Neuroacanthocytosis - Overdue for a Taxonomic Update

Walker, Ruth H. und Danek, Adrian (2021): Neuroacanthocytosis - Overdue for a Taxonomic Update. In: Tremor and Other Hyperkinetic Movements, Bd. 11, 1

Abstract

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 VPS13A disease in accordance with its genetic etiology.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 2160-8288
• Sprache: Englisch