临床表现 临床表现
Paulo Eduardo Lahoz Fernandez1, Paulo Henrique Ferreira Bertolucci1
1Federal University of São Paulo - UNIFESP, São Paulo, SP, Brazil.
Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 24, 2025
概括
进子素 (GRN) 突变甚至在非家族病例中也会导致前叶退行症 (FTLD) 和初级渐进性失言症 (PPA). 这项研究强调了一种罕见的混合PPA病例,具有GRN突变,强调对非典型PPA呈现的基因测试.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 语言学的语言学.
背景情况:
- 进激素 (GRN) 突变是前叶退化 (FTLD) 的已知原因,通常呈现为行为变体FTD (bvFTD) 或初级渐进性失言症 (PPA).
- 在非家族病例和非典型的PPA表型中越来越多地识别GRN突变,包括语义 (sPPA),逻辑 (lvPPA) 和混合 (mPPA) 变体.
研究的目的:
- 报告罕见的零星原发性渐进性失语病例的临床,遗传和成像特征,该病例具有混合表型和GRN突变.
- 强调在不典型或混合PPA呈现的患者中考虑GRN突变的重要性,无论家族病史如何.
主要方法:
- 详细的临床评估,包括神经学检查和神经心理评估.
- 大脑MRI用于识别缩的模式.
- 基因检测以确认GRN基因突变的存在.
主要成果:
- 一名68岁的妇女呈现了9年的进展性语言障碍史,包括命名,理解和自发言语困难,与混合的nfvPPA和sPPA表型一致.
- 神经心理学测试显示了贫血症,单词理解障碍,言语失调和语法障碍. 大脑MRI显示左半球显著缩,特别是在部和前端岛屿区域.
- 基因测试证实了GRN基因突变.
结论:
- 与GRN突变相关的混合PPA可以在语法,语言流性和语义语言领域同时出现损害,影响各种神经通路.
- 这些发现表明,GRN突变的基因测试应该超越家族病例,包括零星和非典型的PPA呈现.
- 在患有混合或非典型PPA表型的患者中,应强烈考虑GRN突变,因为它们有可能导致具有异质临床特征的重叠综合征.
相关概念视频
Chronic Kidney Disease II: Clinical Manifestations
516
Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
516
Coronary Artery Disease III: Clinical Manifestations
295
Coronary Artery Disease (CAD) is a primary health risk worldwide, leading to significant morbidity and mortality. The condition arises from the buildup of atherosclerotic plaques within the coronary arteries, resulting in diminished blood supply to the heart muscle.The clinical manifestations of CAD vary widely, from asymptomatic stages to severe, life-threatening conditions. Understanding these manifestations is crucial for early diagnosis and effective management.Angina Pectoris: The Warning...
295
Endocarditis II: Clinical Features of Infective Endocarditis
358
Endocarditis can present various clinical features depending on the causative organism and the patient's underlying health conditions. Initially, the clinical features of infective endocarditis develop gradually, presenting with nonspecific symptoms that can be easily mistaken for other illnesses.General SymptomsEarly symptoms of infective endocarditis are fever, chills, weakness, malaise, fatigue, and weight loss. These symptoms reflect the systemic nature of the infection and the body's...
358
Heart Failure III: Clinical Manifestations
430
Heart failure (HF) manifests primarily as dyspnea, fatigue, and fluid retention, resulting in peripheral and pulmonary edema. Symptoms may vary depending on which ventricle is more affected, left or right.Left-Sided Heart FailureAlso known as left ventricular failure, this condition results from the left ventricle's inability to fill or eject sufficient blood into the systemic circulation. It leads to pulmonary congestion, which occurs when the left ventricle fails to eject blood effectively...
430
Gastroesophageal Reflux Disease II: Clinical Features and Management
647
Gastroesophageal reflux disease, or GERD, is a persistent medical condition that affects many individuals worldwide. Its clinical manifestations can vary greatly, making diagnosis and management challenging for healthcare professionals. The following is a comprehensive overview of the clinical manifestations, assessment, and management strategies for GERD.
Clinical Manifestations
GERD presents itself in a multitude of ways, with symptoms varying from person to person. The hallmark symptoms are...
Clinical Manifestations
GERD presents itself in a multitude of ways, with symptoms varying from person to person. The hallmark symptoms are...
647
Hypertension III: Clinical Manifestations and Diagnostic Studies
433
Hypertension is asymptomatic and also referred to as the "silent killer" until it progresses to a severe stage or causes target organ disease. Patients may experience symptoms stemming from the strain on blood vessels and tissues in various organs or the heart's increased workload.Physical exams might show no abnormalities other than high blood pressure. Signs of vascular damage, when present, correspond to the organs supplied by the affected vessels, leading to target organ damage. For...
433


