Pathology and genetics of multiple system atrophy: an approach to determining genetic susceptibility spectrum.

Recent advances in the molecular pathology and genetics of multiple system atrophy (MSA) indicate that the disease involves plural pathogenic mechanisms. The determination of the morphological spectrum of MSA using quantitative pathological analysis points to the need for further investigation to determine the population-bound phenotype distribution of MSA. These notions support the hypothesis that a spectrum of genetic susceptibility factors underlies MSA pathogenesis. A possibly effective strategy for determining this genetic susceptibility spectrum is to perform an association study of important genes for neurodegenerative diseases, which are prevalent in a population, using linkage disequilibrium mapping in MSA patients with well-characterized morphological phenotypes.