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familial British dementia (cerebral amyloid angiopathy ITM2B-related type 1, CAA-ITM2B1)
dementing illness similar to Alzheimer's disease.
Epidemiology:
- autosomal dominant in a British kindred.
- age of onset in fourth to fifth decade.
Microscopic Pathology:
- ABri amyloid deposition
- severe & widespread amyloid angiopathy in brain & spinal cord with perivascular plaque formation
- neuritic & non-neuritic amyloid plaques
- periventricular white matter changes
- neurofibrillary tangles predominantly in limbic structures
- amyloid deposition in blood vessels also seen in:
a) pancreas
b) adrenal gland
c) lung
d) myocardium
e) liver
f) spleen
g) skeletal muscle
- parenchymal amyloid deposits also seen in:
a) pancreas
b) adrenal gland
c) myocardium
d) skeletal muscle
Genetics:
- point mutation at stop codon in the ITM2B gene results in a 277 aa residue peptide (normal 266 aa), of which release of the 34 C-terminal amino acids generates amyloid - designated ABri
Clinical manifestations:
- progressive dementia
- spastic tetraparesis
- cerebellar ataxia
- increased muscle tone
- increased deep tendon reflexes
- no tremor
- no sensory changes
Interactions
disease interactions
General
cerebral amyloid angiopathy (CAA)
dementia; Alzheimer's disease & related dementias (ADRD)
genetic disease of the central nervous system
neurodegenerative disease
Database Correlations
OMIM correlations
MORBIDMAP 603904
References
- Vidal R et al
Sequence, genomic structure and tissue expression of Human
BRI3, a member of the BRI gene family.
Gene. 2001 Mar 21;266(1-2):95-102.
PMID: 11290423
- Ghiso JA, Holton J, Miravalle L, Calero M, Lashley T, Vidal R,
Houlden H, Wood N, Neubert TA, Rostagno A, Plant G, Revesz T,
Frangione B.
Systemic amyloid deposits in familial British dementia.
J Biol Chem. 2001 Nov 23;276(47):43909-14. Epub 2001 Sep 13.
PMID: 11557758