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揭开谜团:原发性进行性言语失用症——一例报告。

Unveiling the enigmatic: Primary progressive apraxia of speech - A case report.

作者信息

Bernad Mateusz, Kowalska-Taczanowska Renata, Wąs Karolina Duszyńska-, Mączewska Joanna, Alster Piotr, Koziorowski Dariusz, Figura Monika

机构信息

Student Scientific Group "Nekon" by the Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Kondratowicza 8 St., 03-242 Warsaw, Poland.

Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw. Kondratowicza 8 St., 03-242 Warsaw, Poland.

出版信息

Clin Park Relat Disord. 2025 Feb 24;12:100304. doi: 10.1016/j.prdoa.2025.100304. eCollection 2025.

Abstract

Primary progressive apraxia of speech (PPAOS) is a rare neurodegenerative disorder that saliently affects motor speech programming and planning. Linguistic function remains intact in the early stages of PPAOS. Although PPAOS shares a similar symptomatology to conditions such as primary progressive aphasia (PPA) and dysarthria, it is important to remember that this disorder constitutes its own distinct clinical syndrome. PPAOS is characterized by an individually variable disease course, with a steady progression in speech deterioration. In later stages, this disorder may additionally present with symptoms such as oral apraxia, dysarthria, dysphagia, aphasia, and parkinsonian syndromes similar to either progressive supranuclear palsy (PSP) or corticobasal syndrome (CBS). 4-repeat tauopathy is the most common pathology associated with PPAOS. In this study, we present a case of a female patient suffering from PPAOS, detailing her clinical course during a 44-year long follow-up. As PPAOS is a disorder with a worldwide poorly-documented prevalence, there is limited data in literature on the subject. We thus bring this case to public discussion. We also recommend further investigating this disorder, as we would then be able to unify diagnostic and therapeutic approaches for PPAOS.

摘要

原发性进行性言语失用症(PPAOS)是一种罕见的神经退行性疾病,主要影响言语运动编程和规划。在PPAOS的早期阶段,语言功能保持完好。尽管PPAOS与原发性进行性失语症(PPA)和构音障碍等疾病有相似的症状,但重要的是要记住,这种疾病构成了其独特的临床综合征。PPAOS的特点是病程因人而异,言语恶化呈稳步进展。在后期,这种疾病可能还会出现诸如口失用症、构音障碍、吞咽困难、失语症以及类似于进行性核上性麻痹(PSP)或皮质基底节综合征(CBS)的帕金森综合征等症状。4R tau蛋白病是与PPAOS相关的最常见病理。在本研究中,我们报告了一例患有PPAOS的女性患者病例,详细描述了她在长达44年随访期间的临床病程。由于PPAOS是一种全球患病率记录不足的疾病,关于该主题的文献数据有限。因此,我们将此病例进行公开讨论。我们还建议进一步研究这种疾病,以便能够统一PPAOS的诊断和治疗方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/659c/11927739/549828b482b2/gr1.jpg

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