Heterozygous <i>KIF1A</i> variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders

Abstract

The present study further enlarges the clinical and mutational spectrum of <i>KIF1A</i>-related disorders by describing a large series of patients with dominantly inherited <i>KIF1A</i> pathogenic variants ranging from pure to complex forms of hereditary spastic paraparesis/paraplegias (HSP) and ataxic phenotypes in a lower proportion of cases. A comprehensive review of the literature indicates that <i>KIF1A</i> screening should be implemented in HSP regardless of its mode of inheritance or presentations as well as in other complex neurodegenerative or neurodevelopmental disorders showing congenital or early onset ataxia.