UCL Queen Square Institute of Neurology


Batten Disease

Medline NLM definition: a heritable lipidosis with cytoplasmic inclusions staining for ceroid and lipofuscin. Clinically the patient has progressive dementia, retinal degeneration, seizures, and myoclonic jerks. It was formerly thought to be related to Tay-Sachs disease but the biochemical defect is as yet undetermined. Named according to age of onset: Jansky-Bielschowsky disease, 2-4 years; Batten-Spielmeyer-Vogt disease, 5-11 years; and Kufs disease, adult.

PubMed Medline search on Batten disease

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

Also known as Neuronal Ceroid-Lipofuscinosis

Support Group

Batten Disease Family Association (BDFA)
A national charity which aims to support families, raise awareness and facilitate research into the group of neurodegenerative diseases commonly known as Batten 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.

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.