Evolution of prodromal clinical markers of parkinson disease in a GBA mutation-positive cohort

JAMA Neurology

Volumn 72, Issue 2, 2015, Pages 201-208

  Beavan, Michelle ^a   McNeill, Alisdair ^a   Proukakis, Christos ^a   Hughes, Derralynn A ^b   Mehta, Atul ^b   Schapira, Anthony H V ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b ROYAL FREE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE; BIOLOGICAL MARKER;

ADULT; ARTICLE; AUTONOMIC DYSFUNCTION; BECK DEPRESSION INVENTORY; COGNITION; COHORT ANALYSIS; CONTROLLED STUDY; DAILY LIFE ACTIVITY; DEPRESSION; DISEASE COURSE; FEMALE; FOLLOW UP; GAUCHER DISEASE; GBA GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPOSMIA; LONGITUDINAL STUDY; MAJOR CLINICAL STUDY; MALE; MEDICAL ASSESSMENT; MINI MENTAL STATE EXAMINATION; MONTREAL COGNITIVE ASSESSMENT; NEUROLOGIC DISEASE ASSESSMENT; PARASOMNIA; PARKINSON DISEASE; PATHOGENESIS; PRODROMAL SYMPTOM; RAPID EYE MOVEMENT SLEEP BEHAVIOUR DISORDER QUESTIONNAIRE; SLEEP DISORDER ASSESSMENT; UNIFIED MULTIPLE SYSTEM ATROPHY RATING SCALE; UNIFIED PARKINSON DISEASE RATING SCALE; UNITED KINGDOM; UNIVERSITY OF PENNSYLVANIA SMELL IDENTIFICATION TEST; AGED; GENETICS; HETEROZYGOTE; MIDDLE AGED; MUTATION; PATHOPHYSIOLOGY; SEVERITY OF ILLNESS INDEX;

AGED; BIOMARKERS; DISEASE PROGRESSION; FEMALE; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HETEROZYGOTE; HUMANS; LONGITUDINAL STUDIES; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; PRODROMAL SYMPTOMS; SEVERITY OF ILLNESS INDEX;

EID: 84922971361     PISSN: 21686149     EISSN: 21686157     Source Type: Journal    
DOI: 10.1001/jamaneurol.2014.2950     Document Type: Article

References (30)

1. Bultron G, Kacena K, Pearson D, et al. The risk of Parkinson's disease in type 1 Gaucher disease. J Inherit Metab Dis. 2010;33(2):167-173.
2. McNeill A, Duran R, Hughes DA, Mehta A, Schapira AHV. A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers. J Neurol Neurosurg Psychiatry. 2012;83(8):853-854.
3. Sidransky E, Nalls MA, Aasly JO, et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med. 2009;361(17):1651-1661.
4. Zimran A, Gelbart T, Westwood B, Grabowski GA, Beutler E. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. Am J Hum Genet. 1991;49(4):855-859.
5. Anheim M, Elbaz A, Lesage S, et al; French Parkinson Disease Genetic Group. Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers. Neurology. 2012;78(6):417-420.
6. Nalls MA, Duran R, Lopez G, et al. A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol. 2013;70(6):727-735.
7. Wakabayashi K, Mori F, Tanji K, Orimo S, Takahashi H. Involvement of the peripheral nervous system in synucleinopathies, tauopathies and other neurodegenerative proteinopathies of the brain. Acta Neuropathol. 2010;120(1):1-12.
8. Braak H, Del Tredici K, Rüb U, de Vos RAI, Jansen Steur ENH, Braak E. Staging of brain pathology related to sporadic Parkinson's disease. Neurobiol Aging. 2003;24(2):197-211.
9. Chaudhuri KR, Healy DG, Schapira AHV; National Institute for Clinical Excellence. Non-motor symptoms of Parkinson's disease: diagnosis and management. Lancet Neurol. 2006;5(3):235-245.
10. Schapira AHV. Recent developments in biomarkers in Parkinson disease. Curr Opin Neurol. 2013;26(4):395-400.
11. McNeill A, Duran R, Proukakis C, et al. Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord. 2012;27(4):526-532.
12. Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry. 1992;55(3):181-184.
13. Lees AJ, Hardy J, Revesz T. Parkinson's disease. Lancet. 2009;373(9680):2055-2066.
14. 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(10):1364-1372.
15. Hawkes CH, Del Tredici K, Braak H. A timeline for Parkinson's disease. Parkinsonism Relat Disord. 2010;16(2):79-84.
16. Berg D, Lang AE, Postuma RB, et al. Changing the research criteria for the diagnosis of Parkinson's disease: obstacles and opportunities. Lancet Neurol. 2013; 12(5): 514-524.
17. Postuma RB, Aarsland D, Barone P, et al. Identifying prodromal Parkinson's disease: pre-motor disorders in Parkinson's disease. Mov Disord. 2012;27(5):617-626.
18. Stiasny-Kolster K, Mayer G, Schäfer S, Möller JC, Heinzel-Gutenbrunner M, Oertel WH. The REM sleep behavior disorder screening questionnaire-a new diagnostic instrument. Mov Disord. 2007;22(16): 2386-2393.
19. O'Sullivan SS, Williams DR, Gallagher DA, Massey LA, Silveira-Moriyama L, Lees AJ. Nonmotor symptoms as presenting complaints in Parkinson's disease: a clinicopathological study. Mov Disord. 2008;23(1):101-106.
20. Packman W, Wilson Crosbie T, Riesner A, Fairley C, Packman S. Psychological complications of patients with Gaucher disease. J Inherit Metab Dis. 2006;29(1):99-105.
21. Liepelt-Scarfone I, Behnke S, Godau J, et al. Relation of risk factors and putative premotor markers for Parkinson's disease. J Neural Transm. 2011;118(4):579-585.
22. Dalrymple-Alford JC, MacAskill MR, Nakas CT, et al. The MoCA: well-suited screen for cognitive impairment in Parkinson disease. Neurology. 2010; 75(19):1717-1725.
23. Williams SS, Williams J, Combrinck M, Christie S, Smith AD, McShane R. Olfactory impairment is more markedin patients with mild dementia with Lewy bodies than those with mild Alzheimer disease. J Neurol Neurosurg Psychiatry. 2009;80 (6):667-670.
24. 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(18):1434-1440.
25. Brockmann K, Srulijes K, Hauser AK, et al. GBA-associated PD presents with nonmotor characteristics. Neurology. 2011;77(3):276-280.
26. Zokaei N, McNeill A, Proukakis C, et al. Visual short-term memory deficits associated with GBA mutation and Parkinson's disease. Brain. 2014;137(pt 8):2303-2311.
27. Clark LN, Kartsaklis LA, Wolf Gilbert R, et al. Association of glucocerebrosidase mutations with dementia with Lewy bodies. Arch Neurol. 2009;66 (5):578-583.
28. Neumann J, Bras J, Deas E, et al. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain. 2009;132(pt 7):1783-1794.
29. de Lau LML, Koudstaal PJ, Hofman A, Breteler MMB. Subjective complaints precede Parkinson disease: the Rotterdam study. Arch Neurol. 2006; 63(3):362-365.
30. Elstein D, Guedalia J, Doniger GM, et al. Computerized cognitive testing in patients with type I Gaucher disease: effects of enzyme replacement and substrate reduction. Genet Med. 2005;7(2):124-130.