Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.
Francesco NicitaMonia GinevrinoLorena TravagliniStefano D'ArrigoGiovanna ZorziRenato BorgattiGaetano TerroneMichela CatterucciaGessica VascoVesna BrankovicSabrina SiliquiniSilvia RomanoChiara VerediceMarina PedemonteMichelina ArmandoDonatella LettoriFabrizia StregapedeLuca BoscoAntonella SferraValeria TessarolloLudovica PascaGiovanni RistoriEnrico BertiniEnza Maria ValenteGinevra ZanniPublished in: Journal of medical genetics (2020)
The present study further enlarges the clinical and mutational spectrum of KIF1A-related disorders by describing a large series of patients with dominantly inherited KIF1A 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 KIF1A 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.