Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's

Annals of Neurology

Volumn 80, Issue 5, 2016, Pages 674-685

  Liu, Ganqiang ^a   Boot, Brendon ^a,b   Locascio, Joseph J ^a,c   Jansen, Iris E ^d,e   Winder Rhodes, Sophie ^f   Eberly, Shirley ^g   Elbaz, Alexis ^h   Brice, Alexis ⁱ   Ravina, Bernard ^j   van Hilten, Jacobus J ^k   Cormier Dequaire, Florence ⁱ   Corvol, Jean Christophe ⁱ   Barker, Roger A ^f,l   Heutink, Peter ^d,e   Marinus, Johan ^k   Williams Gray, Caroline H ^f,l   Scherzer, Clemens R ^a,b,c   Scherzer, C ^l   Hyman, B T ^l   Ivinson, A J ^l   Trisini Lipsanopoulos, A ^l   Franco, D ^l,l   Burke, K ^l   Sudarsky, L R ^l   Hayes, M T ^l   Umeh, C C ^l   Growdon, J H ^l   Schwarzschild, M A ^l   Hung, A Y ^l   Flaherty, A W ^l   Wills, A M ^l   Mejia, N I ^l   Gomperts, S N ^l   Khurana, V ^l   Selkoe, D J ^l   Yi, T ^l,l   Page, K ^l,l   Liao, Z ^l,l   Foltynie, T ^l   Mason, S ^l   Winder Rhodes, S ^l   Breen, D ^l   Cummins, G ^l   Evans, J ^l   Corvol, J C ^l   Brice, A ^l   Elbaz, A ^l   Mallet, A ^l   Vidailhet, M ^l   Bonnet, A M ^l   Bonnet, C ^l   Grabli, D ^l   Hartmann, A ^l   Klebe, S ^l   Lacomblez, L ^l   Mangone, G ^l   Bourdain, F ^l   Brandel, J P ^l   Derkinderen, P ^l   Durif, F ^l   Mesnage, V ^l   Pico, F ^l   Rascol, O ^l   Forlani, S ^l   Lesage, S ^l   Tahiri, K ^l   van Hilten, J J ^l   Marinus, J ^l   Duong, K ^l   Dong, X ^l   Hutten, S J ^l   Amr, S S ^l   Shoulson, I ^l   Tanner, C M ^l   Lang, A E ^l   Nalls, M A ^l   more..

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b The Harvard Center for Neurodegeneration & Repair   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^f UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^g UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^h CENTRE FOR RESEARCH IN EPIDEMIOLOGY AND POPULATION HEALTH   (France)

ⁱ PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^j VOYAGER THERAPEUTICS   (United States)

^k LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^l Clinical Development ^*

more..

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLUCOCEREBROSIDASE; GLUCOSYLCERAMIDASE; LEVODOPA; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; COGNITIVE DEFECT; DISEASE COURSE; FEMALE; GAUCHER DISEASE; GENE MUTATION; GENETIC VARIATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MINI MENTAL STATE EXAMINATION; PARKINSON DISEASE; PRIORITY JOURNAL; COGNITIVE DYSFUNCTION; COMPLICATION; GENETICS; LONGITUDINAL STUDY; MIDDLE AGED; VERY ELDERLY;

AGED; AGED, 80 AND OVER; COGNITIVE DYSFUNCTION; DISEASE PROGRESSION; FEMALE; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; LONGITUDINAL STUDIES; MALE; MIDDLE AGED; PARKINSON DISEASE;

EID: 84995745476     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24781     Document Type: Article

References (50)

1. Schrag A, Jahanshahi M, Quinn N. What contributes to quality of life in patients with Parkinson's disease? J Neurol Neurosurg Psychiatry 2000;69:308–312.
2. Hruska KS, LaMarca ME, Scott CR, Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat 2008;29:567–583.
3. Grabowski GA, Zimran A, Ida H. Gaucher disease types 1 and 3: phenotypic characterization of large populations from the ICGG Gaucher Registry. Am J Hematol 2015;90(suppl 1):S12–S18.
4. 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.
5. Siebert M, Sidransky E, Westbroek W. Glucocerebrosidase is shaking up the synucleinopathies. Brain 2014;137(pt 5):1304–1322.
6. Winder-Rhodes SE, Evans JR, Ban M, et al. Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort. Brain 2013;136(pt 2):392–399.
7. Brockmann K, Srulijes K, Pflederer S, et al. GBA-associated Parkinson's disease: reduced survival and more rapid progression in a prospective longitudinal study. Move Disord 2015;30:407–411.
8. Davis AA, Andruska KM, Benitez BA, et al. Variants in GBA, SNCA, and MAPT influence Parkinson disease risk, age at onset, and progression. Neurobiol Aging 2016;37:209.e1–7.
9. Oeda T, Umemura A, Mori Y, et al. Impact of glucocerebrosidase mutations on motor and nonmotor complications in Parkinson's disease. Neurobiol Aging 2015;36:3306-3313.
10. Locascio JJ, Eberly S, Liao Z, et al. Association between alpha-synuclein blood transcripts and early, neuroimaging-supported Parkinson's disease. Brain 2015;138(pt 9):2659–2671.
11. Williams-Gray CH, Mason SL, Evans JR, et al. The CamPaIGN study of Parkinson's disease: 10-year outlook in an incident population-based cohort. J Neurol Neurosurg Psychiatry 2013;84:1258–1264.
12. Marinus J, Visser M, Stiggelbout AM, et al. A short scale for the assessment of motor impairments and disabilities in Parkinson's disease: the SPES/SCOPA. J Neurol Neurosurg Psychiatry 2004;75:388–395.
13. Ravina B, Tanner C, Dieuliis D, et al. A longitudinal program for biomarker development in Parkinson's disease: a feasibility study. Mov Disord 2009;24:2081–2090.
14. Breen DP, Evans JR, Farrell K, Brayne C, Barker RA. Determinants of delayed diagnosis in Parkinson's disease. J Neurol 2013;260:1978–1981.
15. 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.
16. Verbaan D, Marinus J, Visser M, et al. Patient-reported autonomic symptoms in Parkinson disease. Neurology 2007;69:333–341.
17. Foltynie T, Brayne CE, Robbins TW, Barker RA. The cognitive ability of an incident cohort of Parkinson's patients in the UK. The CamPaIGN study. Brain 2004;127(pt 3):550–560.
18. Breen DP, Vuono R, Nawarathna U, et al. Sleep and circadian rhythm regulation in early Parkinson disease. JAMA Neurol 2014;71:589–595.
19. Ding H, Sarokhan AK, Roderick SS, et al. Association of SNCA with Parkinson: replication in the Harvard NeuroDiscovery Center Biomarker Study. Mov Disord 2011;26:2283–2286.
20. Scherzer CR. Chipping away at diagnostics for neurodegenerative diseases. Neurobiol Dis 2009;35:148–156.
21. Pankratz N, Beecham GW, DeStefano AL, et al. Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. Ann Neurol 2012;71:370–384.
22. Ding H, Dhima K, Lockhart KC, et al. Unrecognized vitamin D3 deficiency is common in Parkinson disease: Harvard Biomarker Study. Neurology 2013;81:1531–1537.
23. DATATOP: a multicenter controlled clinical trial in early Parkinson's disease. Parkinson Study Group. Arch Neurol 1989;46:1052–1060.
24. Williams-Gray CH, Evans JR, Goris A, et al. The distinct cognitive syndromes of Parkinson's disease: 5 year follow-up of the CamPaIGN cohort. Brain 2009;132(pt 11):2958–2969.
25. 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;46:989–993.
26. Hughes AJ, Daniel SE, Ben-Shlomo Y, Lees AJ. The accuracy of diagnosis of parkinsonian syndromes in a specialist movement disorder service. Brain 2002;125(pt 4):861–870.
27. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009;25:1754–1760.
28. McKenna A, Hanna M, Banks E, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010;20:1297–1303.
29. Lesage S, Anheim M, Condroyer C, et al. Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Hum Mol Genet 2011;20:202–210.
30. Nichols WC, Pankratz N, Marek DK, et al. Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology 2009;72:310–316.
31. Liou B, Grabowski GA. Is E326K glucocerebrosidase a polymorphic or pathological variant? Mol Genet Metab 2012;105:528–529.
32. Locascio JJ, Atri A. An overview of longitudinal data analysis methods for neurological research. Dement Geriatr Cogn Dis Extra 2011;1:330–357.
33. Team RDC. R: A language and environment for statistical computing. Vienna: R Foundation for Statistical Computing; 2014.
34. Dubois B, Burn D, Goetz C, et al. Diagnostic procedures for Parkinson's disease dementia: recommendations from the movement disorder society task force. Mov Disord 2007;22:2314–2324.
35. Allison PD. Missing Data-Quantitative Applications in the Social Sciences. Thousand Oaks, CA: Sage Publications; 2002.
36. Goetz CG, Poewe W, Rascol O, et al. Movement Disorder Society Task Force report on the Hoehn and Yahr staging scale: status and recommendations. Mov disord 2004;19:1020–1028.
37. Alcalay RN, Levy OA, Waters CC, et al. Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations. Brain 2015;138:2648–2658.
38. Ritz B, Rhodes SL, Bordelon Y, Bronstein J. alpha-Synuclein genetic variants predict faster motor symptom progression in idiopathic Parkinson disease. PLoS One 2012;7:e36199.
39. Gan-Or Z, Giladi N, Rozovski U, et al. Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset. Neurology 2008;70:2277–83.
40. Gan-Or Z, Amshalom I, Kilarski LL, et al. Differential effects of severe vs mild GBA mutations on Parkinson disease. Neurology 2015;84:880–887.
41. Hoops S, Nazem S, Siderowf AD, et al. Validity of the MoCA and MMSE in the detection of MCI and dementia in Parkinson disease. Neurology 2009;73:1738–1745.
42. Gilks WP, Abou-Sleiman PM, Gandhi S, et al. A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet 2005;365:415–416.
43. Guella I, Evans DM, Szu-Tu C, et al. alpha-synuclein genetic variability: a biomarker for dementia in Parkinson disease. Ann Neurol 2016;79:991–999.
44. Zhu K, van Hilten JJ, Marinus J. Predictors of dementia in Parkinson's disease; findings from a 5-year prospective study using the SCOPA-COG. Parkinsonism Relat Disord 2014;20:980–985.
45. Gegg ME, Burke D, Heales SJ, et al. Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains. Ann Neurol 2012;72:455–463.
46. Malini E, Grossi S, Deganuto M, et al. Functional analysis of 11 novel GBA alleles. Eur J Hum Genet 2014;22:511–516.
47. Cullen V, Sardi SP, Ng J, et al. Acid beta-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter alpha-synuclein processing. Ann Neurol 2011;69:940–953.
48. Schondorf DC, Aureli M, McAllister FE, et al. iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis. Nat Commun 2014;5:4028.
49. Mazzulli JR, Xu YH, Sun Y, et al. Gaucher disease glucocerebrosidase and alpha-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell 2011;146:37–52.
50. Sardi SP, Clarke J, Kinnecom C, et al. CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy. Proc Natl Acad Sci U S A 2011;108:12101–12106.