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

Sex-linked Disorders01:43

Sex-linked Disorders

102.3K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.3K
X-linked Traits01:19

X-linked Traits

55.0K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
55.0K
Alzheimer's Disease: Overview01:26

Alzheimer's Disease: Overview

498
Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ...
498
Pedigree Analysis01:35

Pedigree Analysis

84.3K
Overview
84.3K
Lethal Alleles02:41

Lethal Alleles

15.5K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
15.5K
Genetic Lingo01:11

Genetic Lingo

102.9K
Overview
102.9K

You might also read

Related Articles

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

Sort by
Same author

Cardiopulmonary Consequences of Scoliosis and the Clinical Implications of VO<sub>2</sub>max: A Systematic Review.

Journal of the Pediatric Orthopaedic Society of North America·2026
Same author

Neuroimaging-Electrophysiological Discordance in Paediatric Seizures: Implications of Repeat MRI.

Irish journal of medical science·2026
Same author

Rheumatoid arthritis and interstitial lung disease: the role of comorbidities-a retrospective analysis of two RA inception cohorts in the UK.

Rheumatology (Oxford, England)·2026
Same author

Pediatric virtual fracture clinic. Our first 10K!

Injury·2025
Same author

Ischemic core or reversible tissue? Limits of a single ADC threshold in predicting DWI reversal after rapid and successful thrombectomy.

European radiology·2025
Same author

Cognitive outcomes and performance of patients diagnosed and treated for N-Methyl-D-Aspartate receptor antibody-mediated (NMDAR) encephalitis compared with patients with schizophrenia and healthy controls.

Psychiatry research. Neuroimaging·2025

Related Experiment Video

Updated: Jul 12, 2025

Isolation and Cannulation of Cerebral Parenchymal Arterioles
09:49

Isolation and Cannulation of Cerebral Parenchymal Arterioles

Published on: May 23, 2016

11.8K

X-linked cerebral adrenoleukodystrophy.

Cara Louise Weldrick1, Peter Boers2, Patrick Kiely3

  • 1Neurology, University Hospital Limerick, Limerick, Ireland caraweldrick@yahoo.co.uk.

BMJ Case Reports
|October 31, 2023
PubMed
Summary

This case study highlights X-linked adrenoleukodystrophy (X-ALD) presenting as tumefactive multiple sclerosis. Early diagnosis through genetic testing is crucial for managing this rare metabolic disorder.

Keywords:
Neuro geneticsNeuroendocrinologyNeuroimagingNeurology

More Related Videos

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

7.9K
Author Spotlight: Insights and Innovations in Gene Expression Manipulation Techniques for Choroid Plexus Research
04:43

Author Spotlight: Insights and Innovations in Gene Expression Manipulation Techniques for Choroid Plexus Research

Published on: June 16, 2023

974

Related Experiment Videos

Last Updated: Jul 12, 2025

Isolation and Cannulation of Cerebral Parenchymal Arterioles
09:49

Isolation and Cannulation of Cerebral Parenchymal Arterioles

Published on: May 23, 2016

11.8K
An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

7.9K
Author Spotlight: Insights and Innovations in Gene Expression Manipulation Techniques for Choroid Plexus Research
04:43

Author Spotlight: Insights and Innovations in Gene Expression Manipulation Techniques for Choroid Plexus Research

Published on: June 16, 2023

974

Area of Science:

  • Neurology
  • Genetics
  • Metabolic Disorders

Background:

  • X-linked adrenoleukodystrophy (X-ALD) is a rare genetic metabolic disorder affecting the adrenal glands, brain, and spinal cord.
  • It is caused by mutations in the ABCD1 gene, leading to the accumulation of very long-chain fatty acids (VLCFAs).
  • X-ALD can present with diverse neurological symptoms, often mimicking other conditions like multiple sclerosis.

Observation:

  • A man in his 30s with a history of epilepsy and vitamin B12 deficiency presented with progressive left-sided weakness.
  • MRI revealed an extensive white matter lesion in the right hemisphere extending into the brainstem.
  • Brain biopsy showed demyelination and gliosis, initially suggesting tumefactive multiple sclerosis.

Findings:

  • Serum very long-chain fatty acids were significantly elevated.
  • Genetic testing confirmed a mutation in the ABCD1 gene.
  • The patient was diagnosed with X-linked adrenoleukodystrophy (X-ALD).

Implications:

  • This case underscores the importance of considering rare metabolic disorders in the differential diagnosis of demyelinating lesions.
  • Elevated VLCFAs and genetic testing are critical for diagnosing X-ALD.
  • Timely diagnosis of X-ALD is essential for appropriate management and genetic counseling.