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Journal of Neurology
Published in: Journal of Neurology 8/2018

Open Access 01-08-2018 | Original Communication

The motor and cognitive features of Parkinson’s disease in patients with concurrent Gaucher disease over 2 years: a case series

Authors: Lucy M. Collins, Caroline H. Williams-Gray, Elizabeth Morris, Patrick Deegan, Timothy M. Cox, Roger A. Barker

Published in: Journal of Neurology | Issue 8/2018

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Abstract

We report the cognitive features and progression of Parkinson’s disease (PD) in five patients with concurrent Gaucher disease. The patients presented at an earlier age than patients with sporadic PD, as previously noted by others; but in contrast to many previous reports, our patients followed a variable clinical course. While two patients developed early cognitive deficits and dementia, three others remained cognitively intact over the follow-up period. Thus, in this small case series, PD in the context of GD more closely resembles idiopathic PD in terms of its clinical heterogeneity in contrast to PD associated with GBA heterozygote mutations.
Literature
1.
Machaczka M, Rucinska M, Skotnicki A, Jurczak W (1999) Parkinson’s syndrome preceding clinical manifestation of Gaucher’s disease. Am J Hematol 61(3):216–217CrossRefPubMed
2.
Chetrit EB, Alcalay RN, Steiner-Birmanns B, Altarescu G, Phillips M, Elstein D et al (2013) Phenotype in patients with Gaucher disease and Parkinson disease. Blood Cells Mol Dis 50:218–221CrossRefPubMed
3.
Rana HQ, Balwani M, Bier L, Alcalay RN (2012) Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling. Genet Med 15:146–149CrossRefPubMedPubMedCentral
4.
Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R (2004) Mutations in the glucocerebrosidase gene and Parkinson’s disease in Ashkenazi Jews. N Engl J Med 351:1972–1977CrossRefPubMed
5.
Eblan MJ, Nguyen J, Ziegler SG, Lwin A, Hanson M, Gallardo M et al (2006) Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela. Mov Disord 21:282–283CrossRefPubMed
6.
Lwin A, Orvisky E, Goker-Alpan O, LaMarca ME, Sidransky E (2004) Glucocerebrosidase mutations in subjects with parkinsonism. Molecular Genet Metabol 81(1):70–73CrossRef
7.
Mitsui J, Mizuta I, Toyoda A, Ashida R, Takahashi Y, Goto J et al (2009) Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol 66:571–576CrossRefPubMed
8.
Neumann J, Bras J, Deas E, O’Sullivan SS, Parkkinen L, Lachmann RH et al (2009) Glucocerebrosidase mutations in clinical and pathologically proven Parkinson’s disease. Brain 132:1783–1794CrossRefPubMedPubMedCentral
9.
Nichols WC, Pankratz N, Marek DK, Pauciulo MW, Elsaesser V, Halter C, Rudolph A, Wojcieszek J, Pfeiffer R, Foroud T, Investigators. PSG-P. (2009) Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology 72(4):310–316CrossRefPubMedPubMedCentral
10.
Rosenbloom B, Balwani M, Bronstein JM (2011) The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry. Blood Cells Molecules Disease 46(1):95–102CrossRef
11.
Capablo JL, Saenz de Cabezón A, Fraile J, Alfonso P, Pocovi M, Giraldo P et al (2008) Neurological evaluation of patients with Gaucher disease diagnosed as type 1. J Neurol Neurosurg Psychiatr 79:219–222CrossRef
12.
Neudorfer O, Giladi N, Elstein D, Abrahamov A, Turezkite T, Aghai E et al (1996) Occurrence of Parkinson’s syndrome in type 1 Gaucher disease. QJM 89:691–694CrossRefPubMed
13.
Tayebi N (2003) Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab 79:104–109CrossRefPubMed
14.
Bembi B, Marsala SZ, Sidransky E, Ciana G (2003) Gaucher’s disease with Parkinson’s disease Clinical and pathological aspects. Neurology 61(1):99–101CrossRefPubMed
15.
16.
17.
Mata IF, Samii A, Schneer SH, Roberts JW, Griffith A, Leis B, Schellenberg G, Sidransky E, Bird T, Leverenz J, Tsuang D, and CP., Z (2008) Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Archives of neurology 65(3):379–382CrossRefPubMedPubMedCentral
18.
Mioshi E, Dawson K, Mitchell J, Arnold R, Hodges JR (2006) The Addenbrooke’s Cognitive Examination Revised (ACE-R): a brief cognitive test battery for dementia screening. Int J Geriatr Psychiatry 21:1078–1085CrossRefPubMed
19.
Folstein MF, Folstein SE, McHugh PR (1975) “Mini-mental state.” A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 12:189–198CrossRefPubMed
20.
Dubois B, Slachevsky A, Litvan I, Pillon B (2000) The FAB A frontal assessment battery at bedside. Neurology 55:1621–1626CrossRefPubMed
21.
22.
Marin RS, Biedrzycki RC, Firinciogullari S (1991) Reliability and validity of the apathy evaluation scale. Psychiatry Res 38(2):143–162CrossRefPubMed
23.
Goker-Alpan O, Wiggs EA, Eblan MJ, Benko W, Ziegler SG, Sidransky E et al (2008) Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease. J Pediatr 153:89–94.e4CrossRefPubMed
24.
Foltynie T, Brayne C, Robbins TW, Barker RA (2004) The cognitive ability of an incident cohort of Parkinson’s patients in the UK. The CamPaIGN study. Brain 127(3):550–560CrossRefPubMed
25.
Ala TA, Hughes LF, Kyrouac GA (2001) Pentagon copying is more impaired in dementia with Lewy bodies than in Alzheimer’s disease. J Neurol 70(4):483–488
26.
Alcalay RN, Dinur T, Quinn T, Sakanaka K, Levy O, Waters C et al (2014) Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes. JAMA Neurol 71:752–757CrossRefPubMedPubMedCentral
27.
Beavan MS, Schapira A (2013) Glucocerebrosidase mutations and the pathogenesis of Parkinson disease. Ann Med 45(8):511–521CrossRefPubMed
28.
Lopez G, Kim J, Wiggs E, Cintron D, Groden C, Tayebi N et al (2016) Clinical course and prognosis in patients with Gaucher disease and parkinsonism. Neurol Genet 2:e57CrossRefPubMedPubMedCentral
29.
Winder-Rhodes SE, Evans JR, Ban M, Mason SL, Williams-Gray CH, Foltynie T et al (2013) Glucocerebrosidase mutations influence the natural history of Parkinson’s disease in a community-based incident cohort. Brain 136:392–399CrossRefPubMed
30.
Brockmann K, Srulijes K, Pflederer S, Hauser A-K, Schulte C, Maetzler W et al (2014) GBA-associated Parkinson’s disease: Reduced survival and more rapid progression in a prospective longitudinal study. Mov Disord 30:407–411CrossRefPubMed
31.
Mata IF, Leverenz JB, Weintraub D, Trojanowski JQ, Chen-Plotkin A, Van Deerlin VM, Ritz B, Rausch R, Factor SA, Wood-Siverio C, Quinn JF, Chung KA, Peterson-Hiller AL, Goldman JG, Stebbins GT, Bernard B, Espay AJ, Revilla FJ, Devoto J, Rosenthal LS, Dawson TM, Albert MS, Tsuang D, Huston H, Yearout D, Hu S-C, Cholerton BA, Montine TJ, Edwards KL, Zabetian CP (2015) GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson’s disease. Mov Disord 31(1):95–102CrossRefPubMedPubMedCentral
32.
Aronovich EL, Hackett PB (2015) Lysosomal storage disease: gene therapy on both sides of the blood-brain barrier. Mol Genet Metab 114:83–93CrossRefPubMed
33.
Williams-Gray CH, Wijeyekoon R, Yarnall AJ, Lawson RA, Breen DP, Evans JR et al (2016) Serum immune markers and disease progression in an incident Parkinson’s disease cohort (ICICLE-PD). Mov Disord 31:995–1003CrossRefPubMedPubMedCentral
34.
Kortekaas R, Leenders KL, van Oostrom JCH, Vaalburg W, Bart J, Willemsen ATM et al (2005) Blood-brain barrier dysfunction in parkinsonian midbrain in vivo. Ann Neurol 57:176–179CrossRefPubMed
Metadata
Title
The motor and cognitive features of Parkinson’s disease in patients with concurrent Gaucher disease over 2 years: a case series
Authors
Lucy M. Collins
Caroline H. Williams-Gray
Elizabeth Morris
Patrick Deegan
Timothy M. Cox
Roger A. Barker
Publication date
01-08-2018
Publisher
Springer Berlin Heidelberg
Published in
Journal of Neurology / Issue 8/2018
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-018-8908-6

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