"Neuroacanthocytosis" - Overdue for a Taxonomic Update.
McLeod syndrome
VPS13A
acanthocytosis
chorea-acanthocytosis
neuroacanthocytosis
Journal
Tremor and other hyperkinetic movements (New York, N.Y.)
ISSN: 2160-8288
Titre abrégé: Tremor Other Hyperkinet Mov (N Y)
Pays: England
ID NLM: 101569493
Informations de publication
Date de publication:
11 01 2021
11 01 2021
Historique:
entrez:
29
1
2021
pubmed:
30
1
2021
medline:
15
12
2021
Statut:
epublish
Résumé
The term "neuroacanthocytosis" (NA) is used for a spectrum of neurological disorders in which there are thorny red blood cells. While NA historically referred to disorders of lipoprotein absorption, we have promoted it as an overarching term for a group of basal ganglia disorders, with specific reference to two diseases that we defined as "core" NA syndromes. "Neuroacanthocytosis" has also been used to refer to a specific, now genetically-defined disease, otherwise known as "chorea-acanthocytosis". These various usages have resulted in diagnostic confusion, and in a number of cases have quite likely prevented the pursuance of precise, molecular, diagnosis. Disease nomenclature is an ever-evolving field, especially in the current era of expanding genetics, and naming proposals are often far from ideal. We, however, suggest that the term "neuroacanthocytosis" should no longer be generally used and if so, only with appropriate understanding of its limitations. Further, we propose that chorea-acanthocytosis be renamed as "
Identifiants
pubmed: 33510935
doi: 10.5334/tohm.583
pmc: PMC7805383
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1Informations de copyright
Copyright: © 2021 The Author(s).
Déclaration de conflit d'intérêts
The authors have no competing interests to declare.
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