Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course

Movement Disorders

Volumn 27, Issue 3, 2012, Pages 393-399

  Setó Salvia, Núria ^a,b,c   Pagonabarraga, Javier ^a,d   Houlden, Henry ^e   Pascual Sedano, Berta ^a,d   Dols Icardo, Oriol ^a   Tucci, Arianna ^f   Paisán Ruiz, Coro ^g   Campolongo, Antonia ^a,d   Antón Aguirre, Sofía ^a   Martín, Inés ^a   Muñoz, Laia ^a   Bufill, Enric ^h   Vilageliu, Lluïsa ⁱ   Grinberg, Daniel ⁱ   Cozar, Mónica ⁱ   Blesa, Rafael ^a,d   Lleó, Alberto ^a,d   Hardy, John ^f   Kulisevsky, Jaime ^a,d   Clarimón, Jordi ^a,d  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^b UNIVERSITAT ROVIRA I VIRGILI   (Spain)

^c INSTITUT CATALÀ DE PALEOECOLOGIA HUMANA I EVOLUCIÓ SOCIAL   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^h HOSPITAL GENERAL DE VIC   (Spain)

ⁱ UNIVERSITY OF BARCELONA   (Spain)

Author keywords

Dementia; Genetics; Glucocerebrosidase; Lewy body disease; Parkinson's disease

Indexed keywords

GLUCOSYLCERAMIDASE; LEVODOPA;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DEMENTIA; DIFFUSE LEWY BODY DISEASE; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE DURATION; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PARKINSON DISEASE; PHENOTYPE; PRIORITY JOURNAL; RISK ASSESSMENT; TREATMENT RESPONSE;

ADULT; AGED; ANALYSIS OF VARIANCE; CHI-SQUARE DISTRIBUTION; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GLUCOSYLCERAMIDASE; HUMANS; LEWY BODY DISEASE; MALE; MIDDLE AGED; MUTATION; NEUROPSYCHOLOGICAL TESTS; PARKINSONIAN DISORDERS; RISK FACTORS;

EID: 84858288732     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.24045     Document Type: Article

References (46)

1. Aarsland D, Zaccai J, Brayne C. A systematic review of prevalence studies of dementia in Parkinson's disease. Mov Disord. 2005; 20: 1255-1263.
2. Lwin A, Orvisky E, Goker-Alpan O, LaMarca ME, Sidransky E. Glucocerebrosidase mutations in subjects with parkinsonism. Mol Genet Metab. 2004; 81: 70-73.
3. Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med. 2004; 351: 1972-1977.
4. Clark LN, Nicolai A, Afridi S, et al. Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity. Mov Disord. 2005; 20: 100-103.
5. Gan-Or Z, Giladi N, Rozovski U, et al. Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset. Neurology. 2008; 70: 2277-2283.
6. Mao XY, Burgunder JM, Zhang ZJ, et al. Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China. Neurosci Lett. 2010; 469: 256-259.
7. Mata IF, Samii A, Schneer SH, et al. Glucocerebrosidase gene mutations:a risk factor for Lewy body disorders. Arch Neurol. 2008; 65: 379-382.
8. Sato C, Morgan A, Lang AE, et al. Analysis of the glucocerebrosidase gene in Parkinson's disease. Mov Disord. 2005; 20: 367-370.
9. Spitz M, Rozenberg R, Pereira Lda V, Reis Barbosa E. Association between Parkinson's disease and glucocerebrosidase mutations in Brazil. Parkinsonism Relat Disord. 2008; 14: 58-62.
10. Sun QY, Guo JF, Wang L, et al. Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population. Mov Disord. 2010; 25: 1005-1011.
11. Toft M, Pielsticker L, Ross OA, Aasly JO, Farrer MJ. Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population. Neurology. 2006; 66: 415-417.
12. Bras J, Paisan-Ruiz C, Guerreiro R, et al. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. Neurobiol Aging. 2009; 30: 1515-1517.
13. Clark LN, Ross BM, Wang Y, et al. Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. Neurology. 2007; 69: 1270-1277.
14. Goker-Alpan O, Giasson BI, Eblan MJ, et al. Glucocerebrosidase mutations are an important risk factor for Lewy body disorders. Neurology. 2006; 67: 908-910.
15. Kalinderi K, Bostantjopoulou S, Paisan-Ruiz C, Katsarou Z, Hardy J, Fidani L. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece. Neurosci Lett. 2009; 452: 87-89.
16. Neumann J, Bras J, Deas E, et al. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain. 2009; 132: 1783-1794.
17. Sidransky E, Nalls MA, Aasly JO, et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med. 2009; 361: 1651-1661.
18. Ziegler SG, Eblan MJ, Gutti U, et al. Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. Mol Genet Metab. 2007; 91: 195-200.
19. Clark LN, Kartsaklis LA, Wolf Gilbert R, et al. Association of glucocerebrosidase mutations with dementia with lewy bodies. Arch Neurol. 2009; 66: 578-583.
20. Nishioka K, Ross OA, Vilarino-Guell C, et al. Glucocerebrosidase mutations in diffuse Lewy body disease. Parkinsonism Relat Disord. 2010; 17: 55-57.
21. Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease:a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry. 1992; 55: 181-184.
22. Fahn S, Marsden CD, Calne DB, Goldstein M, eds. Recent Developments in Parkinson's Disease. Florham Park, NJ: Macmillan Healthcare Information; 1987: 153-163.
23. Hoehn MM, Yahr MD. Parkinsonism:onset, progression and mortality. Neurology. 1967; 17: 427-442.
24. Jankovic J, McDermott M, Carter J, et al. Variable expression of Parkinson's disease:a base-line analysis of the DATATOP cohort. The Parkinson Study Group. Neurology. 1990; 40: 1529-1534.
25. Hughes CP, Berg L, Danziger WL, Coben LA, Martin RL. A new clinical scale for the staging of dementia. Br J Psychiatry 1982; 140: 566-S572.
26. Goetz CG, Emre M, Dubois B. Parkinson's disease dementia:definitions, guidelines, and research perspectives in diagnosis. Ann Neurol. 2008; 64( Suppl 2): S81-S92.
27. McKeith IG, Dickson DW, Lowe J, et al. Diagnosis and management of dementia with Lewy bodies:third report of the DLB Consortium. Neurology. 2005; 65: 1863-1872.
28. Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Hum Mutat. 2000; 15: 181-188.
29. Cormand B, Harboe TL, Gort L, et al. Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation. Am J Med Genet. 1998; 80: 343-351.
30. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010; 7: 248-249.
31. Filocamo M, Bonuccelli G, Mazzotti R, et al. Somatic mosaicism in a patient with Gaucher disease type 2:implication for genetic counseling and therapeutic decision-making. Blood Cells Mol Dis. 2000; 26: 611-612.
32. Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med. 2004; 351: 1972-1977.
33. Adams SM, Bosch E, Balaresque PL, et al. The genetic legacy of religious diversity and intolerance: paternal lineages of Christians, Jews, and Muslims in the Iberian Peninsula. Am J Hum Genet. 2008; 83: 725-736.
34. Cormand B, Grinberg D, Gort L, Chabás A, Vilageliu L. Molecular analysis and clinical findings in the Spanish Gaucher disease population:putative haplotype of the N370S ancestral chromosome. Hum Mutat. 1998; 11: 295-305.
35. Mitsui J, Mizuta I, Toyoda A, et al. Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol. 2009; 66: 571-576.
36. Aarsland D, Perry R, Brown A, Larsen JP, Ballard C. Neuropathology of dementia in Parkinson's disease:a prospective, community-based study. Ann Neurol. 2005; 58: 773-776.
37. Harding AJ,Halliday GM. Cortical Lewy body pathology in the diagnosis of dementia. Acta Neuropathol. 2001; 102: 355-363.
38. Hurtig HI, Trojanowski JQ, Galvin J, et al. Alpha-synuclein cortical Lewy bodies correlate with dementia in Parkinson's disease. Neurology. 2000; 54: 1916-1921.
39. Mattila PM, Rinne JO, Helenius H, Dickson DW, Röyttä M. Alpha-synuclein-immunoreactive cortical Lewy bodies are associated with cognitive impairment in Parkinson's disease. Acta Neuropathol. 2000; 100: 285-290.
40. Selikhova M, Williams DR, Kempster PA, Holton JL, Revesz T, Lees AJ. A clinico-pathological study of subtypes in Parkinson's disease. Brain. 2009; 132: 2947-2957.
41. Goker-Alpan O, Stubblefield BK, Giasson BI, Sidransky E. Glucocerebrosidase is present in alpha-synuclein inclusions in Lewy body disorders. Acta Neuropathol. 2010; 120: 641-649.
42. Chu Y, Dodiya H, Aebischer P, Olanow CW, Kordower JH. Alterations in lysosomal and proteasomal markers in Parkinson's disease: relationship to alpha-synuclein inclusions. Neurobiol Dis. 2009; 35: 385-398.
43. Vogiatzi T, Xilouri M, Vekrellis K, Stefanis L. Wild type alpha-synuclein is degraded by chaperone-mediated autophagy and macroautophagy in neuronal cells. J Biol Chem. 2008; 283: 23542-23556.
44. Dehay B, Bove J, Rodriguez-Muela N, et al. Pathogenic lysosomal depletion in Parkinson's disease. J Neurosci. 2010; 30: 12535-12544.
45. Mazzulli JR, Xu YH, Sun Y, et al. Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell. 2011; 146: 37-52.
46. Yap TL, Gruschus JM, Velayati A, et al. Alpha-synuclein interacts with glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseases. JBC. 2011; 286: 28080-28088.