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

Citation
A. Papadimitriou et al., Mutated alpha-synuclein gene in two Greek kindreds with familial PD: Incomplete penetrance?, NEUROLOGY, 52(3), 1999, pp. 651-654
Citations number
10
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
NEUROLOGY
ISSN journal
00283878 → ACNP
Volume
52
Issue
3
Year of publication
1999
Pages
651 - 654
Database
ISI
SICI code
0028-3878(199902)52:3<651:MAGITG>2.0.ZU;2-F
Abstract
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.