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Updated: May 7, 2026

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

Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids.

Yuka Terasawa¹, Yusuke Osaki, Toshitaka Kawarai

¹Department of Clinical Neuroscience, Institute of Health Biosciences, Graduate School of Medicine, The University of Tokushima, Tokushima, Japan.

Journal of the Neurological Sciences

|October 8, 2013

Summary

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) can be diagnosed early using distinctive MRI findings. A novel CSF1R mutation was identified in a patient with progressive cognitive decline.

Keywords:

Colony stimulating factor 1 receptor (CSF1R)Diagnosis Diffusion-weighted imaging (DWI)Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS)Magnetic resonance imaging (MRI)dJuvenile dementia

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Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases

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Longitudinal In Vivo Imaging of the Cerebrovasculature: Relevance to CNS Diseases

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Published on: December 6, 2016

Area of Science:

Neuroscience
Genetics
Radiology

Background:

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare neurodegenerative disorder.
Early diagnosis is crucial for managing progressive cognitive decline.

Observation:

A 52-year-old woman presented with an 18-month history of progressive cognitive decline and a family history of juvenile dementia.
Brain MRI revealed increasing white matter hyperintensities on diffusion-weighted images and linear high-intensity signals along axonal fibers.
Brain CT scan showed subcortical calcifications.

Findings:

Genetic analysis identified a novel missense mutation c.2467C>T (p.Ala823Val) in the CSF1R gene.
Persistent and increasing diffusion on MRI, likely indicating intramyelinic edema, was a distinctive feature.

Implications:

The unique MRI findings, particularly persistent diffusion changes, can serve as an early diagnostic clue for HDLS.
Identification of a novel CSF1R mutation expands the genetic understanding of HDLS.
This case highlights the importance of integrating advanced neuroimaging and genetic analysis for diagnosing rare neurological disorders.