Clinical heterogeneity and novel pathogenic variants of Chinese patients with neuroacanthocytosis

Abstract Background: 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.Results: Three novel XK variants (c.942G>A, c.970A>T, c.422_423del) were identified in three index MLS patients and three novel VPS13A variants (c.3817C>T, c.9219C>A, c.3467T>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.Conclusion: Our study expands the genetic spectrum of XK and VPS13A and helps the clinical diagnosis of neuroacanthocytosis.