A. Papadimitriou et al., Mutated alpha-synuclein gene in two Greek kindreds with familial PD: Incomplete penetrance?, NEUROLOGY, 52(3), 1999, pp. 651-654
The G209A mutation in the alpha-synuclein gene has been associated with aut
osomal dominant PD (ADPD) in a family from Contursi, Italy, and three appar
ently unrelated Greek families. Several groups around the world failed to i
dentify the G209A mutation in a sizable series of familial and sporadic cas
es of PD. The authors present two additional Greek families with ADPD assoc
iated with the G209A mutation. In both families, asymptomatic carriers olde
r than the expected age at onset were found.