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

The symptoms of Familial British dementia typically begin in mid-adulthood and progress slowly over the course of several years. They include:

• Progressive dementia
• Spasticity
• Ataxia
• Aphasia
• Myoclonus
• Seizures

Causes

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

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

There is currently no cure for Familial British dementia. Treatment is supportive and aimed at managing symptoms.

See also

• Dementia
• BRI2
• Autosomal dominant

References

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