Clinical heterogeneity of the LRRK2 G2019S mutation

Archives of Neurology

Volumn 63, Issue 9, 2006, Pages 1242-1246

  Papapetropoulos, Spiridon ^a   Singer, Carlos ^a   Ross, Owen A ^b   Toft, Mathias ^b   Johnson, Joseph L ^b   Farrer, Matthew J ^b   Mash, Deborah C ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMANTADINE; AMITRIPTYLINE; ANTIDEPRESSANT AGENT; BROMOCRIPTINE MESILATE; CHOLINERGIC RECEPTOR BLOCKING AGENT; ENTACAPONE; LEUCINE RICH REPEAT KINASE 2; LEVODOPA; PERGOLIDE MESILATE; PRAMIPEXOLE; PROTEIN KINASE; SELEGILINE; UNCLASSIFIED DRUG; VENLAFAXINE;

ACUTE HEART INFARCTION; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DEGENERATIVE DISEASE; DEPRESSION; DIFFUSE LEWY BODY DISEASE; DRUG DOSE REGIMEN; DYSKINESIA; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; HETEROZYGOTE; HUMAN; MALE; MOTOR DYSFUNCTION; ON OFF PHENOMENON; PARKINSON DISEASE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN;

AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GLYCINE; HUMANS; MALE; MODELS, MOLECULAR; MUTATION; PARKINSON DISEASE; PROTEIN-SERINE-THREONINE KINASES; SERINE;

EID: 33748584315     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.63.9.1242     Document Type: Article

References (26)

1. Zimprich A, Biskup S, Leitner P, et al. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron. 2004;44:601-607.
2. Paisan-Ruiz C, Jain S, Evans EW, et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron. 2004;44:595-600.
3. Kachergus J, Mata IF, Hulihan M, et al. Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations. Am J Hum Genet. 2005;76:672-680.
4. Gelb DJ, Oliver E, Gilman S. Diagnostic criteria for Parkinson disease. Arch Neurol. 1999;56:33-39.
5. Ross OA, Farrer MJ. Pathophysiology, pleiotrophy and paradigm shifts: genetic lessons from Parkinson's disease. Biochem Soc Trans. 2005;33:586-590.
6. Gilks WP, Abou-Sleiman PM, Gandhi S, et al. A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet. 2005;365:415-416.
7. Di Fonzo A, Rohe CF, Ferreira J, et al. A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease. Lancet. 2005;365:412-415.
8. Nichols WC, Pankratz N, Hernandez D, et al. Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet. 2005;365:410-412.
9. Funayama M, Hasegawa K, Ohta E, et al. An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family. Ann Neurol. 2005;57:918-921.
10. Tomiyama H, Funayama Li Y, et al. Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries [published online ahead of print, April 18, 2006]. Mov Disord. doi:10.1002/mds.20886. Accessed July 12, 2006.
11. Papapetropoulos S, Lieberman A, Gonzalez J, Mash DC. Can Alzheimer's type pathology influence the clinical phenotype of Parkinson's disease? Acta Neurol Scand. 2005;111:353-359.
12. Ross OA, Toft M, Whittle AJ, et al. Lrrk2 and Lewy body disease. Ann Neurol. 2006;59:388-393.
13. Lemke MR, Fuchs G, Gemende I, et al. Depression and Parkinson's disease. J Neurol. 2004;251(suppl 6):VI24-VI27.
14. Aasly JO, Toft M, Fernandez-Mata I, et al. Clinical features of LRRK2-associated Parkinson's disease in central Norway. Ann Neurol. 2005;57:762-765.
15. Lesage S, Leutenegger AL, Ibanez P, et al. LRRK2 haplotype analyses in European and North African families with Parkinson's disease: a common founder for the G2019S mutation dating from the 13th century. Am J Hum Genet. 2005;77:330-332.
16. Colosimo C, Hughes AJ, Kilford L, Lees AJ. Lewy body cortical involvement may not always predict dementia in Parkinson's disease. J Neurol Neurosurg Psychiatry. 2003;74:852-856.
17. Fuchs GA, Gemende I, Herting B, et al. Dementia in idiopathic Parkinson's syndrome. J Neurol. 2004;251(suppl 6):VI28-VI32.
18. Kay DM, Kramer P, Higgins D, Zabetian CP, Payami H. Escaping Parkinson's disease: a neurologically healthy octogenarian with the LRRK2 G2019S mutation [letter]. Mov Disord. 2005;20:1077-1078.
19. Di Monte DA. The environment and Parkinson's disease: is the nigrostriatal system preferentially targeted by neurotoxins? Lancet Neurol. 2003;2:531-538.
20. Kelley LA, Maccallum R, Sternberg MJE. Proceedings of the Third Annual Conference on Computational Molecular Biology. New York, NY: Association for Computing Machinery; 1999:218-225.
21. Chen L, Feany MB. α-Synuclein phosphorylation controls neurotoxicity and inclusion formation in a Drosophila model of Parkinson's disease. Nat Neurosci. 2005;8:657-663.
22. Lotharius J, Falsig J, van Beek J, et al. Progressive degeneration of human mesencephalic neuron-derived cells triggered by dopamine-dependent oxidative stress is dependent on the mixed-lineage kinase pathway. J Neurosci. 2005;25:6329-6342.
23. West AB, Moore DJ, Biskup S, et al. Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity. Proc Natl Acad Sci U S A. 2005;102:16842-16847.
24. Gloeckner CJ, Kinkl N, Schumacher A, et al. The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity. Hum Mol Genet. 2006;15:223-232.
25. Toft M, Mata IF, Kachergus JM, Ross OA, Farrer MJ. LRRK2 mutations and Parkinsonism. Lancet. 2005;365:1229-1230.
26. Wang LH, Besirli CG, Johnson EM Jr. Mixed-lineage kinases: a target for the prevention of neurodegeneration. Annu Rev Pharmacol Toxicol. 2004;44:451-474.