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Related Experiment Video

Updated: Dec 21, 2025

Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
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Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases

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How to diagnose difficult white matter disorders.

Thomas Williams1, Henry Houlden2, Elaine Murphy3

  • 1Queen Square MS Centre, Department of Neuroinflammation, UCL Institute of Neurology, London, UK david.lynch2@nhs.net.

Practical Neurology
|May 22, 2020
PubMed
Summary

Diagnosing white matter disorders requires a systematic approach, integrating clinical, radiological, and genetic assessments. Early identification of treatable acquired causes is crucial for effective patient management.

Keywords:
ADRENOLEUKODYSTROPHYALZHEIMERS DISEASECLINICAL NEUROLOGYDEMENTIAEPILEPSYGENETICSMETABOLIC DISEASEMRIMULTIPLE SCLEROSISNEUROGENETICSNEURORADIOLOGY

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Area of Science:

  • Neuroscience
  • Genetics
  • Radiology

Background:

  • White matter disorders encompass a broad spectrum of genetic and acquired conditions.
  • These disorders often present with overlapping clinical and radiological features, including cognitive impairment and movement abnormalities.

Observation:

  • Diagnosis necessitates a multidisciplinary approach combining clinical evaluation, advanced imaging, metabolic testing, and genetic analysis.
  • Distinguishing between genetic and acquired etiologies is critical, as some acquired forms are treatable.

Findings:

  • This review outlines a practical diagnostic strategy for white matter disorders.
  • It is based on extensive experience from an international referral center, offering guidance on potential pitfalls and essential clinical insights.

Implications:

  • Provides a valuable resource for clinicians managing patients with complex white matter diseases.
  • Aims to improve diagnostic accuracy and timely intervention for both genetic and acquired white matter conditions.