Journal Article

DZNE-2020-01077

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Fabry Disease With Concomitant Lewy Body Disease

Del Tredici, K. (Corresponding author) ; Ludolph, A. C.DZNE* ; Feldengut, S. ; Jacob, C. ; Reichmann, H. ; Bohl, J. R. ; Braak, H.

2020
Lippincott Williams & Wilkins Philadelphia, Pa. [u.a.]

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Please use a persistent id in citations: doi:10.1093/jnen/nlz139

Abstract: 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, α-synuclein, collagen IV) and neuropathological staging were performed on 100-µm 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. We 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.

Keyword(s): Astrocytes: pathology (MeSH) ; Brain: blood supply (MeSH) ; Brain: metabolism (MeSH) ; Brain: pathology (MeSH) ; Fabry Disease: complications (MeSH) ; Fabry Disease: metabolism (MeSH) ; Fabry Disease: pathology (MeSH) ; Humans (MeSH) ; Lewy Bodies: metabolism (MeSH) ; Lewy Bodies: pathology (MeSH) ; Lewy Body Disease: complications (MeSH) ; Lewy Body Disease: metabolism (MeSH) ; Lewy Body Disease: pathology (MeSH) ; Male (MeSH) ; Middle Aged (MeSH) ; Neurons: metabolism (MeSH) ; Neurons: pathology (MeSH) ; Trihexosylceramides: metabolism (MeSH) ; alpha-Synuclein: metabolism (MeSH)

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Contributing Institute(s):

1. Clinical Study Center Ulm (Clinical Study Center Ulm)

Research Program(s):

1. 344 - Clinical and Health Care Research (POF3-344) (POF3-344)

Appears in the scientific report 2020

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Database coverage:
; Allianz-Lizenz / DFG ; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; Essential Science Indicators ; IF < 5 ; JCR ; SCOPUS ; Web of Science Core Collection

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