title: [Alzheimer's disease and Down's syndrome. Some recent etiopathogenic data].
abstract: The present status of research clearly demonstrates the occurrence of lesions characteristic of Alzheimer's disease in patients suffering from a Down's syndrome or trisomy 21. The senile plaques appear very early in trisomy 21 (from the age of 20) and are constant after 40 or 45 years. In these two illnesses, the beta-amyloid protein or A4 protein (4.2 kD) leads to deposits in preferential regions of the central nervous system within two compartments: 1) intracellular, contributing to the formation of neurofibrillary tangles and 2) extracellular, making up the amyloid center of senile plaques as well as around the wall of some blood vessels, then corresponding to the amyloid congophilic angiopathies. Unexpectedly, larger proteins including the A4 sequence have been shown to be normally present in several tissues of normal as well as sick individuals and represent possible precursors of the A4 protein. Alzheimer's disease may happen either sporadically or following a familial incidence associated with an autosomic dominant mode of transmission. Moreover, the risk of incidence of trisomy 21 seems to be enhanced for collaterals of Alzheimer's disease patients. Since 1987, the use of molecular biology tools has revealed particularly fruitful. A linkage analysis has been undertaken that showed an association of the putative gene for the familial form of Alzheimer's disease (FAD) with the gene coding for amyloid precursor proteins (APP).(ABSTRACT TRUNCATED AT 250 WORDS)
authors.affiliation: Institutions Universitaires Psychiatriques de Genève, Division de Psychopathologie Morphologique, Chêne-Bourg, Suisse.
authors.forename: J
authors.initials: J
authors.lastname: Golaz
authors.forename: Y
authors.initials: Y
authors.lastname: Charnay
authors.forename: P
authors.initials: P
authors.lastname: Vallet
authors.forename: C
authors.initials: C
authors.lastname: Bouras
mesh_terms: D000328:Adult; D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics* / Q000473:pathology; D016564:Amyloid beta-Protein Precursor / Q000235:genetics; D001921:Brain / Q000473:pathology; D002891:Chromosomes, Human, Pair 21; D004314:Down Syndrome / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D016874:Neurofibrillary Tangles / Q000473:pathology; D012307:Risk Factors
chemical_list: D016564:Amyloid beta-Protein Precursor
vernacular_title: Maladie d'Alzheimer et syndrome de Down. Quelques données étiopathogéniques récentes.