Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Alternative RNA Splicing

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

Rocky Mountain Spotted Fever

Rocky Mountain Spotted Fever

Rocky Mountain Spotted Fever (RMSF) is a severe tick-borne illness caused by Rickettsia rickettsii, a Gram-negative, coccobacillary bacterium. This pathogen is an obligate intracellular parasite, requiring a host cell for replication. Transmission occurs through the bite of an infected tick. In the United States, the most important vectors are Dermacentor variabilis (American dog tick) and Dermacentor andersoni (Rocky Mountain wood tick), though other tick species may also serve as vectors.

Chickenpox

Chickenpox

Chickenpox is an acute, highly contagious disease caused by the varicella-zoster virus (VZV), a double-stranded DNA virus belonging to the Herpesviridae family. Its transmission occurs primarily through the inhalation of respiratory droplets or direct contact with vesicular fluid from skin lesions. The incubation period typically ranges from 10 to 21 days, during which the virus replicates and disseminates through sequential phases within the host. Although generally self-limiting in children,...

Toxoplasmosis

Toxoplasmosis

Toxoplasmosis, a zoonotic disease caused by the protozoan Toxoplasma gondii, poses significant public health challenges globally due to its high seroprevalence and varied clinical manifestations. As an obligate intracellular parasite, T. gondii can infect all warm-blooded vertebrates, but felids are its only definitive hosts, shedding unsporulated oocysts into the environment. Humans typically acquire the infection through ingestion of tissue cysts in undercooked meat or oocysts from...

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...

Huntington Disease l: Introduction

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...

You might also read

Related Articles

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

Sort by

Same author

First-in-human study of FAZ053, an anti-programmed death-ligand 1 (anti-PD-L1) monoclonal antibody, alone and in combination with spartalizumab (anti-PD-1), in patients with advanced malignancies.

ESMO open·2025

Same author

How Seafood Wholesale Markets Matter for Urban Food Security: Evidence from Chennai, India.

The European journal of development research·2022

Same author

Parvovirus-related anaemia and thrombotic microangiopathy in a renal transplant recipient.

The New Zealand medical journal·2020

Same author

Crystal structure and Hirshfeld surface analysis of 2-[(2-oxo-2<i>H</i>-chromen-4-yl)-oxy]acetic acid dimethyl sulfoxide monosolvate.

Acta crystallographica. Section E, Crystallographic communications·2019

Same author

The crystal structures of two new coumarin derivatives: 2-(4-{2-[(2-oxo-2<i>H</i>-chromen-4-yl)-oxy]acet-yl}piperazin-1-yl)acetamide and <i>N</i>-(2,4-di-meth-oxy-benz-yl)-2-[(2-oxo-2<i>H</i>-chromen-4-yl)-oxy]acetamide.

Acta crystallographica. Section E, Crystallographic communications·2019

Same author

Cystic echinococcosis in Turkana, Kenya: 30 years of imaging in an endemic region.

Acta tropica·2017

Search research articles

Related Experiment Video

Updated: Jul 20, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Hallerborden Spatz disease.

V Raji¹, S E Dhanasegaran, Usha

¹Govt General Hospital, Chennai.

The Journal of the Association of Physicians of India

|September 2, 2006

Summary

Hallervorden Spatz disease, now Neurodegeneration with brain iron accumulation, is a rare neurological disorder. This case highlights its key features: cervical dystonia, retinal degeneration, and a characteristic brain MRI finding.

Area of Science:

Neurology
Genetics
Neuroimaging

Background:

Hallervorden Spatz disease is a rare, inherited neurodegenerative disorder.
It is characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain.
Recently renamed Neurodegeneration with brain iron accumulation (NBIA).

Observation:

A case report of an 18-year-old male patient.
The patient presented with cervical dystonia and pigmentary retinal degeneration.
Brain MRI revealed the characteristic "eye-of-the-tiger" sign.

Findings:

The case exemplifies the clinical and radiological features of NBIA.
The "eye-of-the-tiger" sign on MRI is a key diagnostic indicator.
Early diagnosis is crucial for managing progressive neurological symptoms.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Isolating Potentiated Hsp104 Variants Using Yeast Proteinopathy Models

Isolating Potentiated Hsp104 Variants Using Yeast Proteinopathy Models

Published on: November 11, 2014

Related Experiment Videos

Last Updated: Jul 20, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Isolating Potentiated Hsp104 Variants Using Yeast Proteinopathy Models

Isolating Potentiated Hsp104 Variants Using Yeast Proteinopathy Models

Published on: November 11, 2014

Implications:

This case underscores the importance of recognizing rare neurological disorders.
Understanding NBIA's presentation aids in timely diagnosis and patient management.
Further research into NBIA pathogenesis and treatment is warranted.