Parkinson's disease prevalence in Fabry disease

A survey study

Adina H. Wise, Amy Yang, Hetanshi Naik, Chanan Stauffer, Natasha Zeid, Christopher Liong, Manisha Balwani, Robert J. Desnick, Roy N. Alcalay

Research output: Contribution to journalArticle

7 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)27-30
Number of pages4
JournalMolecular Genetics and Metabolism Reports
Volume14
DOIs
StatePublished - Mar 1 2018
Externally publishedYes

Fingerprint

Fabry Disease
Parkinson Disease
Medicine
Galactosidases
alpha-Galactosidase
Mutation
Kaplan-Meier Estimate
Parkinsonian Disorders
Survival Analysis
Self Report
Surveys and Questionnaires
Research

Keywords

  • Alpha-galactosidase A
  • Fabry disease
  • GLA
  • Lysosomal storage disorder
  • Parkinson's disease

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Endocrinology

Cite this

Parkinson's disease prevalence in Fabry disease : A survey study. / Wise, Adina H.; Yang, Amy; Naik, Hetanshi; Stauffer, Chanan; Zeid, Natasha; Liong, Christopher; Balwani, Manisha; Desnick, Robert J.; Alcalay, Roy N.

In: Molecular Genetics and Metabolism Reports, Vol. 14, 01.03.2018, p. 27-30.

Research output: Contribution to journalArticle

Wise, AH, Yang, A, Naik, H, Stauffer, C, Zeid, N, Liong, C, Balwani, M, Desnick, RJ & Alcalay, RN 2018, 'Parkinson's disease prevalence in Fabry disease: A survey study', Molecular Genetics and Metabolism Reports, vol. 14, pp. 27-30. https://doi.org/10.1016/j.ymgmr.2017.10.013
Wise, Adina H. ; Yang, Amy ; Naik, Hetanshi ; Stauffer, Chanan ; Zeid, Natasha ; Liong, Christopher ; Balwani, Manisha ; Desnick, Robert J. ; Alcalay, Roy N. / Parkinson's disease prevalence in Fabry disease : A survey study. In: Molecular Genetics and Metabolism Reports. 2018 ; Vol. 14. pp. 27-30.
@article{977a90e3e269477d908884a3595586e9,
title = "Parkinson's disease prevalence in Fabry disease: A survey study",
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.",
keywords = "Alpha-galactosidase A, Fabry disease, GLA, Lysosomal storage disorder, Parkinson's disease",
author = "Wise, {Adina H.} and Amy Yang and Hetanshi Naik and Chanan Stauffer and Natasha Zeid and Christopher Liong and Manisha Balwani and Desnick, {Robert J.} and Alcalay, {Roy N.}",
year = "2018",
month = "3",
day = "1",
doi = "10.1016/j.ymgmr.2017.10.013",
language = "English (US)",
volume = "14",
pages = "27--30",
journal = "Molecular Genetics and Metabolism Reports",
issn = "2214-4269",
publisher = "Elsevier BV",

}

TY - JOUR

T1 - Parkinson's disease prevalence in Fabry disease

T2 - A survey study

AU - Wise, Adina H.

AU - Yang, Amy

AU - Naik, Hetanshi

AU - Stauffer, Chanan

AU - Zeid, Natasha

AU - Liong, Christopher

AU - Balwani, Manisha

AU - Desnick, Robert J.

AU - Alcalay, Roy N.

PY - 2018/3/1

Y1 - 2018/3/1

N2 - 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.

AB - 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.

KW - Alpha-galactosidase A

KW - Fabry disease

KW - GLA

KW - Lysosomal storage disorder

KW - Parkinson's disease

UR - http://www.scopus.com/inward/record.url?scp=85033367055&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85033367055&partnerID=8YFLogxK

U2 - 10.1016/j.ymgmr.2017.10.013

DO - 10.1016/j.ymgmr.2017.10.013

M3 - Article

VL - 14

SP - 27

EP - 30

JO - Molecular Genetics and Metabolism Reports

JF - Molecular Genetics and Metabolism Reports

SN - 2214-4269

ER -