LRRK2 G2019S as a Cause of Parkinson's Disease in Ashkenazi Jews

To the Editor: Most cases of Parkinson's disease are considered sporadic and idiopathic, although there is evidence of familial aggregation, and several monogenic forms have been identified. 1 Recently, several pathogenic mutations in the highly conserved leucine-rich repeat kinase 2 gene ( LRR...

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Veröffentlicht in:The New England journal of medicine 2006-01, Vol.354 (4), p.424-425
Hauptverfasser: Klein, Christine, Risch, Neil, Ozelius, Laurie J, Bressman, Susan B, Henick, Brian, Soto-Valencia, Jeannie, Saunders-Pullman, Rachel, Hailpern, Susan M, Ohmann, Erin, Senthil, Geetha, Lipton, Richard B, Deligtisch, Amanda, Tagliati, Michele, Hunt, Ann L
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Sprache:eng
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Zusammenfassung:To the Editor: Most cases of Parkinson's disease are considered sporadic and idiopathic, although there is evidence of familial aggregation, and several monogenic forms have been identified. 1 Recently, several pathogenic mutations in the highly conserved leucine-rich repeat kinase 2 gene ( LRRK2 ) have been associated with autosomal dominant, late-onset Parkinson's disease. 1 Of these, the G2019S substitution is the most frequently reported. 2 It occurs in about 1 percent of unselected cases and 3 to 6 percent of familial cases of Parkinson's disease in persons primarily of European ancestry 2 but in 7 of 17 cases of familial disease in persons from . . .
ISSN:0028-4793
1533-4406
DOI:10.1056/NEJMc055509