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Leukodystrophy

Leukodystrophy, Globoid Cell Medline NLM definition: An inherited metabolic disorder of the nervous system, particularly the white matter. It is characterized histologically by a paucity of myelin and oligodendroglia, severe astrocytic gliosis, and massive infiltration with unique multinucleated globoid cells which are enriched in galactosylceramide. The primary genetic defect is a deficiency of GALACTOSYLCERAMIDASE.

Leukodystrophy, metachromatic Medline NLM definition: A sphingolipidosis where there is defective desulfation of galactosyl-3-sulfate ceramide due to a defective enzyme cerebroside sulfatase (arylsulfatase A). The result is an accumulation of sulfatide in neural and non-neural tissues which manifests as mental deterioration and severe disturbances of the central nervous system.

Leukodystrophy: factsheet from NINDS, the National Institute of Neurological Disorders and Stroke (US site)

Leukodystrophy: information from NORD, the National Organization for Rare Disorders (US site)

PubMed Medline search on Leukodystrophy

Support Groups

Metabolic Support UK
Metabolic Support UK (formerly known as Climb - Children Living with Inherited Metabolic Diseases) are the leading patient organisation for Inherited Metabolic Disorders supporting thousands of patients worldwide.

The Myelin Project
The Myelin Project is an international scientific research organization aimed at accelerating clinical and translational research focused on Myelin repair.

United Mitochondrial Disease Foundation
This US based organisation aims to promote research for cures and treatments of mitochondrial diseases and to provide support to affected families. Gives information on mitochondrial diseases, funds research, gives support and advice to affected families. Also gives an extensive list of links to other sites of interest. (US site)

United Leukodystrophy Foundation
This is a US based non-profit, voluntary health organization dedicated to providing patients and their families with information about their disease and assistance in identifying sources of medical care, social services, and genetic counselling; establishing a communication network among families; increasing public awareness and acting as an information source for health care providers; and promoting and supporting research into causes, treatments, and prevention of the leukodystrophies. Website has access to publications, chat-rooms, current research and conferences. (US site)

Brain and Spine Foundation
Information on living with a neurological condition and on diagnosis. There are publications and resources. The useful glossary of neurological conditions (under 'Information and support') includes links to some other organisations as well as to Brain and Spine Foundation information.

Healthtalk: nerves and brain
Personal experiences of people living with various neurological conditions.

Neurological Alliance
Collective voice for 80 organisations, including stroke and brain injury. Organisations are listed at https://www.neural.org.uk/our-members/, a good place to start if looking for information on those conditions. Site also includes information about living with a neurological condition, a glossary, and information about onset and diagnosis as well as a small set of real life stories.

NHS Inform: brain, nerves and spinal cord 
NHS inform is Scotland's national health information service, with the aim of providing the people in Scotland with accurate and relevant information to help them make informed decisions about their own health and the health of the people they care for.

 

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