The Neuropsychiatric and Motor Profile of GBA-Associated Parkinson's Disease: A Review

Movement Disorders Clinical Practice

Volumn 3, Issue 1, 2016, Pages 4-8

  Pal, Gian ^a   Robertson, Erin ^a   O'Keefe, Joan ^a   Hall, Deborah ^a  

^a RUSH MEDICAL COLLEGE   (United States)

Author keywords

GBA; Genetics; Glucocerebrosidase; Parkinson's disease

Indexed keywords

GLUCOSYLCERAMIDASE;

BECK DEPRESSION INVENTORY; BRADYKINESIA; CLINICAL FEATURE; COGNITION; COGNITIVE DEFECT; DEPRESSION; GENE MUTATION; HAMILTON DEPRESSION RATING SCALE; HUMAN; MINI INTERNATIONAL NEUROPSYCHIATRIC INTERVIEW; PARKINSON DISEASE; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; REVIEW; TASK PERFORMANCE; VISUAL MEMORY;

EID: 84986885539     PISSN: None     EISSN: 23301619     Source Type: Journal    
DOI: 10.1002/mdc3.12229     Document Type: Review

References (36)

1. Alcalay RN, Dinur T, Quinn T, et al. Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes. JAMA Neurol 2014;71:752-757.
2. Mayeux R, Chen J, Mirabello E, et al. An estimate of the incidence of dementia in idiopathic Parkinson's disease. Neurology 1990;40:1513-1517.
3. Aarsland D, Andersen K, Larsen JP, Lolk A, Nielsen H, Kragh-Sørensen P. Risk of dementia in Parkinson's disease: a community-based, prospective study. Neurology 2001;56:730-736.
4. Aarsland D, Brønnick K, Ehrt U, De Deyn PP, Tekin S, Emre M, Cummings JL. Neuropsychiatric symptoms in patients with Parkinson's disease and dementia: frequency, profile and associated care giver stress. J Neurol Neurosurg Psychiatry 2007;78:36-42.
5. Bronnick K, Ehrt U, Emre M, De Deyn PP, Wesnes K, Tekin S, Aarsland D. Attentional deficits affect activities of daily living in dementia-associated with Parkinson's disease. J Neurol Neurosurg Psychiatry 2006;77:1136-1142.
6. Levy G, Tang MX, Louis ED, et al. The association of incident dementia with mortality in PD. Neurology 2002;59:1708-1713.
7. 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.
8. 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;136:392-399.
9. Neil JF, Glew RH, Peters SP. Familial psychosis and diverse neurologic abnormalities in adult-onset Gaucher's disease. Arch Neurol 1979;36:95-99.
10. Alcalay RN, Mejia-Santana H, Tang MX, et al. Self-report of cognitive impairment and mini-mental state examination performance in PRKN, LRRK2, and GBA carriers with early onset Parkinson's disease. J Clin Exp Neuropsychol 2010;32:775-779.
11. Alcalay RN, Caccappolo E, Mejia-Santana H, et al. Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study. Neurology 2012;78:1434-1440.
12. van Steenoven I, Aarsland D, Hurtig H, et al. Conversion between Mini-Mental State Examination, Montreal Cognitive Assessment, and Dementia Rating Scale-2 scores in Parkinson's disease. Mov Disord 2014;29:1809-1815.
13. Brockmann K, Srulijes K, Pflederer S, et al. GBA-associated Parkinson's disease: reduced survival and more rapid progression in a prospective longitudinal study. Mov Disord 2015;30:407-411.
14. 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.
15. Zokaei N, McNeill A, Proukakis C, et al. Visual short-term memory deficits associated with GBA mutation and Parkinson's disease. Brain 2014;137:2303-2311.
16. Benton AL. A visual retention test for clinical use. Arch Neurol Psychiatry 1945;54:212-216.
17. Duchaine BC, Weidenfeld A. An evaluation of two commonly used tests of unfamiliar face recognition. Neuropsychologia 2003;41:713-720.
18. Brockmann K, Srulijes K, Hauser AK, Schulte C, Csoti I, Gasser T, Berg D. GBA-associated PD presents with nonmotor characteristics. Neurology 2011;77:276-280.
19. Malec-Litwinowicz M, Rudzińska M, Szubiga M, Michalski M, Tomaszewski T, Szczudlik A. Cognitive impairment in carriers of glucocerebrosidase gene mutation in Parkinson disease patients. Neurol Neurochir Pol 2014;48:258-261.
20. Wang C, Cai Y, Gu Z, et al. Clinical profiles of Parkinson's disease associated with common leucine-rich repeat kinase 2 and glucocerebrosidase genetic variants in Chinese individuals. Neurobiol Aging 2014;35:725.e1-6.
21. Goker-Alpan O, Lopez G, Vithayathil J, Davis J, Hallett M, Sidransky E. The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. Arch Neurol 2008;65:1353-1357.
22. Neumann J, Bras J, Deas E, et al. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain 2009;132:1783-1794.
23. Saunders-Pullman R, Hagenah J, Dhawan V, et al. Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization. Mov Disord 2010;25:1364-1372.
24. Li Y, Sekine T, Funayama M, et al. Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease. Neurobiol Aging 2014;35:935.e3-8.
25. Asselta R, Rimoldi V, Siri C, et al. Glucocerebrosidase mutations in primary parkinsonism. Parkinsonism Relat Disord 2014;20:1215-1220.
26. Gan-Or Z, Bar-Shira A, Mirelman A, Gurevich T, Kedmi M, Giladi N, Orr-Urtreger A. LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease. Neurogenetics 2010;11:121-125.
27. 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.
28. Aharon-Peretz J, Badarny S, Rosenbaum H, Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation. Neurology 2005;65:1460-1461.
29. Mata IF, Samii A, Schneer SH, et al. Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Arch Neurol 2008;65:379-382.
30. 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.
31. Guimaraes Bde C, Pereira AC, Rodrigues Fda C, et al. Glucocerebrosidase N370S and L444P mutations as risk factors for Parkinson's disease in Brazilian patients. Parkinsonism Relat Disord 2012;18:688-689.
32. Kumar KR, Ramirez A, Gobel A, et al. Glucocerebrosidase mutations in a Serbian Parkinson's disease population. Eur J Neurol 2013;20:402-405.
33. 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.
34. 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;72:201-208.
35. Litvan I, Goldman JG, Tröster AI, et al. Diagnostic criteria for mild cognitive impairment in Parkinson's disease: Movement Disorder Society Task Force guidelines. Mov Disord 2012;27:349-356.
36. Sidransky E, Lopez G. The link between the GBA gene and parkinsonism. Lancet Neurol 2012;11:986-998.