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Genetic factors play a particularly important role in early onset Parkinson disease (EOPD).1 The first EOPD gene discovered was Parkin. Previous studies have shown that about 10 to 20% of all patients with sporadic EOPD with onset before the age of 45 years also carry Parkin mutations and Hedrich et al. have confirmed this in their work published in this issue of Neurology.2,3⇓
Hedrich et al. then went on to investigate the remaining, Parkin-negative EOPD patients for DJ-1 mutations. Mutations in DJ-1, the second EOPD gene (PARK7), were first identified in two consanguineous families with autosomal recessively inherited EOPD in isolated Dutch and Sicilian populations.4 The genetic background of these families was therefore highly unusual but the subsequent detection of DJ-1 mutations in sporadic EOPD from other populations proves that the study of genetic isolates can be a powerful tool. These subsequent studies detected either a …
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