Novel LRRK2 mutations in Parkinsonism

Parkinsonism and Related Disorders

Volumn 21, Issue 9, 2015, Pages 1119-1121

  Trinh, Joanne ^a   Guella, Ilaria ^a   McKenzie, Marna ^a   Gustavsson, Emil K ^a,b,c   Szu Tu, Chelsea ^a   Petersen, Maria Skaalum ^d   Rajput, Alex ^e   Rajput, Ali H ^e   McKeown, Martin ^f   Jeon, Beom S ^g   Aasly, Jan O ^b,c   Bardien, Soraya ^h   Farrer, Matthew J ^a,f  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

^c TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

^d FAROESE HOSPITAL SYSTEM   (Faroe Islands)

^e UNIVERSITY OF SASKATCHEWAN   (Canada)

^f UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^g Seoul National University Hospital   (South Korea)

^h UNIVERSITY OF STELLENBOSCH   (South Africa)

Author keywords

LRRK2 gene; MSA; Parkinson disease; PSP

Indexed keywords

LEUCINE RICH REPEAT KINASE 2; LRRK2 PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE;

AMINO ACID SUBSTITUTION; CLINICAL EXAMINATION; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; EXOME; EXON; GENE FREQUENCY; GENE MAPPING; GENE MUTATION; GENETIC RISK; GENETIC VARIABILITY; HUMAN; HUMAN GENOME; LETTER; MAJOR CLINICAL STUDY; PARKINSONISM; PRIORITY JOURNAL; ADULT; AGED; CULTURAL FACTOR; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MALE; MIDDLE AGED; MUTATION; PROGRESSIVE SUPRANUCLEAR PALSY; VERY ELDERLY; YOUNG ADULT;

ADULT; AGED; AGED, 80 AND OVER; CROSS-CULTURAL COMPARISON; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; PARKINSONIAN DISORDERS; PROTEIN-SERINE-THREONINE KINASES; SUPRANUCLEAR PALSY, PROGRESSIVE; YOUNG ADULT;

EID: 84940614247     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2015.07.011     Document Type: Letter

References (5)

1. Hulihan M.M., Ishihara-Paul L., Kachergus J., Warren L., Amouri R., Elango R., et al. LRRK2 Gly2019Ser penetrance in Arab-Berber patients from Tunisia: a case-control genetic study. Lancet Neurol. 2008, 7:591-594.
2. Ross O.A., Soto-Ortolaza A.I., Heckman M.G., Aasly J.O., Abahuni N., Annesi G., et al. Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol. 2011, 10:898-908.
3. Heckman M.G., Soto-Ortolaza A.I., Aasly J.O., Abahuni N., Annesi G., Bacon J.A., et al. Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's disease (GEO-PD) consortium. Movement disorders. Off. J. Mov. Disord. Soc. 2013, 28:1740-1744.
4. Johnson J., Paisan-Ruiz C., Lopez G., Crews C., Britton A., Malkani R., et al. Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation. Neuro-degener. Dis. 2007, 4:386-391.
5. Rajput A., Dickson D.W., Robinson C.A., Ross O.A., Dachsel J.C., Lincoln S.J., et al. Parkinsonism, Lrrk2 G2019S, and tau neuropathology. Neurology 2006, 67:1506-1508.