Leukodystrophy Latest Advances

Find the Latest Research About Leukodystrophy

Last Updated: 04/28/2026

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Found 2113 publications

Adult-Onset Leukodystrophies Mimicking Multiple Sclerosis.

Adult-Onset Leukodystrophies Mimicking Multiple Sclerosis.

Journal: Continuum (Minneapolis, Minn.)

Published: April 02, 2026

Tembleque (SDtq) rat: A new model of leukodystrophy associated with hypomyelination and impaired oligodendrocyte maturation.

Tembleque (SDtq) rat: A new model of leukodystrophy associated with hypomyelination and impaired oligodendrocyte maturation.

Journal: Laboratory animals

Published: March 31, 2026

Recessive PPTC7 deficiency triggers excessive mitophagy to cause a severe inborn error of metabolism with hypomyelinating leukodystrophy.

Recessive PPTC7 deficiency triggers excessive mitophagy to cause a severe inborn error of metabolism with hypomyelinating leukodystrophy.

Journal: Research square

Published: February 27, 2026

Novel NDUFV1 variant in progressive cavitating leukodystrophy with microcephaly: a case report.

Novel NDUFV1 variant in progressive cavitating leukodystrophy with microcephaly: a case report.

Journal: BMC pediatrics

Published: February 12, 2026

Correction to: A loss of function mutation in CLDN25 causing Pelizaeus-Merzbacher-like leukodystrophy.

Correction to: A loss of function mutation in CLDN25 causing Pelizaeus-Merzbacher-like leukodystrophy.

Journal: Human molecular genetics

Published: January 05, 2026

Design of a Pediatric Low Motor Function Item Battery in leukodystrophies.

Design of a Pediatric Low Motor Function Item Battery in leukodystrophies.

Journal: Molecular genetics and metabolism

Published: December 09, 2025

Generation of an isogenic human induced pluripotent stem cell line harbouring a CLDN11 mutation associated with hypomyelinating leukodystrophy.

Generation of an isogenic human induced pluripotent stem cell line harbouring a CLDN11 mutation associated with hypomyelinating leukodystrophy.

Journal: Stem cell research

Published: December 09, 2025

Juvenile Metachromatic Leukodystrophy in a Seven-Year-Old Child With a Familial History: A Case Report Suggesting Saposin B Deficiency.

Juvenile Metachromatic Leukodystrophy in a Seven-Year-Old Child With a Familial History: A Case Report Suggesting Saposin B Deficiency.

Journal: Cureus

Published: December 03, 2025

Longitudinal MRI-based changes in intracranial volume and skull thickness observed in both metachromatic leukodystrophy and multiple sclerosis.

Longitudinal MRI-based changes in intracranial volume and skull thickness observed in both metachromatic leukodystrophy and multiple sclerosis.

Journal: NeuroImage. Clinical

Published: November 24, 2025

Durable Global Correction of CNS and PNS and Lifespan Rescue in Murine Globoid Cell Leukodystrophy via AAV9-Mediated Monotherapy.

Durable Global Correction of CNS and PNS and Lifespan Rescue in Murine Globoid Cell Leukodystrophy via AAV9-Mediated Monotherapy.

Journal: Cells

Published: November 18, 2025

Spatially resolved lipids in a mouse brain model of globoid cell leukodystrophy via IR-MALDESI MSI and parallel reaction monitoring MSI.

Spatially resolved lipids in a mouse brain model of globoid cell leukodystrophy via IR-MALDESI MSI and parallel reaction monitoring MSI.

Journal: Analytical and bioanalytical chemistry

Published: November 17, 2025

Glial Ion Channels in Myelin Pathophysiology: Insights from Leukodystrophies.

Glial Ion Channels in Myelin Pathophysiology: Insights from Leukodystrophies.

Journal: Life (Basel, Switzerland)

Published: November 14, 2025

Showing 1-12 of 2,113

Last Updated: 04/28/2026