The functional MAOA-uVNTR promoter polymorphism in patients with frontotemporal dementia.

ABSTRACT

The genetic underpinnings of frontotemporal dementia (FTD), a rare yet early onset disorder still remains elusive. As FTD is characterized by a serotonergic deficit in the frontal lobe, and as some symptoms of FTD resemble conditions of monoamino oxidase A (MAO-A) deficiency, MAO-A is an attractive candidate gene for case-control association studies of FTD. We have thus ascertained 62 Italian FTD patients and 151 controls matched to age and genotyped them for a functional promoter polymorphism, termed MAOA-uVNTR. However, no significant differences were observed between patients and controls. Bearing in mind the caveat of the small patient sample size, our data nevertheless argue against a major genetic role of MAO-A polymorphism in FTD.