{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T14:45:55Z","timestamp":1782225955089,"version":"3.54.5"},"reference-count":138,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2020,2,4]],"date-time":"2020-02-04T00:00:00Z","timestamp":1580774400000},"content-version":"vor","delay-in-days":48,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Although Gaucher disease can be accompanied by Lewy pathology (LP) and extrapyramidal symptoms, it is unknown if LP exists in Fabry disease (FD), another progressive multisystem lysosomal storage disorder. We aimed to elucidate the distribution patterns of FD-related inclusions and LP in the brain of a 58-year-old cognitively unimpaired male FD patient suffering from predominant hypokinesia. Immunohistochemistry (CD77, \u03b1-synuclein, collagen IV) and neuropathological staging were performed on 100-\u00b5m sections. Tissue from the enteric or peripheral nervous system was unavailable. As controls, a second cognitively unimpaired 50-year-old male FD patient without LP or motor symptoms and 3 age-matched individuals were examined. Inclusion body pathology was semiquantitatively evaluated. Although Lewy neurites\/bodies were not present in the 50-year-old individual or in controls, severe neuronal loss in the substantia nigra pars compacta and LP corresponding to neuropathological stage 4 of Parkinson disease was seen in the 58-year-old FD patient. Major cerebrovascular lesions and\/or additional pathologies were absent in this individual.\u00a0We conclude that Lewy body disease with parkinsonism can occur within the context of FD. Further studies determining the frequencies of both inclusion pathologies in large autopsy-controlled FD cohorts could help clarify the implications of both lesions for disease pathogenesis, potential spreading mechanisms, and therapeutic interventions.<\/jats:p>","DOI":"10.1093\/jnen\/nlz139","type":"journal-article","created":{"date-parts":[[2020,2,6]],"date-time":"2020-02-06T17:23:36Z","timestamp":1581009816000},"page":"378-392","source":"Crossref","is-referenced-by-count":25,"title":["Fabry Disease With Concomitant Lewy Body Disease"],"prefix":"10.1093","volume":"79","author":[{"given":"Kelly","family":"Del Tredici","sequence":"first","affiliation":[{"name":"Clinical Neuroanatomy Section, Department of Neurology, Center for Biomedical Research, University of Ulm"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert C","family":"Ludolph","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Ulm and DZNE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Feldengut","sequence":"additional","affiliation":[{"name":"Clinical Neuroanatomy Section, Department of Neurology, Center for Biomedical Research, University of Ulm"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Jacob","sequence":"additional","affiliation":[{"name":"Clinical Neuroanatomy Section, Department of Neurology, Center for Biomedical Research, University of Ulm"},{"name":"Institute for Anatomy and Cell Biology, University of Ulm , Ulm"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heinz","family":"Reichmann","sequence":"additional","affiliation":[{"name":"Department of Neurology, Dresden University of Technology , Dresden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen R","family":"Bohl","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology, University of Mainz , Mainz, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heiko","family":"Braak","sequence":"additional","affiliation":[{"name":"Clinical Neuroanatomy Section, Department of Neurology, Center for Biomedical Research, University of Ulm"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,12,18]]},"reference":[{"key":"2024032523311132700_nlz139-B1","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1002\/humu.20676","article-title":"Gaucher disease: Mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)","volume":"29","author":"Hruska","year":"2008","journal-title":"Hum Mutat"},{"key":"2024032523311132700_nlz139-B2","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1093\/qjmed\/89.9.691","article-title":"Occurrence of Parkinson\u2019s syndrome in type I Gaucher 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