Fig. 1: KAND is a multi-system disorder.

This figure illustrates the multi-systemic nature of KIF1A-Associated Neurological Disorder (KAND). The schematic represents an overall summary of caregiver-reported data from 177 KAND cases [8], highlighting the diverse clinical manifestations of the disorder. Due to the heterogeneity of KAND, not all symptoms are present in every individual. In addition, these data are derived from a cohort of patients with missense variants in the motor domain. Other clinical and genetic entities, such as HSAN II and ALS, are described in the text but not represented in this figure. Illustration created using R Studio and in BioRender. Christodoulou (2025) https://BioRender.com/j55y416. GE gastroesophageal, IBS irritable bowel syndrome, UTI urinary tract infection, GHD growth hormone deficiency, TFT thyroid function test, ADHD attention deficit hyperactivity disorder, ASD autistic spectrum disorders, OCD obsessive–compulsive disorder.