Gly2019Ser Mutation in LRRK2 and Parkinson's Disease
Author Information
Author(s): Jeanne C. Latourelle, Sun Mei, Mark F. Lew, Oksana Suchowersky, Christine Klein, Lawrence I. Golbe, Margery H. Mark, John H. Growdon, G. Frederick Wooten, Ray L. Watts, Mark Guttman, Brad A. Racette, Joel S. Perlmutter, Anwar Ahmed, Holly A. Shill, Carlos Singer, Stefano Goldwurm, Gianni Pezzoli, Michela Zini, Marie H. Saint-Hilaire, Audrey E. Hendricks, Sally Williamson, Michael W. Nagle, Jemma B. Wilk, Tiffany Massood, Karen W. Huskey, Jason M. Laramie, Anita L. DeStefano, Kenneth B. Baker, Ilia Itin, Irene Litvan, Garth Nicholson, Alastair Corbett, Martha Nance, Edward Drasby, Stuart Isaacson, David J. Burn, Patrick F. Chinnery, Peter P. Pramstaller, Jomana Al-hinti, Anette T. Moller, Karen Oestergaard, Scott J. Sherman, Richard Roxburgh, Barry Snow, John T. Slevin, Franca Cambi, James F. Gusella, Richard H. Myers
Primary Institution: Boston University School of Medicine
Hypothesis
What is the age-dependent penetrance of the Gly2019Ser mutation in familial Parkinson's disease?
Conclusion
The study found that the lifetime penetrance of the Gly2019Ser mutation in familial Parkinson's disease is higher than previously reported in sporadic cases.
Supporting Evidence
- The Gly2019Ser mutation is the most common known genetic cause of Parkinson's disease.
- The study included 903 familial PD cases and 197 controls.
- The unbiased estimated penetrance for G2019S families was 67% at ages 90 to 94.
- Nine PD-affected relatives of G2019S carriers did not carry the mutation themselves.
- No differences in penetrance were found between men and women.
Takeaway
This study looked at families with Parkinson's disease to see how likely it is for family members to also get the disease if they have a specific gene mutation. They found that many family members do get the disease, but not everyone does.
Methodology
The study screened 903 affected and 58 unaffected members from 509 families for LRRK2 mutations and estimated penetrance.
Potential Biases
Ascertainment bias may have influenced the penetrance estimates.
Limitations
The study may have inherent bias due to the familial sample selection.
Participant Demographics
The sample included 903 familial PD cases, with a mean age of onset of 60.4 years.
Statistical Information
P-Value
p<0.05
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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