Familial Danish dementia
| Familial Danish dementia | |
|---|---|
| Other names | FDD, ADan amyloidosis, Heredopathia ophthalmootoencephalica, HOOE, ITM2B amyloidosis, Cerebellar ataxia, cataract, deafness, and dementia or psychosis |
| Specialty | Neurology |
| Symptoms | Cataracts, Deafness, Progressive ataxia, Dementia, |
| Usual onset | 20-30 years old |
| Causes | Mutations of the BRI2 gene |
| Diagnostic method | Family history, symptoms, and genetic testing |
Familial Danish dementia is an extremely rare, neurodegenerative disease characterized by progressive cataracts, loss of hearing, cerebellar ataxia, paranoid psychosis, and dementia. Neuropathological hallmarks include extensive atrophy of all areas of the brain, chronic diffuse encephalopathy, and the presence of exceedingly thin and nearly totally demyelinated cranial nerves.
FDD is an autosomal dominant disorder caused by a mutation in the BRI2 gene on chromosome 13. FDD is one of the two types of hereditary, cerebral amyloid angiopathy, alongside familial British dementia.