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GTR Home > Conditions/Phenotypes > ABri amyloidosis

ABri amyloidosis

Synonyms
CEREBRAL AMYLOID ANGIOPATHY, BRITISH TYPE; CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1; Dementia familial British; PRESENILE DEMENTIA WITH SPASTIC ATAXIA
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

ITM2B-related cerebral amyloid angiopathy-1, also known as familial British dementia (FBD), is an autosomal dominant neurodegenerative disorder characterized by progressive dementia, spasticity, and cerebellar ataxia, with onset at around the fifth decade of life. Cerebral amyloid angiopathy, nonneuritic and perivascular plaques, and neurofibrillary tangles are the predominant pathological lesions (summary by Vidal et al., 1999). [from OMIM]

Available tests

23 tests are in the database for this condition.

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Clinical tests (23 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABRI, BRI, BRI2, BRICD2B, E25B, E3-16, FBD, RDGCA, imBRI2, ITM2B
    Summary: integral membrane protein 2B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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