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 |
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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 . . . |
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ISSN: | 0028-4793 1533-4406 |
DOI: | 10.1056/NEJMc055509 |