Cerebrospinal fluid lysosomal enzymes and alpha-synuclein in Parkinson's disease

Movement Disorders

Volumn 29, Issue 8, 2014, Pages 1019-1027

  Parnetti, Lucilla ^a   Chiasserini, Davide ^a,b   Persichetti, Emanuele ^a   Eusebi, Paolo ^c   Varghese, Shiji ^d   Qureshi, Mohammad M ^d   Dardis, Andrea ^e   Deganuto, Marta ^e   De Carlo, Claudia ^a   Castrioto, Anna ^a   Balducci, Chiara ^a   Paciotti, Silvia ^a   Tambasco, Nicola ^a   Bembi, Bruno ^e   Bonanni, Laura ^f   Onofrj, Marco ^f   Rossi, Aroldo ^a   Beccari, Tommaso ^a   El Agnaf, Omar ^d,g   Calabresi, Paolo ^a,b  

^a UNIVERSITY OF PERUGIA   (Italy)

^b IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^c Regional Health Authority of Umbria   (Italy)

^d UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^e SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

^f UNIVERSITY OF CHIETI   (Italy)

^g Aziz University   (Saudi Arabia)

Author keywords

Alpha synuclein; Beta glucocerebrosidase; CSF biomarkers; Lysosomal enzymes; Parkinson's disease

Indexed keywords

ALPHA MANNOSIDASE; ALPHA SYNUCLEIN; BETA GALACTOSIDASE; BETA MANNOSIDASE; BETA N ACETYLHEXOSAMINIDASE; DOPAMINE RECEPTOR STIMULATING AGENT; GLUCOSYLCERAMIDASE; LEVODOPA; TAU PROTEIN; GLYCOSIDASE;

ADULT; AREA UNDER THE CURVE; ARTICLE; CEREBROSPINAL FLUID ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; ENZYMATIC ASSAY; ENZYME ACTIVITY; ENZYME ASSAY; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENETIC SCREENING; HUMAN; LUMBAR PUNCTURE; MAJOR CLINICAL STUDY; MALE; MINI MENTAL STATE EXAMINATION; PARKINSON DISEASE; PATHOGENESIS; PREDICTIVE VALUE; PRIORITY JOURNAL; PROSPECTIVE STUDY; PROTEIN CEREBROSPINAL FLUID LEVEL; RECEIVER OPERATING CHARACTERISTIC; SENSITIVITY AND SPECIFICITY; UNIFIED PARKINSON DISEASE RATING SCALE; AGED; CEREBROSPINAL FLUID; GENETICS; GENOTYPE; IMMUNOASSAY; MIDDLE AGED; MUTATION;

ADULT; AGED; ALPHA-SYNUCLEIN; FEMALE; GENOTYPE; GLUCOSYLCERAMIDASE; GLYCOSIDE HYDROLASES; HUMANS; IMMUNOASSAY; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; PROSPECTIVE STUDIES; TAU PROTEINS;

EID: 84904427435     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25772     Document Type: Article

References (45)

1. Trojanowski JQ, Lee VM. Aggregation of neurofilament and alpha-synuclein proteins in Lewy bodies: implications for the pathogenesis of Parkinson disease and Lewy body dementia. Arch Neurol 1998;55:151-152.
2. Conway KA, Lee SJ, Rochet JC, Ding TT, Williamson RE, Lansbury PT Jr. Acceleration of oligomerization, not fibrillization, is a shared property of both alpha-synuclein mutations linked to early-onset Parkinson's disease: implications for pathogenesis and therapy. Proc Natl Acad Sci U S A 2000;97:571-576.
3. Karpinar DP, Balija MB, Kugler S, et al. Pre-fibrillar alpha-synuclein variants with impaired beta-structure increase neurotoxicity in Parkinson's disease models. EMBO J 2009;28:3256-3268.
4. Winner B, Jappelli R, Maji SK, et al. In vivo demonstration that alpha-synuclein oligomers are toxic. Proc Natl Acad Sci U S A 2011;108:4194-4199.
5. Spillantini MG, Schmidt ML, Lee VM, Trojanowski JQ, Jakes R, Goedert M. Alpha-synuclein in Lewy bodies. Nature 1997;388:839-840.
6. Webb JL, Ravikumar B, Atkins J, Skepper JN, Rubinsztein DC. Alpha-synuclein is degraded by both autophagy and the proteasome. J Biol Chem 2003;278:25009-25013.
7. Cuervo AM, Stefanis L, Fredenburg R, Lansbury PT, Sulzer D. Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy. Science 2004;305:1292-1295.
8. Lee HJ, Khoshaghideh F, Patel S, Lee SJ. Clearance of alpha-synuclein oligomeric intermediates via the lysosomal degradation pathway. J Neurosci 2004;24:1888-1896.
9. 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.
10. Pan T, Kondo S, Le W, Jankovic J. The role of autophagy-lysosome pathway in neurodegeneration associated with Parkinson's disease. Brain 2008;131(Pt 8):1969-1978.
11. Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet 2008;372:1263-1271.
12. 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.
13. Roze E, Paschke E, Lopez N, et al. Dystonia and parkinsonism in GM1 type 3 gangliosidosis. Mov Disord 2005;20:1366-1369.
14. Suzuki K, Iseki E, Togo T, et al. Neuronal and glial accumulation of alpha- and beta-synucleins in human lipidoses. Acta Neuropathol 2007;114:481-489.
15. Tokuda T, Salem SA, Allsop D, et al. Decreased alpha-synuclein in cerebrospinal fluid of aged individuals and subjects with Parkinson's disease. Biochem Biophys Res Commun 2006;349:162-166.
16. Mollenhauer B, Cullen V, Kahn I, et al. Direct quantification of CSF alpha-synuclein by ELISA and first cross-sectional study in patients with neurodegeneration. Exp Neurol 2008;213:315-325.
17. Mollenhauer B, Locascio JJ, Schulz-Schaeffer W, Sixel-Doring F, Trenkwalder C, Schlossmacher MG. alpha-Synuclein and tau concentrations in cerebrospinal fluid of patients presenting with parkinsonism: a cohort study. Lancet Neurol 2011;10:230-240.
18. Hong Z, Shi M, Chung KA, et al. DJ-1 and alpha-synuclein in human cerebrospinal fluid as biomarkers of Parkinson's disease. Brain 2010;133(Pt 3):713-726.
19. Parnetti L, Chiasserini D, Bellomo G, et al. Cerebrospinal fluid Tau/alpha-synuclein ratio in Parkinson's disease and degenerative dementias. Mov Disord 2011;26:1428-1435.
20. Tokuda T, Qureshi MM, Ardah MT, et al. Detection of elevated levels of alpha-synuclein oligomers in CSF from patients with Parkinson disease. Neurology 2010;75:1766-1772.
21. Bruggink KA, Kuiperij HB, Ekholm-Pettersson F, Verbeek MM. Detection of elevated levels of alpha-synuclein oligomers in CSF from patients with Parkinson disease. Neurology 2011;77:510; author reply 510-511.
22. Balducci C, Pierguidi L, Persichetti E, et al. Lysosomal hydrolases in cerebrospinal fluid from subjects with Parkinson's disease. Mov Disord 2007;22:1481-1484.
23. Parnetti L, Balducci C, Pierguidi L, et al. Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in dementia with Lewy bodies. Neurobiol Dise 2009;34:484-486.
24. Teunissen CE, Petzold A, Bennett JL, et al. A consensus protocol for the standardization of cerebrospinal fluid collection and biobanking. Neurology 2009;73:1914-1922.
25. Koprivica V, Stone DL, Park JK, et al. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet 2000;66:1777-1786.
26. Glas AS, Lijmer JG, Prins MH, Bonsel GJ, Bossuyt PM. The diagnostic odds ratio: a single indicator of test performance. J Clin Epidemiol 2003;56:1129-1135.
27. Lesage S, Anheim M, Condroyer C, et al.; French Parkinson's Disease Genetics Study Group. Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Hum Mol Genet 2011;20:202-210.
28. Lwin A, Orvisky E, Goker-Alpan O, LaMarca ME, Sidransky E. Glucocerebrosidase mutations in subjects with parkinsonism. Mol Genet Metab 2004;81:70-73.
29. Neudorfer O, Giladi N, Elstein D, et al. Occurrence of Parkinson's syndrome in type I Gaucher disease. QJM 1996;89:691-694.
30. 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.
31. 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.
32. Anheim M, Elbaz A, Lesage S, et al. Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers. Neurology 2012;78:417-420.
33. 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.
34. 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.
35. Siebert M, Donis KC, Socal M, et al. Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3. Parkinsonism Relat Disord 2012;18:185-190.
36. Gegg ME, Burke D, Heales SJ, et al. Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains. Ann Neurol 2012;72:455-463.
37. 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.
38. 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.
39. Dermentzaki G, Dimitriou E, Xilouri M, Michelakakis H, Stefanis L. Loss of beta-glucocerebrosidase activity does not affect alpha-synuclein levels or lysosomal function in neuronal cells. PloS One 2013;8:e60674.
40. Natowicz MR, Prence EM, Cajolet A. Marked variation in blood beta-hexosaminidase in Gaucher disease. Clin Chim Acta 1991;203:17-22.
41. Di Pasquale E, Fantini J, Chahinian H, Maresca M, Taieb N, Yahi N. Altered ion channel formation by the Parkinson's-disease-linked E46K mutant of alpha-synuclein is corrected by GM3 but not by GM1 gangliosides. J Mol Biol 2011;397:202-218.
42. van Dijk KD, Persichetti E, Chiasserini D, et al. Changes in endolysosomal enzyme activities in cerebrospinal fluid of patients with Parkinson's disease. Mov Disord 2013;28:747-754.
43. Parnetti L. Biochemical diagnosis of neurodegenerative diseases gets closer. Lancet Neurol 2011;10:203-205.
44. Shi M, Bradner J, Hancock AM, et al. Cerebrospinal fluid biomarkers for Parkinson disease diagnosis and progression. Ann Neurol 2011;69:570-580.
45. van Dijk KD, Bidinosti M, Weiss A, Raijmakers P, Berendse HW, van de Berg WD. Reduced alpha-synuclein levels in cerebrospinal fluid in Parkinson's disease are unrelated to clinical and imaging measures of disease severity. Eur J Neurol (in press) [Epub 2013 Apr 30. DOI: 10.1111/ene.12176].