Familial British dementia
Familial British dementia (FBD) is a rare form of dementia that is inherited in an autosomal dominant manner. It is characterized by progressive dementia, spasticity, and ataxia. The disease is caused by a mutation in the BRI2 gene.
Symptoms[edit | edit source]
The symptoms of Familial British dementia typically begin in mid-adulthood and progress slowly over the course of several years. They include:
Causes[edit | edit source]
Familial British dementia is caused by a mutation in the BRI2 gene. This gene provides instructions for making a protein that is found in many tissues, including the brain. The exact function of this protein is not known, but it is thought to play a role in the normal functioning of nerve cells (neurons).
Diagnosis[edit | edit source]
Diagnosis of Familial British dementia is based on the presence of characteristic clinical features and a family history of the disease. Genetic testing can confirm the diagnosis.
Treatment[edit | edit source]
There is currently no cure for Familial British dementia. Treatment is supportive and aimed at managing symptoms.
See also[edit | edit source]
References[edit | edit source]
Familial British dementia Resources | ||
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