Parkinson's Disease Prevalence in Fabry Disease: A Survey Study

Overview

Journal Mol Genet Metab Rep

Specialty Endocrinology

Date 2017 Nov 22

PMID 29159076

Citations 25

Authors

Adina H Wise

Amy Yang

Hetanshi Naik

Chanan Stauffer

Natasha Zeid

Christopher Liong

Manisha Balwani

Robert J Desnick

Roy N Alcalay

Affiliations

Soon will be listed here.

Abstract

Recent research has suggested a possible link between Parkinson's disease (PD) and Fabry disease. To test this relationship, we administered a self-report and family history questionnaire to determine the prevalence of PD in Fabry disease patients and family members with likely pathogenic alpha-galactosidase A (GLA) mutations. A total of 90 Fabry patients (77 from the online survey and 13 from the Icahn School of Medicine at Mount Sinai (ISMMS)) were included in the analysis. Two of the Fabry disease patients who completed the online survey were diagnosed with PD (2/90, 2.2%). Among probands older than 60, 8.3% (2/24) were diagnosed with PD. Using Kaplan Meier survival analysis, the age-specific risk of PD by age 70 was 11.1%. Family history was available on 72 Fabry families from the online study and 9 Fabry families from ISMMS. Among these 81 families, 6 (7.4%) had one first degree relative who fit the criteria for a conservative diagnosis of PD. The results of this study suggest that there may be an increased risk of developing PD in individuals with GLA mutations, but these findings should be interpreted with caution given the limitations of the study design.

Citing Articles

Expanding the Neurological Phenotype of Anderson-Fabry Disease: Proof of Concept for an Extrapyramidal Neurodegenerative Pattern and Comparison with Monogenic Vascular Parkinsonism.

Zedde M, Romani I, Scaravilli A, Cocozza S, Trojano L, Ragno M Cells. 2024; 13(13.

PMID: 38994983 PMC: 11240674. DOI: 10.3390/cells13131131.

Enzymatic properties and clinical associations of serum alpha-galactosidase A in Parkinson's disease.

Mizutani Y, Nawashiro K, Ohdake R, Tatebe H, Shima S, Ueda A Ann Clin Transl Neurol. 2023; 10(9):1662-1672.

PMID: 37496179 PMC: 10502655. DOI: 10.1002/acn3.51856.

Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy.

Braun F, Abed A, Sellung D, Rogg M, Woidy M, Eikrem O J Clin Invest. 2023; 133(11).

PMID: 37014703 PMC: 10232004. DOI: 10.1172/JCI157782.

Mechanisms of Glucocerebrosidase Dysfunction in Parkinson's Disease.

Chatterjee D, Krainc D J Mol Biol. 2023; 435(12):168023.

PMID: 36828270 PMC: 10247409. DOI: 10.1016/j.jmb.2023.168023.

Anderson-Fabry Disease: A New Piece of the Lysosomal Puzzle in Parkinson Disease?.

Zedde M, Pascarella R, Cavallieri F, Pezzella F, Grisanti S, Di Fonzo A Biomedicines. 2022; 10(12).

PMID: 36551888 PMC: 9776280. DOI: 10.3390/biomedicines10123132.

References

Gibas A, Klatt R, Johnson J, Clarke J, Katz J . A survey of the pain experienced by males and females with Fabry disease. Pain Res Manag. 2006; 11(3):185-92. PMC: 2539000. DOI: 10.1155/2006/828964. View

Dagan E, Schlesinger I, Ayoub M, Mory A, Nassar M, Kurolap A . The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews. Parkinsonism Relat Disord. 2015; 21(9):1067-71. DOI: 10.1016/j.parkreldis.2015.06.016. View

Hirsch L, Jette N, Frolkis A, Steeves T, Pringsheim T . The Incidence of Parkinson's Disease: A Systematic Review and Meta-Analysis. Neuroepidemiology. 2016; 46(4):292-300. DOI: 10.1159/000445751. View

McNeill A, Duran R, Proukakis C, Bras J, Hughes D, Mehta A . Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord. 2012; 27(4):526-32. PMC: 4188387. DOI: 10.1002/mds.24945. View

Schwarz J, Cooper D, Schuelke M, Seelow D . MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014; 11(4):361-2. DOI: 10.1038/nmeth.2890. View

Macdermot K, Holmes A, Miners A . Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet. 2001; 38(11):769-75. PMC: 1734754. DOI: 10.1136/jmg.38.11.769. View

Eng C, Guffon N, Wilcox W, Germain D, Lee P, Waldek S . Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease. N Engl J Med. 2001; 345(1):9-16. DOI: 10.1056/NEJM200107053450102. View

Foo J, Liany H, Bei J, Yu X, Liu J, Au W . Rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease. Neurobiol Aging. 2013; 34(12):2890.e13-5. DOI: 10.1016/j.neurobiolaging.2013.06.010. View

Lee A, Wang Y, Alcalay R, Mejia-Santana H, Saunders-Pullman R, Bressman S . Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry. Mov Disord. 2017; 32(10):1432-1438. PMC: 5656509. DOI: 10.1002/mds.27059. View

10.

Alcalay R, Dinur T, Quinn T, Sakanaka K, Levy O, Waters C . Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes. JAMA Neurol. 2014; 71(6):752-7. PMC: 4082726. DOI: 10.1001/jamaneurol.2014.313. View

11.

Nelson M, Tse T, OQuinn D, Percival S, Jaimes E, Warnock D . Autophagy-lysosome pathway associated neuropathology and axonal degeneration in the brains of alpha-galactosidase A-deficient mice. Acta Neuropathol Commun. 2014; 2:20. PMC: 3933238. DOI: 10.1186/2051-5960-2-20. View

12.

Wu G, Yan B, Wang X, Feng X, Zhang A, Xu X . Decreased activities of lysosomal acid alpha-D-galactosidase A in the leukocytes of sporadic Parkinson's disease. J Neurol Sci. 2008; 271(1-2):168-73. DOI: 10.1016/j.jns.2008.04.011. View

13.

Schiffmann R, Warnock D, Banikazemi M, Bultas J, Linthorst G, Packman S . Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant. 2009; 24(7):2102-11. PMC: 2698092. DOI: 10.1093/ndt/gfp031. View

14.

Orimo S, Iwasaki T, Yoshino H, Arai M, Hiyamuta E . [An autopsied case of Fabry's disease presenting with parkinsonism and cardiomegaly as a cardinal clinical manifestation]. Rinsho Shinkeigaku. 1994; 34(10):1003-7. View

15.

Buechner S, De Cristofaro M, Ramat S, Borsini W . Parkinsonism and Anderson Fabry's disease: a case report. Mov Disord. 2005; 21(1):103-7. DOI: 10.1002/mds.20675. View

16.

Sidransky E, Lopez G . The link between the GBA gene and parkinsonism. Lancet Neurol. 2012; 11(11):986-98. PMC: 4141416. DOI: 10.1016/S1474-4422(12)70190-4. View

17.

Lohle M, Hughes D, Milligan A, Richfield L, Reichmann H, Mehta A . Clinical prodromes of neurodegeneration in Anderson-Fabry disease. Neurology. 2015; 84(14):1454-64. PMC: 4390387. DOI: 10.1212/WNL.0000000000001450. View

18.

de Lau L, Giesbergen P, de Rijk M, Hofman A, Koudstaal P, Breteler M . Incidence of parkinsonism and Parkinson disease in a general population: the Rotterdam Study. Neurology. 2004; 63(7):1240-4. DOI: 10.1212/01.wnl.0000140706.52798.be. View

19.

Rana H, Balwani M, Bier L, Alcalay R . Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling. Genet Med. 2012; 15(2):146-9. PMC: 3519952. DOI: 10.1038/gim.2012.107. View

20.

Eng C, Niehaus D, Enriquez A, Burgert T, Ludman M, Desnick R . Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene. Hum Mol Genet. 1994; 3(10):1795-9. DOI: 10.1093/hmg/3.10.1795. View