Leukodystrophies
The Leukodystophies Disease Knowledge Page provides reference information on care of Leukodystrophies.
Disease Knowledge Documents
Information and knowledge that has been developed or endorsed by ERN-RND can be found in blue boxes.
Defintion
ERN-RND Centres for Leukodystrophies
Care Standards
Available in many European languages.
Clinical Rating Scale
Gross-Motor Function Classification for Metachromatic Leukodystrophie (GMFC-MLD)
Online Medical Education
Leukodystrophy
- State of the art of clinical stage gene therapies for Leukodystrophies by Caroline Sevin
- Newborn Screening in Leukodystrophies by Lucia Laugwitz
- Introduction to leukodystrophies by Nicole Wolf
- X-linked adrenoleukodystrophy by Marc Engelen
- X-linked adrenoleukodystrophies – update (paediatric focus) by Caroline Sevin
- Pelizaeus-Merzbacher disease and related disorders by Nicole Wolf
- Update metachromatic leukodystrophy by Samuel Gröschel & Ingeborg Krägeloh-Mann
- Adult leukodystrophies – early symptoms of late onset leukodystrophies by Fanny Mochel
- Hypomyelination by Nicole Wolf
- MRI pattern recognition in leukodystrophies by Nicole Wolf
- Treatment of spasticity in HSP & leukodystrophies by Annemieke Buizer
Cross-cutting thematic areas
- Patient Journeys: Reliable Comprehensive Documents which Summarise a Rare Disease by Petya Mihaylova & Mary Kearney
- The Importance of Genetic Counselling in the Diagnostic of Rare Neurological Disorders by Maria Judit Molnar
Children’s Book: When my brother got ill. A story of Adrenoleukodystrophy (ALD)
This children’s book was developed by “Alex – the Leukodystrophy Charity”, located in the UK. You can read the book online for free or order a hard copy.
Information for Patients
Please note that this section includes useful information from a variety of sources provided by ERN-RND members but which hasn’t been endorsed by ERN-RND.
- Paediatric
- Video on Genetics and Inheritance
Patient Organisations
Clinical Studies and Trials
Patient Registries (to which ERN-RND members contribute)
Leukodystrophies patient registries
Clinical Studies and Trials
