A putative founder effect for Parkinson's disease in South African Afrikaners

Abstract

Neurodegenerative diseases are important causes of disability and death, with prominent examples including Alzheimer’s disease, Parkinson’s disease (PD) and motor neuron disease. Although familial clustering of these illnesses was well known before the advent of modern molecular genetics, meaningful strides in identifying the origin of neurodegenerative diseases have really only begun to be made in the past two decades. All these disorders are characterised by a small percentage of affected patients whose disease is clearly the result of Mendelian inherited genetic illness, either recessive or dominant. In particular, dominant disease is exemplified in the case of Alzheimer’s disease by presenilin 2 mutations that arose in German immigrants from the Volga river region in the 17th century,[1] and in PD by mutations in the LRRK2 protein that are linked to a founder effect dating back to the 2nd century, probably in Ashkenazi Jews.