KIF1A and hereditary spastic paraplegia: However, two families had cognitive impairment, reflected by learning difficulties and borderline intellectual disability in one patient, whereas one additional proband had a complex phenotype and a de novo contiguous gene deletion including KIF1A. Seventeen variants in 20 families are likely to cause dominant SPG, because they are missense variants in the kinesin domain (11 variants, of which 5 had occurred de novo) or are very likely loss-of-function variants outside the motor domain (six variants, of which two were de novo).