Leukodystrophies

Leukodystrophies and genetically determined leukoencephalopathies are a group of rare, typically neurodegenerative genetic diseases caused by abnormalities in myelin or white matter, which is involved in protecting neurons, or nerve cells, and ensures the rapid conduction of nerve impulses.

They can be split into 2 groups: hypomyelinating (insufficient myelin deposition during development) and non-hypomyelinating (altered myelin homeostasis) leukodystrophies.

Many different kinds of leukodystrophy exist, caused by variations in different genes and although each form is individually rare, collectively leukodystrophies affect approximately 1 in 4733 live births (Soderholm et al., 2020). They primarily affect children, leading to progressive disability and death, months to years following onset.

With no available treatments and an estimated 20-30% of patients without a precise diagnosis despite extensive clinical testing, much work is still needed. Finding the cause of these diseases, the faulty gene, is the first step towards finding a cure.