title: Analysis of apolipoprotein E, alpha1-antichymotrypsin and presenilin-1 genes polymorphisms in dementia caused by normal pressure hydrocephalus in man.
abstract: Normal pressure hydrocephalus (NPH) is characterized by dementia, gait disorders and urinary incontinence. Apolipoprotein E (ApoE) epsilon4 allele has been associated with severity of dementia in Alzheimer's disease (AD) and in other forms of dementia. Moreover, homozygosity of the A allele of the alpha1-antichymotrypsin (ACT) gene and of allele 1 of the presenilin-1 (PS-1) gene was associated with an increased risk for late onset AD. We analyzed the distribution of ApoE, ACT and PS-1 genotypes and the corresponding allele frequencies in 13 NPH patients. No differences were found in ACT and PS-1 polymorphism distributions in the patients studied with respect to the control group. An increased ApoE epsilon4 allele frequency was observed in NPH patients with respect to controls, thus suggesting that epsilon4 allele may also be involved in the pathogenesis of the disease.
authors.affiliation: Department of Neurological and Psychiatric Sciences, University of Florence, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Nacmias
authors.forename: A
authors.initials: A
authors.lastname: Tedde
authors.forename: B M
authors.initials: BM
authors.lastname: Guarnieri
authors.forename: C
authors.initials: C
authors.lastname: Petruzzi
authors.forename: L
authors.initials: L
authors.lastname: Ortenzi
authors.forename: A
authors.initials: A
authors.lastname: Serio
authors.forename: L
authors.initials: L
authors.lastname: Amaducci
authors.forename: S
authors.initials: S
authors.lastname: Sorbi
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001057:Apolipoproteins E / Q000235:genetics*; D003704:Dementia / Q000209:etiology / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D006850:Hydrocephalus, Normal Pressure / Q000150:complications / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D053764:Presenilin-1; D011379:Prognosis; D000514:alpha 1-Antichymotrypsin / Q000235:genetics*
chemical_list: D001057:Apolipoproteins E; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D000514:alpha 1-Antichymotrypsin