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Leigh Syndrome https://www.researchgate.net/publication/390214734_Adult-onset_Leigh_syndrome_with_recurrent_seizures_and_peripheral_neuropathy_due_to_the_9176T_C_mutation_a_case_report_and_literature_review Leigh syndrome is a rare, progressive neurodegenerative disorder primarily associated with mitochondrial dysfunction. It is most commonly diagnosed in infancy or early childhood and results from defects in mitochondrial oxidative phosphorylation, which affects cellular energy (ATP) production. The condition is typically caused by mutations in either mitochondrial DNA (mtDNA) or nuclear genes […]

Krabbe Disease https://www.cell.com/immunity/abstract/S1074-7613(25)00138-4 Globoid Cell Leukodystrophy (GLD) or Krabbe disease is a progressive neurodegenerative disease caused by a faulty GALC gene. Key disease hallmarks are the aggregation of the brain’s immune cells, called microglia, into globoid cells (GC) and the build-up of a toxic substance called psychosine. In this article, researchers used a mouse model […]

Krabbe Disease https://www.cell.com/molecular-cell/abstract/S1097-2765(25)00201-1 Lysosomes are vital components of our cells that act like recycling centres to break down and reuse cellular waste. When lysosomes are damaged or not working properly, toxic materials can build up, resulting in a group of rare but serious conditions known as lysosomal storage disorders (LSDs), many of which affect the […]

Alexander Disease https://pmc.ncbi.nlm.nih.gov/articles/PMC11915002 Alexander disease (AxD) is a rare and severe neurological disorder caused by mutations in the Glial Fibrillary Acidic Protein (GFAP) gene, resulting in a genetically dominant disease. These mutations disrupt the function of astrocytes (support cells in the brain) leading to white matter degeneration, accumulation of abnormal protein aggregates, and progressive neurological […]

Research summary of recent leukodystrophy research and clinical trials, includes article summaries and direct links to websites and articles. To access the summary: Research Summary – April 2025 Please be aware these summaries are produced voluntarily by Biomedical Science students and are their interpretations of the information and findings. This information is reviewed by our […]

Metachromatic Leukodystrophy (MLD) https://www.cell.com/molecular-therapy-family/nucleic-acids/fulltext/S2162-2531(25)00018-6?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS2162253125000186%3Fshowall%3Dtrue Metachromatic Leukodystrophy (MLD) is caused by a faulty ARSA gene. The current approved gene therapy, called atidarsagene autotemcel, works by inserting several healthy copies of the ARSA gene into the patient’s own cells using a lentiviral vector. The efficacy and safety of this treatment depends on the number of copies (VCN […]

Krabbe Disease https://www.nature.com/articles/s41598-024-82927-1# Krabbe disease (KD) is a rare and inherited disorder that affects the nervous system. It is caused by a lack of a crucial enzyme called galactosylceramidase (GALC), which leads to the build-up of a toxic substance known as psychosine. This accumulation damages the cells that produce myelin—the protective coating around nerves—leading to […]

GM2 Gangliosidosis https://link.springer.com/article/10.1007/s11011-025-01553-6 Tay–Sachs disease (TSD) also known as GM2 gangliosidosis is a rare genetic condition in which harmful levels of a substance called GM2 ganglioside build up in the brain, leading to nerve cell damage and severe neurological symptoms. This damage is closely linked to inflammation in the brain caused by overactive immune cells. […]

D-Bifunctional Protein Deficiency https://www.nature.com/articles/s41467-025-57793-8 Peroxisomes are intracellular organelles that are involved in many key functions, including i) the production of acetyl-CoA, one of the major energy sources in the cell, via HSDB17BA (or D-bifunctional protein), and ii) cilia formation, a sensory organelle at the cell surface which is involved in various major cellular processes. Interestingly, […]

Alexander Disease https://www.eneuro.org/content/eneuro/early/2025/03/05/ENEURO.0504-24.2025.full.pdf Alexander Disease (AxD) is neuropathologically characterised by Rosenthal fibres (GFAP protein accumulation in astrocytes) and clinically evaluated with motor and cognitive deficits. However, how these hallmarks are linked to each other remains unclear. In the present study, researchers developed a novel rat model of AxD, called R237H, to investigate neuronal dysfunctions and […]

Adult-onset Autosomal Dominant Leukodystrophy (ADLD) https://www.frontiersin.org/journals/neuroscience/articles/10.3389/fnins.2025.1531593/full This article is a literature review summarizing the characteristics of 8 Chinese patients (7 families) with ADLD and documenting early clinical and imaging identification of the disease. In five patients, the first reported signs were autonomic abnormalities (bladder dysfunction, constipation, etc) followed by slowly progressing motor symptoms (limb weakness, […]

Adult-onset Autosomal Dominant Leukodystrophy (ADLD) https://www.nature.com/articles/s41598-025-91546-3# Autosomal Dominant Leukodystrophy (ADLD) is a rare adult-onset neurological disorder caused by duplication of the LMNB1 gene, which leads to excessive production of the lamin B1 protein. Lamin B1 plays a structural role in the cell nucleus, and its overexpression disrupts normal brain cell function, resulting in progressive demyelination—the […]