Leukodystrophy News and Research

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Leukodystrophies are inherited disorders that are characterized by a progressive breakdown (demyelination or hypomyelination) of the white matter in the central nervous system, caused by different mechanisms involving myelin proteins, as well as lipid and organic acid metabolism. They have to be distinguished from the “umbrella” term leukoencephalopathy, which is used to delineate any disease of the white matter.

Gene defect underlying Krabbe disease causes degeneration of neurons directly, study finds

The gene defect underlying Krabbe disease causes degeneration of neurons directly, independent of its effects on other cell types, according to a new study publishing July 5th in the open-access journal PLOS Biology by Daesung Shin of the University at Buffalo, U.S. and colleagues.

5 Jul 2022

Researchers discover how pre-transplant chemotherapy facilitates the replacement of microglial cells

More than 50,000 bone marrow-derived stem cell transplants are performed worldwide each year to treat a wide range of conditions, including brain diseases.

21 Feb 2022

Study involving a rat model offers potential treatment for Alexander disease

Alexander disease is a progressive and rare neurological disorder with no cure or standard course of treatment. But a new study led by researchers at the University of Wisconsin–Madison involving a rat model of the disease offers a potential treatment for the typically fatal condition.

18 Nov 2021

Protein alteration contributes to degeneration of neuronal populations in Huntington's disease

Protein alteration in the family of lamins causes several diseases, known as laminopathies, such as progeria or precocious aging.

1 Feb 2021

Scientists identify new genetic cause of syndromic microcephaly

Greenwood Genetic Center researchers, in collaboration with scientists from Belgium, Spain, and Italy, have confirmed that variants in LMNB1 cause syndromic microcephaly with variable short stature, intellectual disability, and other neurological symptoms.

17 Sep 2020

Study offers hope for treatment of Krabbe disease

In one out of 100,000 infants, a mutation in the GALC gene causes an incurable, always fatal disorder known as infantile Krabbe disease, or globoid cell leukodystrophy. Most children with the condition die before they turn 2.

26 Aug 2020

Umbilical cord blood safely and effectively treats children with rare genetic disorders

Researchers at UPMC Children's Hospital of Pittsburgh found that infusing umbilical cord blood - a readily available source of stem cells - safely and effectively treated 44 children born with various non-cancerous genetic disorders, including sickle cell, thalassemia, Hunter syndrome, Krabbe disease, metachromatic leukodystrophy (MLD) and an array of immune deficiencies.

14 Jul 2020

Researchers make breakthrough in understanding cause of rare childhood brain disorders

A new breakthrough in understanding the cause of rare childhood brain disorders has been made by researchers at the University of Sheffield.

27 Apr 2020

Researchers discover molecular underpinnings of Alexander disease

Scientists have known that genetic mutations leading to the production of a defective protein called GFAP cause Alexander disease (AxD), a debilitating neurodegenerative condition that can present during infancy, adolescence, or adulthood.

21 Nov 2019

NIH grants boost rare diseases research efforts

Of an estimated 6,500 to 7,000 known rare diseases, only a fraction - maybe 5% - have U.S. Food and Drug Administration-approved treatments.

4 Oct 2019

Scientists uncover the cause of a rare fatal nerve disease

A new study has revealed the cause of Pelizaeus-Merzbacher syndrome and how simply adding a chemical that binds to iron, so it can be removed from the cell, enables the sick cells to grow back.

4 Oct 2019

Scientists pinpoint cause of fatal genetic disorder in children

Scientists at Washington University School of Medicine in St. Louis appear to have solved a decades-long mystery regarding the precise biochemical pathway leading to a fatal genetic disorder in children that results in seizures, developmental regression and death, usually around age 3.

17 Sep 2019

Novel palliative care approach for caregivers of children with rare diseases shows preliminary success

A novel palliative care intervention developed at Children's National Health System for caregivers of children and adolescents with rare diseases has shown preliminary success at helping families talk about potentially challenging medical decisions before a crisis occurs.

1 Aug 2019

New, more efficient method for generating brain stem cells in the lab

In two newly published papers, a scientific team at Case Western Reserve University School of Medicine reports on the discovery and implementation of a new, more efficient method for generating an important brain stem cell in the laboratory.

1 Oct 2018

Salk research in yeast leads to serendipitous finding about hypomyelinating leukodystrophy

Studying the fundamental aspects of biology can sometimes lead to unexpected findings that directly relate to human disease. In one of the latest examples of scientific serendipity, researchers from the Salk Institute found that an important quality control mechanism in baker's yeast is closely connected to hypomyelinating leukodystrophy, a debilitating disease found in children.

17 Sep 2018

Gene therapy effectively stabilizes progression of cerebral adrenoleukodystrophy, trial reveals

In a recent clinical trial, a gene therapy to treat cerebral adrenoleukodystrophy (CALD) -- a neurodegenerative disease that typically claims young boys' lives within 10 years of diagnosis -- effectively stabilized the disease's progression in 88 percent of patients, researchers from the Dana-Farber/Boston Children's Cancer and Blood Disorders Center and Massachusetts General Hospital report today.

4 Oct 2017

Wayne State researchers receive $1.9 million NIH grant to better understand rare genetic disorders

A team of Wayne State University researchers recently received a $1.9 million grant from the National Eye Institute of the National Institutes of Health to better understand leukodystrophies (LD) and genetic Leukoencephalopathies (gLE), rare genetic disorders affecting the white matter -- myelin -- in the central nervous system.

21 Jul 2017

Leukodystrophy News and Research

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