title: Hereditary and sporadic beta-amyloidoses.
abstract: 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, beta-amyloidoses 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 co-exist in the same patient. The aim of this review is to describe the most important differences in the pathways leading to parenchymal and cerebrovascular beta-amyloidoses, 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.
authors.affiliation: Division of Neurology 5-Neuropathology, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy. gdifede@istituto-besta.it
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Di Fede
authors.forename: Giorgio
authors.initials: G
authors.lastname: Giaccone
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Tagliavini
mesh_terms: D000686:Amyloidosis / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D006801:Humans