Clinical features of parkinsonian patients with the alpha-synuclein (G209A) mutation.

The motor and neuropsychological abnormalities in eight Greek patients with Parkinson's disease (PD) carrying the alpha-synuclein gene mutation (G209A) were studied. These patients (five men, three women) belonged to six different families. Their symptoms started between 32-50 years of age (mean +/- SD, 39.

Mutated alpha-synuclein gene in two Greek kindreds with familial PD: incomplete penetrance?

The G209A mutation in the alpha-synuclein gene has been associated with autosomal dominant PD (ADPD) in a family from Contursi, Italy, and three apparently unrelated Greek families. Several groups around the world failed to identify the G209A mutation in a sizable series of familial and sporadic cases of PD. The authors present two additional Greek families with ADPD associated with the G209A mutation.

Characterization of markers flanking the human SP-B locus.

We have previously identified a SP-B length polymorphism that appears with higher frequency in the RDS population (Biochem. J., 305, 1995, p583).