An autopsy case of pure nigropathy with TUBA4A nonsense mutation.
Journal
Neuropathology and applied neurobiology
ISSN: 1365-2990
Titre abrégé: Neuropathol Appl Neurobiol
Pays: England
ID NLM: 7609829
Informations de publication
Date de publication:
10 2021
10 2021
Historique:
revised:
16
02
2021
received:
24
09
2020
accepted:
13
03
2021
pubmed:
25
3
2021
medline:
29
1
2022
entrez:
24
3
2021
Statut:
ppublish
Résumé
We showed the results of pathological and genetic investigation for an autopsy case who was evaluated as longstanding Parkinson's disease (PD) in alive. Neuropathological investigation showed "pure nigropathy" without Lewy and tau pathology, and genetic analyses using next-generation sequencing detected novel TUBA4A nonsence mutation. Subsequent physiological study added to strength the hypothesis that the variant is pathogenic one. Present case showed TUBA4A is not only responsible gene for amyotrophic lateral sclerosis/frontotemporal dementia but also PD associated pure nigropathy. Also we found minimal but significant tau pathology high possibly associated with long-term deep brain stimulation in subthalamic nucleus.
Substances chimiques
Codon, Nonsense
0
TUBA8 protein, human
0
Tubulin
0
Types de publication
Letter
Langues
eng
Sous-ensembles de citation
IM
Pagination
891-893Informations de copyright
© 2021 British Neuropathological Society.
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