Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Chronic Kidney Disease II: Clinical Manifestations01:24

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 Manifestations01:30

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 Endocarditis01:25

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 Manifestations01:26

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 Management01:29

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...
647
Hypertension III: Clinical Manifestations and Diagnostic Studies01:30

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

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

When exome analysis is the key for your patient with cognitive decline: a case report.

Dementia & neuropsychologia·2026
Same author

Relationship between subjective well-being and cognitive performance in older adults.

Dementia & neuropsychologia·2026
Same author

Overview of subjective cognitive decline in Brazil: a narrative review.

Dementia & neuropsychologia·2026
Same author

HPV vaccine and age of sexual debut of adolescents: A nationwide cross-sectional study.

Vaccine·2026
Same author

Dementia screening protocol for primary care in South America: a Delphi consensus study.

Frontiers in public health·2026
Same author

High purpose in life of older adults is associated with younger age, higher education, and being female.

Arquivos de neuro-psiquiatria·2026

Related Experiment Video

Updated: Jan 7, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

16.4K

Clinical Manifestations.

Mauricio Silva Teixeira1,2, Anna Maria Gomes2, Hindalis Ballesteros Epifanio2

  • 1Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil.

Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 25, 2025
PubMed
Summary
This summary is machine-generated.

Fatal Familial Insomnia (FFI), a rare prion disease, can mimic dementia with Lewy bodies (DLB). Genetic testing revealed the D178N mutation in the PRNP gene, confirming FFI in a patient with progressive dementia and sleep abnormalities.

More Related Videos

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
04:44

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Published on: June 16, 2020

20.7K
Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling
09:08

Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling

Published on: October 14, 2021

6.1K

Related Experiment Videos

Last Updated: Jan 7, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

16.4K
Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
04:44

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Published on: June 16, 2020

20.7K
Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling
09:08

Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling

Published on: October 14, 2021

6.1K

Area of Science:

  • Neurology
  • Genetics
  • Prion Diseases

Background:

  • Fatal Familial Insomnia (FFI) is a rare, autosomal dominant prion disease.
  • This case presents FFI initially mimicking dementia with Lewy bodies (DLB).

Purpose of the Study:

  • To report a case of FFI with atypical presentation.
  • To highlight the importance of thorough investigation in suspected DLB cases with alarm signs.

Main Methods:

  • Case study of a 48-year-old male with progressive dementia and insomnia.
  • Utilized brain MRI, FDG-PET, TRODAT SPECT, polysomnography, and PRNP gene sequencing.
  • Identified the pathogenic c.532G>A:p (Asp178Asn) variant in the PRNP gene.

Main Results:

  • The patient exhibited rapidly progressive dementia, cognitive fluctuations, hallucinations, parkinsonism, and severe dysautonomia.
  • Genetic analysis confirmed the D178N mutation in the PRNP gene, linked to FFI.
  • While thalamic hypometabolism was absent, striatal involvement was noted on TRODAT SPECT, correlating with parkinsonism.

Conclusions:

  • FFI can manifest with diverse clinical phenotypes, including presentations resembling DLB.
  • Rapidly progressive dementia, sleep disturbances, and a family history warrant further investigation beyond initial DLB suspicion.