表现，这些疾病具有广泛且异质的运动和非运动表型特征。遗传性痴呆、成人发病的共济失调和痉挛性截瘫只是这一大类神经遗传疾病中的一小部分。本综述将概述神经遗传疾病中成人起病的帕金森病的临床特征，这些疾病可能会使神经科医生遇到。了解帕金森病及其在上述神经疾病背景下的特征可能有助于深入了解病理生理机制，并具有重要的临床意义，包括诊断和治疗方面。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6dc/10495519/6c6ab499efbc/10072_2023_7044_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6dc/10495519/edba3a8122e7/10072_2023_7044_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6dc/10495519/ae066c594014/10072_2023_7044_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6dc/10495519/6c6ab499efbc/10072_2023_7044_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6dc/10495519/edba3a8122e7/10072_2023_7044_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6dc/10495519/ae066c594014/10072_2023_7044_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6dc/10495519/6c6ab499efbc/10072_2023_7044_Fig3_HTML.jpg

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4
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5
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Mov Disord. 2022 Sep;37(9):1938-1943. doi: 10.1002/mds.29139. Epub 2022 Jul 6.
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