Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration

Movement Disorders

Volumn 32, Issue 1, 2017, Pages 115-123

  Sanchez Contreras, Monica ^a   Heckman, Michael G ^b   Tacik, Pawel ^b   Diehl, Nancy ^b   Brown, Patricia H ^a   Soto Ortolaza, Alexandra I ^a   Christopher, Elizabeth A ^a   Walton, Ronald L ^a   Ross, Owen A ^a   Golbe, Lawrence I ^c   Graff Radford, Neill ^b   Wszolek, Zbigniew K ^b   Dickson, Dennis W ^a   Rademakers, Rosa ^a  

^a MAYO GRADUATE SCHOOL   (United States)

^b MAYO CLINIC   (United States)

^c ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

Author keywords

CBD; LRRK2; mutation; PSP; tauopathy

Indexed keywords

ARTICLE; CONTROLLED STUDY; CORTICOBASAL DEGENERATION; EXON; GENE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC RISK; GENETIC VARIATION; GENOTYPE; HUMAN; HUMAN TISSUE; LRRK2 GENE; MAJOR CLINICAL STUDY; NEUROPATHOLOGY; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; SANGER SEQUENCING; SINGLE NUCLEOTIDE POLYMORPHISM; TAUOPATHY; BLOOD; BRAIN; EXTRAPYRAMIDAL SYNDROME; GENETICS; METABOLISM; PATHOLOGY;

LEUCINE RICH REPEAT KINASE 2; LRRK2 PROTEIN, HUMAN;

BASAL GANGLIA DISEASES; BRAIN; HUMANS; LEUCINE-RICH REPEAT SERINE-THREONINE PROTEIN KINASE-2; SUPRANUCLEAR PALSY, PROGRESSIVE; TAUOPATHIES;

EID: 84990864318     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.26815     Document Type: Article

References (30)

1. Dickson DW, Hauw JJ, Agid Y, Litvan I. Progressive supranuclear palsy and corticobasal degeneration. In: Dickson DW, Weller RO, eds. Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders. Oxford: Wiley-Blackwell; 2011:135–155.
2. Respondek G, Hoglinger GU. The phenotypic spectrum of progressive supranuclear palsy. Parkinsonism Relat Disord 2016;22(suppl 1):S34–S36.
3. Armstrong MJ, Litvan I, Lang AE, et al. Criteria for the diagnosis of corticobasal degeneration. Neurology 2013;80(5):496–503.
4. Kalia LV, Lang AE, Hazrati LN, et al. Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease. JAMA Neurol 2015;72(1):100–105.
5. Trinh J, Guella I, McKenzie M, et al. Novel LRRK2 mutations in parkinsonism. Parkinsonism Relat Disord 2015;21(9):1119–1121.
6. Chen-Plotkin AS, Yuan W, Anderson C, et al. Corticobasal syndrome and primary progressive aphasia as manifestations of LRRK2 gene mutations. Neurology 2008;70(7):521–527.
7. Donker Kaat L, Boon AJ, Azmani A, et al. Familial aggregation of parkinsonism in progressive supranuclear palsy. Neurology 2009;73(2):98–105.
8. Tan EK, Skipper L, Chua E, et al. Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late-onset Parkinson's disease. Mov Disord 2006;21(7):997–1001.
9. Madzar D, Schulte C, Gasser T. Screening for LRRK2 R1441 mutations in a cohort of PSP patients from Germany. Eur J Neurol 2009;16(11):1230–1232.
10. Hernandez D, Paisan Ruiz C, Crawley A, et al. The dardarin G2019S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases. Neurosci Lett 2005;389(3):137–139.
11. Ross OA, Whittle AJ, Cobb SA, et al. Lrrk2 R1441 substitution and progressive supranuclear palsy. Neuropathol Appl Neurobiol 2006;32(1):23–25.
12. Ross OA, Toft M, Whittle AJ, et al. Lrrk2 and Lewy body disease. Ann Neurol 2006;59(2):388–393.
13. Gaig C, Ezquerra M, Martí MJ, et al. Screening for the LRRK2 G2019S and codon-1441 mutations in a pathological series of parkinsonian syndromes and frontotemporal lobar degeneration. J Neurol Sci 2008;270(1-2):94–98.
14. Hauw JJ, Daniel SE, Dickson D, et al. Preliminary NINDS neuropathologic criteria for Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy). Neurology 1994;44(11):2015–2019.
15. Dickson DW, Bergeron C, Chin SS, et al. Office of Rare Diseases neuropathologic criteria for corticobasal degeneration. J Neuropathol Exp Neurol 2002;61(11):935–946.
16. Murray ME, Lowe VJ, Graff-Radford NR, et al. Clinicopathologic and 11C-Pittsburgh compound B implications of Thal amyloid phase across the Alzheimer's disease spectrum. Brain 2015;138(Pt 5):1370–1381.
17. Heckman MG, Schottlaender L, Soto-Ortolaza AI, et al. LRRK2 exonic variants and risk of multiple system atrophy. Neurology 2014;83(24):2256–2261.
18. Ross OA, Soto-Ortolaza AI, Heckman MG, et al. Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol 2011;10(10):898–908.
19. Nalls MA, Pankratz N, Lill CM, et al. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nat Genet 2014;46(9):989–993.
20. Lake SL, Lyon H, Tantisira K, et al. Estimation and tests of haplotype-environment interaction when linkage phase is ambiguous. Hum Hered 2003;55(1):56–65.
21. Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA. Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet 2002;70(2):425–434.
22. Zimprich A, Biskup S, Leitner P, et al. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 2004;44(4):601–607.
23. Rubio JP, Topp S, Warren L, et al. Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe. Hum Mutat 2012;33(7):1087–1098.
24. Ross OA, Wu Y-R, Lee M-C, et al. Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease. Ann Neurol 2008;64(1):88–92.
25. Tan EK, Peng R, Teo YY, et al. Multiple LRRK2 variants modulate risk of Parkinson disease: a Chinese multicenter study. Hum Mutat 2010;31(5):561–568.
26. Wider C, Dickson DW, Wszolek ZK. Leucine-rich repeat kinase 2 gene-associated disease: redefining genotype-phenotype correlation. Neurodegener Dis 2010;7(1-3):175–179.
27. Spanaki C, Latsoudis H, Plaitakis A. LRRK2 mutations on crete: R1441H associated with PD evolving to PSP. Neurology 2006;67(8):1518–1519.
28. Ruffmann C, Giaccone G, Canesi M, et al. Atypical tauopathy in a patient with LRRK2-G2019S mutation and tremor-dominant parkinsonism. Neuropathol Appl Neurobiol 2012;38(4):382–386.
29. Williams DR, Holton JL, Strand C, et al. Pathological tau burden and distribution distinguishes progressive supranuclear palsy-parkinsonism from Richardson's syndrome. Brain 2007;130(Pt 6):1566–1576.
30. Kouri N, Carlomagno Y, Baker M, et al. Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration. Acta Neuropathol 2014;127(2):271–282.