Dorsey ER, Bloem BR. The Parkinson pandemic-a call to action. JAMA Neurol. 2018;75(1):9–10. https://doi.org/10.1001/jamaneurol.2017.3299.
Yang W, Hamilton JL, Kopil C, Beck JC, Tanner CM, Albin RL, et al. Current and projected future economic burden of Parkinson’s disease in the U.S. NPJ Parkinsons Dis. 2020;6:15. https://doi.org/10.1038/s41531-020-0117-1.
Article PubMed PubMed Central Google Scholar
Niotis K, West AB, Saunders-Pullman R. Who to enroll in Parkinson disease prevention trials? The case for genetically at-risk cohorts. Neurol. 2022;99(7 Suppl 1):10–8. https://doi.org/10.1212/WNL.0000000000200812.
Healy DG, Falchi M, O’Sullivan SS, Bonifati V, Durr A, Bressman S, et al. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson’s disease: a case-control study. Lancet Neurol. 2008;7(7):583–90. https://doi.org/10.1016/S1474-4422(08)70117-0.
Article CAS PubMed PubMed Central Google Scholar
Zhang Y, Shu L, Sun Q, Zhou X, Pan H, Guo J, et al. Integrated genetic analysis of racial differences of common GBA variants in Parkinson’s disease: a meta-analysis. Front Mol Neurosci. 2018;11:43. https://doi.org/10.3389/fnmol.2018.00043.
Article CAS PubMed PubMed Central Google Scholar
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(19):1972–7. https://doi.org/10.1056/NEJMoa033277.
Article CAS PubMed Google Scholar
Neumann J, Bras J, Deas E, O’Sullivan SS, Parkkinen L, Lachmann RH, et al. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson’s disease. Brain. 2009;132(Pt 7):1783–94. https://doi.org/10.1093/brain/awp044.
Article PubMed PubMed Central Google Scholar
Petrucci S, Ginevrino M, Trezzi I, Monfrini E, Ricciardi L, Albanese A, et al. GBA-related Parkinson’s disease: dissection of genotype-phenotype correlates in a large Italian cohort. Mov Disord. 2020. https://doi.org/10.1002/mds.28195.
Liu G, Boot B, Locascio JJ, Jansen IE, Winder-Rhodes S, Eberly S, et al. Specifically neuropathic Gaucher’s mutations accelerate cognitive decline in Parkinson’s. Ann Neurol. 2016;80(5):674–85. https://doi.org/10.1002/ana.24781.
Article CAS PubMed PubMed Central Google Scholar
Alcalay RN, Mirelman A, Saunders-Pullman R, Tang MX, Mejia Santana H, Raymond D, et al. Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations. Mov Disord. 2013;28(14):1966–71. https://doi.org/10.1002/mds.25647.
Article CAS PubMed Google Scholar
Saunders-Pullman R, Mirelman A, Alcalay RN, Wang C, Ortega RA, Raymond D, et al. Progression in the LRRK2-asssociated Parkinson disease population. JAMA Neurol. 2018;75(3):312–9. https://doi.org/10.1001/jamaneurol.2017.4019.
Article PubMed PubMed Central Google Scholar
Smith LJ, Lee CY, Menozzi E, Schapira AHV. Genetic variations in GBA1 and LRRK2 genes: biochemical and clinical consequences in Parkinson disease. Front Neurol. 2022;13:971252. https://doi.org/10.3389/fneur.2022.971252.
Article PubMed PubMed Central Google Scholar
Smith LJ, Bolsinger MM, Chau KY, Gegg ME, Schapira AHV. The GBA variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines. Hum Mol Genet. 2022. https://doi.org/10.1093/hmg/ddac233.
Article PubMed PubMed Central Google Scholar
Riboldi GM, Di Fonzo AB. GBA, Gaucher disease, and Parkinson’s disease: from genetic to clinic to new therapeutic approaches. Cells. 2019;8(4):364. https://doi.org/10.3390/cells8040364.
Huang J, Cheng Y, Li C, Shang H. Genetic heterogeneity on sleep disorders in Parkinson’s disease: a systematic review and meta-analysis. Transl Neurodegener. 2022;11(1):21. https://doi.org/10.1186/s40035-022-00294-1.
Article CAS PubMed PubMed Central Google Scholar
• Avenali M, Toffoli M, Mullin S, McNeil A, Hughes DA, Mehta A, et al. Evolution of prodromal parkinsonian features in a cohort of GBA mutation-positive individuals: a 6-year longitudinal study. J Neurol Neurosurg Psychiatry. 2019;90(10):1091–7. https://doi.org/10.1136/jnnp-2019-320394. This study analyses longitudinal changes of prodromal clinical symptoms in a group of GBA1 non-manifesting carriers.
Beavan M, McNeill A, Proukakis C, Hughes DA, Mehta A, Schapira AH. Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort. JAMA Neurol. 2015;72(2):201–8. https://doi.org/10.1001/jamaneurol.2014.2950.
Article PubMed PubMed Central Google Scholar
Krohn L, Ruskey JA, Rudakou U, Leveille E, Asayesh F, Hu MTM, et al. GBA variants in REM sleep behavior disorder: a multicenter study. Neurol. 2020;95(8):e1008–16. https://doi.org/10.1212/WNL.0000000000010042.
Barber TR, Lawton M, Rolinski M, Evetts S, Baig F, Ruffmann C, et al. Prodromal Parkinsonism and neurodegenerative risk stratification in REM sleep behavior disorder. Sleep. 2017;40(8):zsx071. https://doi.org/10.1093/sleep/zsx071.
Heinzel S, Berg D, Gasser T, Chen H, Yao C, Postuma RB, et al. Update of the MDS research criteria for prodromal Parkinson’s disease. Mov Disord. 2019;34(10):1464–70. https://doi.org/10.1002/mds.27802.
Horsager J, Andersen KB, Knudsen K, Skjaerbaek C, Fedorova TD, Okkels N, et al. Brain-first versus body-first Parkinson’s disease: a multimodal imaging case-control study. Brain. 2020;143(10):3077–88. https://doi.org/10.1093/brain/awaa238.
McNeill A, Duran R, Proukakis C, Bras J, Hughes D, Mehta A, et al. Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord. 2012;27(4):526–32. https://doi.org/10.1002/mds.24945.
Article PubMed PubMed Central Google Scholar
Mullin S, Beavan M, Bestwick J, McNeill A, Proukakis C, Cox T, et al. Evolution and clustering of prodromal parkinsonian features in GBA1 carriers. Mov Disord. 2019;34(9):1365–73. https://doi.org/10.1002/mds.27775.
Article CAS PubMed PubMed Central Google Scholar
Moran EE, Bressman SB, Ortega RA, Raymond D, Nichols WC, Palmese CA, et al. Cognitive functioning of glucocerebrosidase (GBA) non-manifesting carriers. Front Neurol. 2021;12:635958. https://doi.org/10.3389/fneur.2021.635958.
Article PubMed PubMed Central Google Scholar
Thaler A, Omer N, Giladi N, Gurevich T, Bar-Shira A, Gana-Weisz M, et al. Biochemical markers for severity and risk in GBA and LRRK2 Parkinson’s disease. J Neurol. 2021;268(4):1517–25. https://doi.org/10.1007/s00415-020-10325-4.
Article CAS PubMed Google Scholar
Thaler A, Omer N, Giladi N, Gurevich T, Bar-Shira A, Gana-Weisz M, et al. Mutations in GBA and LRRK2 are not associated with increased inflammatory markers. J Parkinsons Dis. 2021;11(3):1285–96. https://doi.org/10.3233/JPD-212624.
Article CAS PubMed PubMed Central Google Scholar
Galper J, Balwani M, Fahn S, Waters C, Krohn L, Gan-Or Z, et al. Cytokines and Gaucher biomarkers in glucocerebrosidase carriers with and without Parkinson disease. Mov Disord. 2021;36(6):1451–5. https://doi.org/10.1002/mds.28525.
Article CAS PubMed PubMed Central Google Scholar
Omer N, Giladi N, Gurevich T, Bar-Shira A, Gana-Weisz M, Glinka T, et al. Glucocerebrosidase activity is not associated with Parkinson’s disease risk or severity. Mov Disord. 2022;37(1):190–5. https://doi.org/10.1002/mds.28792.
Article CAS PubMed Google Scholar
Moran EE, Wang C, Katz M, Ozelius L, Schwartz A, Pavlovic J, et al. Cognitive and motor functioning in elderly glucocerebrosidase mutation carriers. Neurobiol Aging. 2017;58(239):e1–7. https://doi.org/10.1016/j.neurobiolaging.2017.06.010.
Pachi I, Koros C, Simitsi AM, Papadimitriou D, Bougea A, Prentakis A, et al. Apathy: an underestimated feature in GBA and LRRK2 non-manifesting mutation carriers. Parkinsonism Relat Disord. 2021;91:1–8. https://doi.org/10.1016/j.parkreldis.2021.08.008.
Article CAS PubMed Google Scholar
Gatto EM, Etcheverry JL, Sanguinetti A, Cesarini M, Fernandez Escobar N, Drelichman G. Prodromal clinical markers of Parkinson disease in Gaucher disease individuals. Eur Neurol. 2016;76(1–2):19–21. https://doi.org/10.1159/000447510.
Article CAS PubMed Google Scholar
Pont-Sunyer C, Tolosa E, Caspell-Garcia C, Coffey C, Alcalay RN, Chan P, et al. The prodromal phase of leucine-rich repeat kinase 2-associated Parkinson disease: clinical and imaging Studies. Mov Disord. 2017;32(5):726–38. https://doi.org/10.1002/mds.26964.
Article CAS PubMed Google Scholar
• Simuni T, Uribe L, Cho HR, Caspell-Garcia C, Coffey CS, Siderowf A, et al. Clinical and dopamine transporter imaging characteristics of non-manifest LRRK2 and GBA mutation carriers in the Parkinson’s Progression Markers Initiative (PPMI): a cross-sectional study. Lancet Neurol. 2020;19(1):71–80. https://doi.org/10.1016/S1474-4422(19)30319-9. This study reports the analysis of both clinical and imaging characteristics in a large group of non-manifesting carriers of GBA1 and LRRK2 variants.
Mirelman A, Bernad-Elazari H, Thaler A, Giladi-Yacobi E, Gurevich T, Gana-Weisz M, et al. Arm swing as a potential new prodromal marker of Parkinson’s disease. Mov Disord. 2016;31(10):1527–34. https://doi.org/10.1002/mds.26720.
Article CAS PubMed PubMed Central Google Scholar
Mirelman A, Gurevich T, Giladi N, Bar-Shira A, Orr-Urtreger A, Hausdorff JM. Gait alterations in healthy carriers of the LRRK2 G2019S mutation. Ann Neurol. 2011;69(1):193–7. https://doi.org/10.1002/ana.22165.
Sanchez-Rodriguez A, Tirnauca C, Salas-Gomez D, Fernandez-Gorgojo M, Martinez-Rodriguez I, Sierra M, et al. Sensor-based gait analysis in the premotor stage of LRRK2 G2019S-associated Parkinson’s disease. Parkinsonism Relat Disord. 2022;98:21–6. https://doi.org/10.1016/j.parkreldis.2022.03.020.
留言 (0)