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

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

321
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
321
Fungal Phylum Microsporidia01:28

Fungal Phylum Microsporidia

67
Microsporidia are a group of obligate intracellular fungi that were initially classified as protists but were later reclassified based on phylogenetic, molecular, and structural evidence linking them to the Chytridiomycota. These unicellular, non-motile organisms are highly specialized parasites that infect a wide range of animal hosts, including humans. They have evolved extensive genomic and metabolic reductions, making them highly dependent on their hosts for survival.Morphology and Genomic...
67
Infertility in Males01:23

Infertility in Males

310
Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...
310
Tissue Transplantation01:24

Tissue Transplantation

455
Tissue transplantation is a significant medical procedure involving the transfer of cells, tissues, or organs from a donor to a recipient, with the primary aim of restoring lost functions. This procedure is crucial in treating a broad spectrum of diseases, including kidney diseases, liver failure, heart disease, and certain types of cancers.
The Biology of Tissue Transplantation
The biology of tissue transplantation hinges on the Major Histocompatibility Complex (MHC) molecules. These molecules...
455

You might also read

Related Articles

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

Sort by
Same author

Practical Tortuosity Index Is Associated with Complete Recanalization in Distal M2 Thrombectomy: The D-MOTIVE Study.

AJNR. American journal of neuroradiology·2026
Same author

The predictive power of neuropsychological measures in MCI: early detection of dementia conversion.

Frontiers in aging neuroscience·2026
Same author

Landscape of copy number variants in Spanish people with dementia.

NPJ genomic medicine·2026
Same author

Efficacy and safety of pyrimidine nucleos(t)ide therapy in thymidine kinase 2 deficiency.

Brain communications·2026
Same author

Plasma p-tau217 measured by the Elecsys automated immunoassay: Prospective validation in a heterogeneous memory clinic cohort.

Journal of Alzheimer's disease : JAD·2026
Same author

Predictors of functional disability in nitrous oxide induced myeloneuropathy: an observational study.

Neuromuscular disorders : NMD·2026

Related Experiment Video

Updated: Aug 11, 2025

Sexual Development and Ascospore Discharge in Fusarium graminearum
08:20

Sexual Development and Ascospore Discharge in Fusarium graminearum

Published on: March 29, 2012

22.0K

Lessons learned from a sporadic FUSopathy in a young man: a case report.

Ernesto García-Roldán1, Eloy Rivas-Infante2, Manuel Medina-Rodríguez3

  • 1Department of Neurology, Memory Unit, Institute of Biomedicine of Seville, Hospital Universitario Virgen del Rocío, Sevilla, Spain. egroldan@us.es.

BMC Neurology
|February 2, 2023
PubMed
Summary

Fusopathy, a form of frontotemporal dementia (FTD), should be suspected in young patients with rapidly progressive cognitive and motor decline. This case highlights FUS-positive basophilic inclusions body disease (BIBD) mimicking FTD.

Keywords:
Frontotemporal lobar degenerationNeurodegenerative diseasesRNA-Binding protein FUS

More Related Videos

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
05:58

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

10.9K
Refined Murine Model of Idiopathic Pulmonary Fibrosis
07:51

Refined Murine Model of Idiopathic Pulmonary Fibrosis

Published on: June 17, 2025

211

Related Experiment Videos

Last Updated: Aug 11, 2025

Sexual Development and Ascospore Discharge in Fusarium graminearum
08:20

Sexual Development and Ascospore Discharge in Fusarium graminearum

Published on: March 29, 2012

22.0K
Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
05:58

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

10.9K
Refined Murine Model of Idiopathic Pulmonary Fibrosis
07:51

Refined Murine Model of Idiopathic Pulmonary Fibrosis

Published on: June 17, 2025

211

Area of Science:

  • Neurology
  • Neuroscience
  • Pathology

Background:

  • Frontotemporal dementia (FTD) spectrum encompasses conditions like fusopathy, often presenting with rapid cognitive decline in younger individuals.
  • This study details a unique case within the FTD spectrum, focusing on clinical presentation and neuropathological findings.

Observation:

  • A 37-year-old man presented with dysarthria and behavioral changes, rapidly progressing to spastic dysarthria, pseudobulbar syndrome, and corticobasal syndrome.
  • Neuroimaging revealed left fronto-insular atrophy and hypometabolism, with abnormal DaT-SCAN® findings.
  • Genetic testing for common FTD-related genes was negative.

Findings:

  • Neuropathological examination identified severe frontotemporal atrophy with basophilic neuronal cytoplasmic and intranuclear inclusions.
  • These inclusions were positive for fused in sarcoma (FUS) and consistent with basophilic inclusions body disease (BIBD).
  • Lower motor neuron signs were detected late via electromyography (EMG).

Implications:

  • Fusopathy, specifically FUS-positive BIBD, should be considered in young FTD patients with rapid progression and early motor involvement.
  • The findings expand the understanding of FTD spectrum disorders and their diverse clinical and pathological manifestations.
  • This case underscores the importance of considering rare etiologies in rapidly progressive neurodegenerative diseases.