New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the journal Nature Immunology on June 26, 2025, titled "Mutations in the human CSF1R gene impact microglia’s maintenance of brain white matter integrity."
Read the paper here.
Learn more about GLIA-CTN.
Transcript:
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN), a research group of the Rare Diseases Clinical Research Network.
Examining the Molecular Mechanisms of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia.
This summary is based on a paper published in the journal Nature Immunology on June 26, 2025.
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a neurodegenerative disorder that affects the white matter of the brain. ALSP is caused by mutations in the CSF1R gene, which provides instructions for making a protein called the colony-stimulating factor 1 receptor (CSF1R). This protein plays a crucial role in the growth and survival of immune cells in the brain called microglia.
In this study, researchers examined the molecular mechanisms of ALSP. The team performed single-nucleus RNA sequencing on brain specimens with and without ALSP.
Results revealed distinctive characteristics of ALSP brains, including significantly lower amounts of microglia and impaired maintenance of brain white matter. Authors note that these findings highlight potential therapeutic strategies for ALSP and other genetically caused microgliopathies.
Read the paper here.
Learn more about GLIA-CTN.
Transcript:
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN), a research group of the Rare Diseases Clinical Research Network.
Examining the Molecular Mechanisms of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia.
This summary is based on a paper published in the journal Nature Immunology on June 26, 2025.
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a neurodegenerative disorder that affects the white matter of the brain. ALSP is caused by mutations in the CSF1R gene, which provides instructions for making a protein called the colony-stimulating factor 1 receptor (CSF1R). This protein plays a crucial role in the growth and survival of immune cells in the brain called microglia.
In this study, researchers examined the molecular mechanisms of ALSP. The team performed single-nucleus RNA sequencing on brain specimens with and without ALSP.
Results revealed distinctive characteristics of ALSP brains, including significantly lower amounts of microglia and impaired maintenance of brain white matter. Authors note that these findings highlight potential therapeutic strategies for ALSP and other genetically caused microgliopathies.
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