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Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics.

Carmen Stabile¹, Ilaria Taglia¹, Carla Battisti^1,2

¹Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

|June 25, 2016

Summary

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare genetic brain disorder. Mutations in the colony-stimulating factor 1 receptor (CSF1R) gene cause this condition, leading to neuroaxonal spheroids.

Keywords:

CSF-1R mutations HDLS Leukoencephalopathy Spheroids

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Area of Science:

Neuroscience
Genetics
Pathology

Background:

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare autosomal dominant neurological disorder.
It is characterized by the accumulation of giant neuroaxonal swellings (spheroids) in the brain's white matter.
Clinical manifestations are diverse, encompassing cognitive, mental, and motor impairments.

Purpose of the Study:

To review and consolidate existing literature data on the molecular genetic landscape of HDLS.
To provide a comprehensive overview of reported genetic variants associated with HDLS.
To highlight the crucial role of the colony-stimulating factor 1 receptor (CSF1R) gene in HDLS pathogenesis.

Main Methods:

Literature review of published studies on HDLS molecular genetics.
Analysis of reported mutations within the CSF1R gene.
Compilation of genetic variant data, including mutation types and locations.

Main Results:

Over 50 pathogenic variants in the CSF1R gene have been identified in HDLS patients.
These variants are predominantly located in the intracellular tyrosine kinase domain (exons 12-22).
Reported mutations include missense, frameshift, nonsense, deletions, and splice-site alterations.

Conclusions:

Mutations in the CSF1R gene are the primary cause of HDLS.
The identified variants disrupt the function of a key receptor essential for microglia development.
Understanding the molecular genetic pattern of HDLS is crucial for diagnosis and potential therapeutic strategies.