Research

Atypical Presentation of MLD Without White Matter Changes

Research / March 7, 2025

Atypical Presentation of Metachromatic Leukodystrophy (MLD) Without White Matter Changes A recent case study published in Neurology International “Metachromatic Leukodystrophy Presenting with Multiple Cranial Nerve and Lumbosacral Nerve Root Enhancement Without White Matter Changes” highlights an unusual presentation of Metachromatic Leukodystrophy (MLD), a rare autosomal recessive disorder characterized by demyelination in both the central and …

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STUDY: Rescue of in vitro models of CSF1R-related adult-onset leukodystrophy by iluzanebart: mechanisms and therapeutic implications of TREM2 agonism

News, Research / February 19, 2025

Understanding CSF1R-Related Leukodystrophy and a Potential New Treatment: Iluzanebart This study titled Rescue of in vitro models of CSF1R-related adult-onset leukodystrophy by iluzanebart: mechanisms and therapeutic implications of TREM2 agonism and published by Journal of Neuroinflammation, explores CSF1R-related adult-onset leukodystrophy with axonal spheroids and pigmented glia (CSF1R-ALSP), a rare neurodegenerative disease caused by mutations in …

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FDA Approves First Treatment for CTX, a Rare Lipid Storage Disease

News, Research / February 21, 2025

PRESS RELEASE: FDA Approves First Treatment for Cerebrotendinous Xanthomatosis, a Rare Lipid Storage Disease The U.S. Food and Drug Administration (FDA) has approved Ctexli (chenodiol) as the first treatment for cerebrotendinous xanthomatosis (CTX), a rare lipid storage disorder. CTX is a genetic condition caused by mutations in the CYP27A1 gene, leading to improper cholesterol breakdown …

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STUDY: The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy

News, Research / February 19, 2025

Understanding TUBB4A-Related Leukodystrophy in Children: A Study on Disease Progression and Symptoms This study titled The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy and published in Molecular Genetics and Metabolism, focuses on TUBB4A-related leukodystrophy, a rare genetic disorder that affects the brain’s white matter (the part of the brain responsible for communication between …

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Study: Impaired Peroxisomal Beta-Oxidation in Microglia Triggers Oxidative Stress and Impacts Neurons and Oligodendrocytes

News, Research / February 19, 2025

Research Summary: Impaired Peroxisomal Beta-Oxidation in Microglia Triggers Oxidative Stress and Impacts Neurons and Oligodendrocytes In this study, titled Impaired Peroxisomal Beta-Oxidation in Microglia Triggers Oxidative Stress and Impacts Neurons and Oligodendrocytes, and publshed by Frontiers in Molecular Neuroscience, investigates how dysfunction in peroxisomes — small cell structures that break down fatty acids — affects …

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Study: Progression of Spinal Cord Disease in Adult Men With ALD

Research / January 22, 2025

The article, Progression of Spinal Cord Disease in Adult Men with Adrenoleukodystrophy, details the results of a long-term study on the progression of spinal cord disease in adult men with ALD. The study, which followed 79 patients over seven years, used clinical tools like the EDSS, SSPROM, and 6MWT to measure disease progression. It showed …

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Lentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile MLD: a long-term follow-up pilot study

Research / January 22, 2025

The study “Lentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile metachromatic leukodystrophy: a long-term follow-up pilot study” investigates a pioneering treatment for juvenile metachromatic leukodystrophy (MLD), a rare, inherited neurological disorder caused by a deficiency in the ARSA enzyme. This enzyme deficiency leads to the toxic accumulation of sulfatides, causing progressive demyelination (damage …

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Analysis of GFAP Variants in UK Biobank Suggests Underdiagnosis or Incomplete Penetrance of Adult-Onset Alexander Disease

Research / December 18, 2024

The article “Analysis of GFAP Variants in UK Biobank Suggests Underdiagnosis or Incomplete Penetrance of Adult-Onset Alexander Disease” investigates the prevalence and clinical significance of mutations in the GFAP gene, which are linked to Alexander disease. This rare neurodegenerative disorder affects the white matter of the central nervous system, leading to a progressive decline in …

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Vanishing White Matter Disease in Children: An Unusual Association, a Novel Mutation, and a Literature Review

Research / December 18, 2024

The article “Vanishing White Matter Disease in Children: An Unusual Association, a Novel Mutation, and a Literature Review” explores Vanishing White Matter Disease (VWMD), a rare genetic disorder that affects the brain’s white matter. This study presents a case involving a novel genetic mutation, contributing to the understanding of the disease’s complexity. VWMD is caused …

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A novel homozygous PSAP mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report

Research / December 12, 2024

The article “A novel homozygous PSAP mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report” describes a rare genetic mutation linked to metachromatic leukodystrophy (MLD), a devastating lysosomal storage disorder. Here’s an explanation of the study and its significance: What is Metachromatic Leukodystrophy (MLD)? MLD is a genetic …

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