Clinical heterogeneity and novel pathogenic variants of Chinese patients with neuroacanthocytosis

Abstract

<jats:title>Abstract</jats:title> <jats:p><jats:bold>Background:</jats:bold> Neuroacanthocytosis (NA) syndromes are a group of exceedingly rare diseases, including McLeod syndrome (MLS) and chorea-acanthocytosis (ChAc). The characteristic phenotypes comprise a variety of movement disorders, including chorea, dystonia, and parkinsonism. We aimed to investigate the clinical heterogeneity and novel pathogenic variants of Chinese patients with neuroacanthocytosis.<jats:bold>Results</jats:bold>: Three novel <jats:italic>XK</jats:italic> variants (c.942G&gt;A, c.970A&gt;T, c.422_423del) were identified in three index MLS patients and three novel <jats:italic>VPS13A</jats:italic> variants (c.3817C&gt;T, c.9219C&gt;A, c.3467T&gt;A) in two index ChAc patients. In addition, we summarized the genotypes and phenotypes of reported MLA patients and ChAc patients in the Chinese population.<jats:bold>Conclusion</jats:bold>: Our study expands the genetic spectrum of <jats:italic>XK</jats:italic> and <jats:italic>VPS13A</jats:italic> and helps the clinical diagnosis of neuroacanthocytosis.</jats:p>