Medline NLM definition: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) Year introduced: 2000
PubMed Medline search on Pelizaeus-Merzbacher Disease
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.
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.
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.