Parkinson's disease prevalence in Fabry disease: A survey study
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...
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doaj-3a23630a49544daa97a18b3aea1b92b52020-11-24T23:19:48ZengElsevierMolecular Genetics and Metabolism Reports2214-42692018-03-0114C273010.1016/j.ymgmr.2017.10.013Parkinson's disease prevalence in Fabry disease: A survey studyAdina H. Wise0Amy Yang1Hetanshi Naik2Chanan Stauffer3Natasha Zeid4Christopher Liong5Manisha Balwani6Robert J. Desnick7Roy N. Alcalay8Department of Neurology, Columbia University Medical Center, 710 W. 168th St., New York, NY 10032, United StatesDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai Hospital, 1428 Madison Ave, Atran Building, 1st Floor, New York, NY 10029, United StatesDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai Hospital, 1428 Madison Ave, Atran Building, 1st Floor, New York, NY 10029, United StatesDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai Hospital, 1428 Madison Ave, Atran Building, 1st Floor, New York, NY 10029, United StatesDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai Hospital, 1428 Madison Ave, Atran Building, 1st Floor, New York, NY 10029, United StatesDepartment of Neurology, Columbia University Medical Center, 710 W. 168th St., New York, NY 10032, United StatesDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai Hospital, 1428 Madison Ave, Atran Building, 1st Floor, New York, NY 10029, United StatesDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai Hospital, 1428 Madison Ave, Atran Building, 1st Floor, New York, NY 10029, United StatesDepartment of Neurology, Columbia University Medical Center, 710 W. 168th St., New York, NY 10032, United StatesRecent 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.http://www.sciencedirect.com/science/article/pii/S2214426917301544Parkinson's diseaseFabry diseaseLysosomal storage disorderAlpha-galactosidase AGLA |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Adina H. Wise Amy Yang Hetanshi Naik Chanan Stauffer Natasha Zeid Christopher Liong Manisha Balwani Robert J. Desnick Roy N. Alcalay |
spellingShingle |
Adina H. Wise Amy Yang Hetanshi Naik Chanan Stauffer Natasha Zeid Christopher Liong Manisha Balwani Robert J. Desnick Roy N. Alcalay Parkinson's disease prevalence in Fabry disease: A survey study Molecular Genetics and Metabolism Reports Parkinson's disease Fabry disease Lysosomal storage disorder Alpha-galactosidase A GLA |
author_facet |
Adina H. Wise Amy Yang Hetanshi Naik Chanan Stauffer Natasha Zeid Christopher Liong Manisha Balwani Robert J. Desnick Roy N. Alcalay |
author_sort |
Adina H. Wise |
title |
Parkinson's disease prevalence in Fabry disease: A survey study |
title_short |
Parkinson's disease prevalence in Fabry disease: A survey study |
title_full |
Parkinson's disease prevalence in Fabry disease: A survey study |
title_fullStr |
Parkinson's disease prevalence in Fabry disease: A survey study |
title_full_unstemmed |
Parkinson's disease prevalence in Fabry disease: A survey study |
title_sort |
parkinson's disease prevalence in fabry disease: a survey study |
publisher |
Elsevier |
series |
Molecular Genetics and Metabolism Reports |
issn |
2214-4269 |
publishDate |
2018-03-01 |
description |
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. |
topic |
Parkinson's disease Fabry disease Lysosomal storage disorder Alpha-galactosidase A GLA |
url |
http://www.sciencedirect.com/science/article/pii/S2214426917301544 |
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