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.
Highlights
Use of the term “neuroacanthocytosis” (NA) has been fraught with taxonomic confusion over the years
Yamamoto and collaborators introduced the term “neuroacanthocytosis” in 1982 for “a combination of neurologic disorder and acanthocytosis” or “neurologic disease and acanthocytes occurring together” under which they included cases with lipid abnormalities. Their presentation of two siblings [4], was focused on “familial neuroacanthocytosis with normal serum lipoprotein levels”, small case series of which were being reported from Japan [5]
In 1985 Jankovic in particular advocated for the use of “neuroacanthocytosis” rather than of “choreoacanthocytosis” or “Levine-Critchley syndrome” to describe such cases [6], that in hindsight are characterized by the features of disease due to VPS13A mutations
Summary
Use of the term “neuroacanthocytosis” (NA) has been fraught with taxonomic confusion over the years. NA refers to: 1) disorders of lipid absorption (such as Bassen-Kornzweig disease), in which there are peripheral neuropathy and cerebellar signs and 2) basal ganglia degenerative disorders, characterized by movement disorders. The former group of disorders is generally, and more properly, defined by their metabolic or genetic abnormalities (such as abetalipoproteinemia or MTTP mutations, respectively). At a more specific level, NA, as we defined it almost 20 years ago [2], is an umbrella term referring to the second group of disorders. We argue that the term ought to be replaced or at least used only with the greatest care, in order not to impede identification of a more precise diagnosis for the individual patient in the current age of “precision medicine”
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