Fabry Disease With Concomitant Lewy Body Disease.
CD77
Fabry disease
Lewy bodies/neurites
Lysosomal storage diseases
Parkinson disease
α-Galactosidase A
α-Synuclein
Journal
Journal of neuropathology and experimental neurology
ISSN: 1554-6578
Titre abrégé: J Neuropathol Exp Neurol
Pays: England
ID NLM: 2985192R
Informations de publication
Date de publication:
01 04 2020
01 04 2020
Historique:
received:
05
10
2019
revised:
07
11
2019
accepted:
15
12
2019
pubmed:
6
2
2020
medline:
21
11
2020
entrez:
5
2
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32016321
pii: 5722324
doi: 10.1093/jnen/nlz139
pmc: PMC7092358
doi:
Substances chimiques
Trihexosylceramides
0
alpha-Synuclein
0
globotriaosylceramide
71965-57-6
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
378-392Commentaires et corrections
Type : ErratumIn
Type : CommentIn
Informations de copyright
© 2019 American Association of Neuropathologists, Inc.
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