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Updated: Jun 20, 2026
07:45
An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
Characteristic MRI pattern in LMNB1-related autosomal dominant leukodystrophy: a case report
Yu-Xin Wang1, Tong Du1,2,3, Chun-Lin Yang1,2,3
1Department of Neurology, The First Affiliated Hospital of Shandong First Medical University and Shandong Provincial Qianfoshan Hospital, Jinan, China.
Frontiers in Neuroscience
|June 19, 2026
Summary
Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare white matter disorder. This case highlights characteristic MRI findings, including the "Beagle sign," aiding in ADLD diagnosis.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Adult-onset autosomal dominant leukodystrophy (ADLD) is an ultra-rare inherited white matter disorder.
- It is caused by variants in the Lamin B1 (LMNB1) gene.
- Early recognition and differential diagnosis are crucial for patient management.
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