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

You might also read

Related Articles

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

Sort by

Same author

How do the incomes of Israeli Arab physicians compare with those of Israeli Jewish physicians?

Israel journal of health policy research·2026

Same author

A Pilot Comparative Study of Multi-Contrast Dental MRI and CBCT: Clinical Correlates of Disease Status and Inflammatory Burden in Periodontitis.

Journal of clinical periodontology·2026

Same author

Spontaneous cortical vasodynamics form a multiscale propagation architecture in the awake brain.

bioRxiv : the preprint server for biology·2026

Same author

Addressing the needs of nano-rare patients: the n-Lorem experience.

Nucleic acids research·2026

Same author

Weak supervision of H&E slides reveals systems-level biology and functional states that govern therapeutic resistance.

bioRxiv : the preprint server for biology·2026

Same author

Reliability of TRUST ASL for measuring cerebral blood flow and blood-brain barrier water exchange: a scan-rescan pilot study in healthy subjects and patients with epilepsy.

medRxiv : the preprint server for health sciences·2026

Same journal

Disrupted WWOX-MYC interplay impairs neurogenesis in human brain organoids.

Brain : a journal of neurology·2026

Same journal

SMPD4 deficiency disrupts indirect neurogenesis and neuronal migration in gyrencephalic cortex.

Brain : a journal of neurology·2026

Same journal

Retinal hyper-reflective foci link retinal and cortical pathology in paediatric multiple sclerosis.

Brain : a journal of neurology·2026

Same journal

Two scripts, two pathways: dorsal-ventral biases in post-stroke kana-kanji agraphia.

Brain : a journal of neurology·2026

Same journal

Blood cytotoxic natural killer-like CD8 + CD94+ T cells migrate to the brain and predict multiple sclerosis severity.

Brain : a journal of neurology·2026

Same journal

Time to reconsider risk for psychosis?

Brain : a journal of neurology·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Feb 18, 2026

A Mouse Model for Vascular Cognitive Impairment and Dementia Based on Needle-guided Asymmetric Bilateral Common Carotid Artery Stenosis

A Mouse Model for Vascular Cognitive Impairment and Dementia Based on Needle-guided Asymmetric Bilateral Common Carotid Artery Stenosis

Published on: November 22, 2024

ABCD1 dysfunction alters white matter microvascular perfusion.

Arne Lauer^1,2, Xiao Da³, Mikkel Bo Hansen⁴

¹Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.

Brain : a Journal of Neurology

|November 15, 2017

Summary

This summary is machine-generated.

X-linked adrenoleukodystrophy (X-ALD) involves brain microvascular dysfunction, leading to neurodegeneration. Early detection of capillary flow changes in white matter may predict disease progression and treatment response.

Keywords:

ABCD1 ALD cerebral X-linked adrenoleukodystrophy inflammatory demyelination microvascular perfusion

More Related Videos

Using Retinal Imaging to Study Dementia

Using Retinal Imaging to Study Dementia

Published on: November 6, 2017

Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases

Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases

Published on: July 28, 2013

Related Experiment Videos

Last Updated: Feb 18, 2026

A Mouse Model for Vascular Cognitive Impairment and Dementia Based on Needle-guided Asymmetric Bilateral Common Carotid Artery Stenosis

A Mouse Model for Vascular Cognitive Impairment and Dementia Based on Needle-guided Asymmetric Bilateral Common Carotid Artery Stenosis

Published on: November 22, 2024

Using Retinal Imaging to Study Dementia

Using Retinal Imaging to Study Dementia

Published on: November 6, 2017

Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases

Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases

Published on: July 28, 2013

Area of Science:

Neuroscience
Genetics
Vascular Biology

Background:

X-linked adrenoleukodystrophy (X-ALD) is a severe neurodegenerative disorder caused by ABCD1 gene mutations.
It leads to progressive cerebral inflammatory demyelination in males, with white matter microvascular dysfunction implicated in disease onset.

Purpose of the Study:

To investigate the role of ABCD1 in white matter microvascular function.
To identify early biomarkers for cerebral X-ALD progression and treatment response.

Main Methods:

Utilized a vascular model with dynamic susceptibility contrast magnetic resonance perfusion imaging.
Analyzed capillary flow heterogeneity and blood-brain barrier permeability in X-ALD patients and asymptomatic carriers.

Main Results:

Asymptomatic hemizygotes showed increased capillary flow heterogeneity in white matter, predicting disease conversion.
Ongoing demyelination correlated with capillary flow heterogeneity followed by blood-brain barrier changes, predicting lesion progression.
Hematopoietic stem cell transplantation normalized microvascular alterations within a year.

Conclusions:

ABCD1 deficiency impairs white matter microvascular function, contributing to X-ALD pathogenesis.
Microvascular alterations serve as early biomarkers for disease progression and treatment efficacy in X-ALD.