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

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Early pathologic changes in hereditary diffuse leukoencephalopathy with spheroids.

Yuichi Riku¹, Takashi Ando, Yoji Goto

¹From the Department of Neurology, Nagoya University Graduate School of Medicine (YR, GS), Aichi, Japan; and Department of Neurology, Nagoya Daiichi Red Cross Hospital (TA, YG, KM), Aichi, Japan; and Institute for Medical Science of Aging, Aichi Medical University (YI, MY), Aichi, Japan.

Journal of Neuropathology and Experimental Neurology

|November 11, 2014

Summary

This summary is machine-generated.

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) early pathology shows multifocal subcortical white matter lesions. Pigmented microglia with poor CSF1R expression precede axonal damage in this neurodegenerative disease.

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Area of Science:

Neuroscience
Genetics
Pathology

Background:

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare familial neurodegenerative disorder.
Clinical features include progressive cognitive and motor decline.
CSF1R gene mutations are linked to HDLS, but early pathological changes remain unclear.

Observation:

A Japanese family with HDLS was studied, identifying a novel CSF1R mutation.
Postmortem examination of a neurologically asymptomatic sister revealed early pathological signs.
Findings included patchy axonal degeneration and myelin loss in the subcortical white matter.

Findings:

Early HDLS pathology is characterized by multifocal lesions in subcortical white matter.
Pigmented microglia diffusely infiltrate the white matter and exhibit reduced CSF1R expression.
These microglial changes precede overt axonal damage and myelin loss.

Implications:

This study provides crucial insights into the early pathological mechanisms of HDLS.
Understanding early changes can aid in developing diagnostic markers and therapeutic strategies.
The findings highlight the role of CSF1R-expressing microglia in HDLS pathogenesis.