Open Access

Hereditary and sporadic beta-amyloidoses

Giuseppe Di Fede1,*,Giorgio Giaccone1,Fabrizio Tagliavini1
Division of Neurology 5 - Neuropathology, IRCCS Foundation, Carlo Besta Neurological Institute, Via Celoria 11, 20133 Milan, Italy
DOI: 10.2741/4173 Volume 18 Issue 4, pp.1202-1226
Published: 01 June 2013
*Corresponding Author(s):  
Giuseppe Di Fede

Cerebral amyloidoses are chronic, progressive neurodegenerative diseases that are caused by the aggregation and deposition of misfolded proteins in the central nervous system, and lead to cognitive deficits, stroke, and focal neurological dysfunction including cerebellar and extrapyramidal signs. Among them, betaamyloidoses are a heterogenous set of conditions characterised by the deposition of beta-amyloid protein in brain parenchyma and/or vessel walls that lead to the development of two main clinico-pathological entities: Alzheimer’s disease and cerebral amyloid angiopathy, which may be sporadic or familial, and may also coexist in the same patient. The aim of this review is to describe the most important differences in the pathways leading to parenchymal and cerebrovascular betaamyloidoses, and the main clinical, neuropathological and biochemical characteristics of the two conditions. It also discusses the phenotypes associated with a series of familial and sporadic beta-amyloidoses in more detail in order to highlight the clinical and neuropathological features that may help to distinguish the different forms of disease.

Key words

Amyloid, Abeta; Alzheimer’s Disease, Amyloidosis, Cerebral Amyloid Angiopathy, CAA, Presenilin, Amyloid Precursor Protein, APP, dementia, Cerebral Hemorrage, Autosomal Recessive App Mutation, Review

Share and Cite
Giuseppe Di Fede, Giorgio Giaccone, Fabrizio Tagliavini. Hereditary and sporadic beta-amyloidoses. Frontiers in Bioscience-Landmark. 2013. 18(4); 1202-1226.