Analysis of apolipoprotein E, α1-antichymotrypsin and presenilin-1 genes polymorphisms in dementia caused by normal pressure hydrocephalus in man

• Published in: Neuroscience letters 1997-07, Vol.229 (3), p.177-180
• Main Authors: Nacmias, Benedetta, Tedde, Andrea, Guarnieri, Bianca Maria, Petruzzi, Concetta, Ortenzi, Luigi, Serio, Antonio, Amaducci, Luigi, Sorbi, Sandro
• Format: Article
• Language: English
• Subjects: Apolipoprotein E; Biological and medical sciences; Disorders of higher nervous function. Focal brain diseases. Central vestibular syndrome and deafness. Brain stem syndromes; Medical sciences; Nervous system (semeiology, syndromes); Neurology; Normal pressure hydrocephalus; Polymorphism; α1-Antichymotrypsin genetics
• ISSN: 0304-3940; 1872-7972
• DOI: 10.1016/S0304-3940(97)00449-7

Normal pressure hydrocephalus (NPH) is characterized by dementia, gait disorders and urinary incontinence. Apolipoprotein E (ApoE) ϵ4 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 α 1-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 ϵ4 allele frequency was observed in NPH patients with respect to controls, thus suggesting that ϵ4 allele may also be involved in the pathogenesis of the disease.