GBA Mutations Are Associated With Earlier Onset and Male Sex in Dementia With Lewy Bodies

Movement Disorders

Volumn 31, Issue 7, 2016, Pages 1066-1070

  Gámez Valero, Ana ^a,b   Prada Dacasa, Patricia ^a,c   Santos, Cristina ^c   Adame Castillo, Cristina ^a   Campdelacreu, Jaume ^d   Reñé, Ramón ^d   Gascón Bayarri, Jordi ^d   Ispierto, Lourdes ^e   Álvarez, Ramiro ^e   Ariza, Aurelio ^a   Beyer, Katrin ^a  

^a FUNDACIÓ INSTITUT D INVESTIGACIÓ EN CIÈNCIES DE LA SALUT GERMANS TRIAS I PUJOL   (Spain)

^b Germans Trias i Pujol Research Institute in Health Sciences   (Spain)

^c UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^d HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^e HOSPITAL UNIVERSITARI GERMANS TRIAS I PUJOL   (Spain)

Author keywords

dementia with Lewy bodies; GBA mutations; Parkinson's disease

Indexed keywords

GLUCOSYLCERAMIDASE; MESSENGER RNA;

ADULT; AGED; ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; DIFFUSE LEWY BODY DISEASE; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MIDDLE AGED; MUTATION RATE; NEUROPATHOLOGY; ONSET AGE; PARKINSON DISEASE; PRIORITY JOURNAL; RNA SEQUENCE; SEX DIFFERENCE; SPANIARD;

EID: 84977485991     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.26593     Document Type: Article

References (33)

1. Spillantini MG, Crowther RA, Jakes R, et al. Alpha-synuclein in filamentous inclusions of Lewy bodies from Parkinson's disease and dementia with lewy bodies. Proc Natl Acad Sci U S A 1998;95:6469–6473.
2. Braak H, Braak E. Neuropathological staging of Alzheimer-related changes. Acta Neuropathol 1991;82:239–259.
3. Aarsland D, Andersen K, Larsen JP, et al. Prevalence and characteristics of dementia in Parkinson disease: an 8-year prospective study. Arch Neurol 2003;60:387–392.
4. Emre M. Dementia associated with Parkinson's disease. Lancet Neurol 2003;2:229–237.
5. Beutler E, Grabowski GA. Glucosylceramide lipidosis–Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Diseases. 8th ed. 2001:3635–3668.
6. Chiasserini D, Paciotti S, Eusebi P, et al. Selective loss of glucocerebrosidase activity in sporadic Parkinson's disease and dementia with Lewy bodies. Mol Neurodegener 2015;10:15–21.
7. Tayebi N, Callahan M, Madike V, et al. Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. Mol Genet Metab 2001;73:313–321.
8. Tayebi N, Walker J, Stubblefield B, et al. Gaucher disease with parkinsonian manifestations: Does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab 2003;79:104–109.
9. Bembi B, Zambito Marsala S, Sidransky E, et al. Gaucher's disease with Parkinson's disease: clinical and pathological aspects. Neurology 2003;61:99–101.
10. Goker-Alpan O, Schiffmann R, LaMarca ME, et al. Parkinsonism among Gaucher disease carriers. J Med Genet 2004;41:937–940.
11. Lwin A, Orvisky E, Goker-Alpan O, et al. Glucocerebrosidase mutations in subjects with parkinsonism. Mol Genet Metab 2004;81:70–73.
12. Eblan MJ, Nguyen J, Ziegler SG, et al. Glucocerebrosidase mutations are also found in subjects with early-onset Parkinsonism from Venezuela. Mov Disord 2006;21:282–283.
13. 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.
14. Mata IF, Samii A, Schneer SH, et al. Glucocerebrosidase Gene Mutations: A risk factor for Lewy Body disorders. Arch Neurol 2008;65:379–382.
15. Siebert M, Sidransky E, Westbroek W Glucocerebrosidase is shaking up the synucleinopathies. Brain 2014;137:1304–1322.
16. Murphy KE, Halliday GM. Glucocerebrosidase deficits in sporadic Parkinson disease. Autophagy 2014;10:1350–1351.
17. Sidransky E, Nalls MA, Aasly JO, et al. Multi-center analysis of glucocerebrosidase mutations in Parkinson disease. N Engl J Med 2009;361:1651–1661.
18. Nalls MA, Duran R, Lopez G, et al. A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol 2013;70:727–735.
19. Cullen V, Sardi SP, Ng J, et al. Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing. Ann Neurol 2011;69:940–953.
20. Mazzulli JR, Xu Y-H, Sun Y, et al. Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies. Cell 2011;146:37–52.
21. Setó-Salvia N, Pagonabarraga J, Houlden H, et al. Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course. Mov Disord 2012;27:393–399.
22. Horowitz M, Pasmanik-Chor M, Ron I, Kolodny EH. The enigma of the E326K mutation in acid β-glucocerebrosidase. Mol Genet Metab 2011;104:35–38.
23. 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.
24. Kim JW, Liou BB, Lai MY, et al. Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations. Hum Mutat 1996;7:214–218.
25. Beutler E, Gelbart T. Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis 1998;24:2–8.
26. 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.
27. Braak H, Tredici K Del, Rüb U, et al. Staging of brain pathology related to sporadic Parkinson's disease. Neurobiol Aging 2003;24:197–211.
28. 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.
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. Mata IF, Leverenz JB, Weintraub D et al. GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease. Mov Disord 2016;31:95–102.
31. Clark LN, Kartsaklis LA, Gilbert RW et al. Association of Glucocerebrosidase mutations with Dementia with Lewy Bodies. Arch Neurol 2009;66:578–583.
32. Tsuang D, Leverenz JB, Lopez OL et al. GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology. Neurology 2012; 79: 1944–1950.
33. 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.