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Ann Neurol. 2005 Oct;58(4):639-44.

A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy.

Author information

1
Amyloid Center, Biotechnology Research Laboratories, IRCCS Policlinico San Matteo, Pavia, Italy.

Abstract

Mutations in AbetaPP cause deposition of Abeta amyloid fibrils in brain parenchyma and cerebral vessels, resulting in Alzheimer's disease (AD) and/or cerebral amyloid angiopathy (CAA). We report a novel mutation (L705V) within the Abeta sequence of AbetaPP in a family with autosomal dominant, recurrent intracerebral hemorrhages. Pathological examination disclosed severe CAA, without parenchymal amyloid plaques or neurofibrillary tangles. This variant highlights the vascular tropism of mutated Abeta, resulting in CAA instead of the pathological hallmarks of AD.

PMID:
16178030
DOI:
10.1002/ana.20571
[Indexed for MEDLINE]

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