Clinical and pathological characteristics of patients with leucine-rich repeat kinase-2 mutations

Movement Disorders

Volumn 24, Issue 1, 2009, Pages 32-39

  Covy, Jason P ^a   Yuan, Wuxing ^a   Waxman, Elisa A ^a   Hurtig, Howard I ^a   Van Deerlin, Vivianna M ^a   Giasson, Benoit I ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Genetics; Leucine rich repeat kinase 2 (LRRK2); Parkinson's disease with dementia; Parkinson's disease Parkinsonism

Indexed keywords

ALPHA SYNUCLEIN; CARBIDOPA PLUS LEVODOPA; LEUCINE RICH REPEAT KINASE 2;

ADULT; AGED; APATHY; ARTICLE; AUDITORY HALLUCINATION; BRADYKINESIA; CASE REPORT; CLINICAL FEATURE; CONFUSION; CONTROLLED STUDY; CYTOPLASM; DELUSION; DEMENTIA; DEPRESSION; FEMALE; GENE MUTATION; HIPPOCAMPUS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MEMORY DISORDER; MENTAL DISEASE; MISSENSE MUTATION; MOLECULAR GENETICS; MUSCLE RIGIDITY; MUTATIONAL ANALYSIS; NEUROFIBRILLARY TANGLE; PARKINSON DISEASE; PARKINSONISM; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; TEMPORAL CORTEX; TREMOR; VISUAL HALLUCINATION;

AGED; ALPHA-SYNUCLEIN; AMINO ACID SEQUENCE; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; HIPPOCAMPUS; HUMANS; INCLUSION BODIES; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NEUROFIBRILLARY TANGLES; PARKINSON DISEASE; PARKINSONIAN DISORDERS; PHOSPHORYLATION; PHOSPHOSERINE; POINT MUTATION; PROTEIN PROCESSING, POST-TRANSLATIONAL; PROTEIN-SERINE-THREONINE KINASES; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; TEMPORAL LOBE;

EID: 61449104983     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22096     Document Type: Article

References (47)

1. Simuni T, Hurtig HI. Parkinson's disease: the clinical picture. In: Clark CM, Trojanoswki JQ, editors. Neurodegenerative dementias. New York: McGraw-Hill; 2000. p 193-203.
2. Gelb DJ, Oliver E, Gilman S. Diagnostic criteria for Parkinson disease. Arch Neurol 1999;56:33-39.
3. Pakkenberg B, Moller A, Gundersen HJ, Mouritzen DA, Pakkenberg H. The absolute number of nerve cells in substantia nigra in normal subjects and in patients with Parkinson's disease estimated with an unbiased stereological method. J Neurol Neurosurg Psychiatry 1991;54:30-33.
4. Damier P, Hirsch EC, Agid Y, Graybiel AM. The substantia nigra of the human brain. II. Patterns of loss of dopamine-containing neurons in Parkinson's disease. Brain 1999;122 (Part 8): 1437-1448.
5. Forno LS. Neuropathology of Parkinson's disease. J Neuropathol Exp Neurol 1996;55:259-272.
6. Braak H, Del Tredici K, Rub U, de Vos RA, Jansen Steur EN, Braak E. Staging of brain pathology related to sporadic Parkinson's disease. Neurobiol Aging 2003;24:197-211.
7. Goedert M. Alpha-synuclein and neurodegenerative diseases. Nat Rev Neurosci 2001;2:492-501.
8. Forman MS, Lee VM, Trojanowski JQ. Nosology of Parkinson's disease: looking for the way out of a quackmire. Neuron 2005; 47:479-482.
9. Zimprich A, Biskup S, Leitner P, et al. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 2004;44:601-607.
10. 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.
11. Taylor JP, Mata IF, Farrer MJ. LRRK2: a common pathway for parkinsonism, pathogenesis and prevention? Trends Mol Med 2006;12:76-82.
12. Deng H, Le W, Guo Y, Hunter CB, Xie W, Jankovic J. Genetic and clinical identification of Parkinson's disease patients with LRRK2 G2019S mutation. Ann Neurol 2005;57:933-934.
13. Gilks WP, Abou-Sleiman PM, Gandhi S, et al. A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet 2005; 365:415-416.
14. 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.
15. Paisan-Ruiz C, Lang AE, Kawarai T, et al. LRRK2 gene in Parkinson disease. Neurology 2005;65:696-700.
16. 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.
17. Hernandez D, Paisan RC, 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: 137-139.
18. 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.
19. Lesage S, Ibanez P, Lohmann E, et al. G2019S LRRK2 mutation in French and North African families with Parkinson's disease. Ann Neurol 2005;58:784-787.
20. Lesage S, Durr A, Tazir M, et al. LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs. N Engl J Med 2006;354:422-423.
21. Ozelius LJ, Senthil G, Saunders-Pullman R, et al. LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews. N Engl J Med 2006;354:424-425.
22. Goldwurm S, Zini M, Mariani L, et al. Evaluation of LRRK2 G2019S penetrance: relevance for genetic counseling in Parkinson disease. Neurology 2007;68:1141-1143.
23. Giasson BI, Covy JP, Bonini NM, et al. Biochemical and pathological characterization of Lrrk2. Ann Neurol 2006;59:315-322.
24. Ross OA, Toft M, Whittle AJ, et al. Lrrk2 and Lewy body disease. Ann Neurol 2006;59:388-393.
25. Papapetropoulos S, Singer C, Ross OA, et al. Clinical heterogeneity of the LRRK2 G2019S mutation. Arch Neurol 2006;63: 1242-1246.
26. Gaig C, Marti MJ, Ezquerra M, Rey MJ, Cardozo A, Tolosa E. G2019S LRRK2 mutation causing Parkinson's disease without Lewy bodies. J Neurol Neurosurg Psychiatry 2007;78:626-628.
27. 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.
28. Rajput A, Dickson DW, Robinson CA, et al. Parkinsonism, Lrrk2 G2019S, and tau neuropathology. Neurology 2006;67: 1506-1508.
29. Wszolek ZK, Pfeiffer RF, Tsuboi Y, et al. Autosomal dominant parkinsonism associated with variable synuclein and tau pathology. Neurology 2004;62:1619-1622.
30. Duda JE, Giasson BI, Mabon ME, Lee VMY, Trojanoswki JQ. Novel antibodies to oxidized α-synuclein reveal abundant neuritic pathology in Lewy body disease. Ann Neurol 2002;52:205-210.
31. Giasson BI, Jakes R, Goedert M, et al. A panel of epitope-specific antibodies detects protein domains distributed throughout human alpha-synuclein in Lewy bodies of Parkinson's disease. J Neurosci Res 2000;59:528-533.
32. Baba M, Nakajo S, Tu PH, et al. Aggregation of α-synuclein in Lewy bodies of sporadic Parkinson's disease and dementia with Lewy bodies. Am J Pathol 1998;152:879-884.
33. Waxman, EA, Giasson, BI. Specificity and regulation of casein kinase-mediated phosphorylation of α-synuclein. J Neuropathol Exp Neurol 2008;67:402-416.
34. Chen-Plotkin AS, Yuan W, Anderson C, et al. Corticobasal syndrome and primary progressive aphasia as manifestations of LRRK2 gene mutations. Neurology 2007;70:521-527.
35. Farrer M, Stone J, Mata IF, et al. LRRK2 mutations in Parkinson disease. Neurology 2005;65:738-740.
36. Duda JE, Giasson BI, Gur TL, et al. Immunohistochemical and biochemical studies demonstrate a distinct profile of α-synuclein permutations in multiple system atrophy. J Neuropathol Exp Neurol 2000;59:830-841.
37. Fujiwara H, Hasegawa M, Dohmae N, et al. α-synuclein is phosphorylated in synucleinopathy lesions. Nat Cell Biol 2002;4:160-164.
38. Neumann M, Sampathu DM, Kwong LK, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006;314:130-133.
39. Nakashima-Yasuda H, Uryu K, Robinson J, et al. Comorbidity of TDP-43 proteinopathy in Lewy body related diseases. Acta Neuropathol (Berl) 2007;114:221-229.
40. Berg D, Schweitzer K, Leitner P, et al. Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease. Brain 2005;128:3000-3011.
41. Toft M, Haugarvoll K, Ross OA, Farrer MJ, Aasly JO. LRRK2 and Parkinson's disease in Norway. Acta Neurol Scand Suppl 2007;187:72-75.
42. Di Fonzo A, Wu-Chou YH, Lu CS, et al. A common missense variant in the LRRK2 gene, Gly 2385Arg, associated with Parkinson's disease risk in Taiwan. Neurogenetics 2006;7:133-138.
43. Tan EK, Fook-Chong S, Yi Z. Comparing LRRK2 Gly2385Arg carriers with noncarriers. Mov Disord 2007;22:749-750.
44. Goldwurm S, Zini M, Di Fonzo A, et al. LRRK2 G2019S mutation and Parkinson's disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample. Parkinsonism Relat Disord 2006;12:410-419.
45. Tomiyama H, Li Y, Funayama M, et al. Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries. Mov Disord 2006;21:1102-1108.
46. Khan NL, Jain S, Lynch JM, et al. Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data. Brain 2005;128:2786-2796.
47. Dachsel JC, Ross OA, Mata IF, et al. Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions. Acta Neuropathol (Berl) 2007;113:601-606.