{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T09:55:13Z","timestamp":1777888513177,"version":"3.51.4"},"reference-count":36,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2019,9,24]],"date-time":"2019-09-24T00:00:00Z","timestamp":1569283200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Parkinson\u2019s Disease"],"published-print":{"date-parts":[[2019,12,16]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Sporadic Parkinson\u2019s disease (PD) patients have lower \u03b1-galactosidase A ( \u03b1-GAL A) enzymatic activity and Fabry disease (FD) patients potentially carry an increased risk of PD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>Determination of PD prevalence in FD and clinical, biochemical and vascular neuroimaging description of FD pedigrees with concomitant PD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>Clinical screening for PD in 229 FD patients belonging to 31 families, harbouring GLA gene mutation p.F113L, and subsequent pedigree analysis. Gender-stratified comparison of FD+\/PD+ patients with their family members with FD but without PD (FD+\/PD\u2013) regarding Mainz scores, plasma &amp; leukocytes \u03b1-GAL A enzymatic activity, urinary Gb3 and plasma Lyso-Gb3, vascular brain neuroimaging.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>Prevalence of PD in FD was 1.3% (3\/229) (3% in patients aged \u226550 years). Three FD patients, one female (73 years old) (P1) and two males (60 and 65 years old) (P2 and P3), three different pedigrees, presented akinetic-rigid PD, with weak response to levodopa (16% \u2013 36%), and dopaminergic deficiency on 18F-DOPA PET. No pathogenic mutations were found in a PD gene panel. FD+\/PD+ patients had worse clinical severity of FD (above upper 75% IQR in Mainz scores), and cortico-subcortical white matter\/small vessel lesions. P3 patient was under enzyme therapy, started 1 year before PD diagnosis. P2-P3 patients had higher leucocyte \u03b1-GAL A activity (2,2-3 vs.1,0 (median)(nmol\/h\/mg)).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>We have shown a high prevalence of PD in a late-onset phenotype of FD, presenting high cerebrovascular burden and weak response to levodopa. Further studies will untangle how much of this PD phenotype is due to Gb3 deposition versus cerebrovascular lesions in the nigro-striatal network.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jpd-191704","type":"journal-article","created":{"date-parts":[[2019,9,27]],"date-time":"2019-09-27T14:12:18Z","timestamp":1569593538000},"page":"141-152","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":15,"title":["Parkinson\u2019s Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees"],"prefix":"10.1177","volume":"10","author":[{"given":"Miguel Fernandes","family":"Gago","sequence":"first","affiliation":[{"name":"Neurology Department, Reference Center on Lysosomal Storage Disorders, Hospital da Senhora da Oliveira, EPE, Guimar\u00e3es, Portugal"},{"name":"Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS\/3Bs PT Government Associate Laboratory, Braga\/Guimar\u00e3es, Portugal"},{"name":"European Reference Network for Hereditary Metabolic Disorders (MetabERN)"}]},{"given":"Olga","family":"Azevedo","sequence":"additional","affiliation":[{"name":"Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS\/3Bs PT Government Associate Laboratory, Braga\/Guimar\u00e3es, Portugal"},{"name":"Cardiology Department, Reference Center on Lysosomal Storage Disorders, Hospital da Senhora da Oliveira, EPE, Guimar\u00e3es, Portugal"},{"name":"European Reference Network for Hereditary Metabolic Disorders (MetabERN)"}]},{"given":"Andreia","family":"Guimar\u00e3es","sequence":"additional","affiliation":[{"name":"Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS\/3Bs PT Government Associate Laboratory, Braga\/Guimar\u00e3es, Portugal"}]},{"given":"Ana","family":"Teresa Vide","sequence":"additional","affiliation":[{"name":"Neuroradiology Department, Reference Center on Lysosomal Storage Disorders, Hospital da Senhora da Oliveira, EPE, Guimar\u00e3es, Portugal"},{"name":"European Reference Network for Hereditary Metabolic Disorders (MetabERN)"}]},{"given":"Nuno J.","family":"Lamas","sequence":"additional","affiliation":[{"name":"Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS\/3Bs PT Government Associate Laboratory, Braga\/Guimar\u00e3es, Portugal"},{"name":"Anatomic Pathology Service, Pathology Department, Hospital and University Center of Porto, Porto, Portugal"}]},{"given":"Tiago Gil","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS\/3Bs PT Government Associate Laboratory, Braga\/Guimar\u00e3es, Portugal"}]},{"given":"Paulo","family":"Gaspar","sequence":"additional","affiliation":[{"name":"Newborn Screening, Metabolism and Genetic Unit, Genetics Department, National Institute for Health Doutor Ricardo Jorge (INSA)"}]},{"given":"Estela","family":"Bicho","sequence":"additional","affiliation":[{"name":"Centro Algoritmi, Campus Azurem, University of Minho, Guimar\u00e3es, Braga, Portugal"}]},{"given":"Gabriel","family":"Miltenberger-Miltenyi","sequence":"additional","affiliation":[{"name":"Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS\/3Bs PT Government Associate Laboratory, Braga\/Guimar\u00e3es, Portugal"},{"name":"Genetics Department, Reference Center on Lysosomal Storage Disorders, Hospital Senhora da Oliveira, Guimar\u00e3es, Portugal"},{"name":"European Reference Network for Hereditary Metabolic Disorders 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