A family has been followed for more than a decade with periodic neurologic and neuropsychological examinations. Whole exome sequencing was performed in 3 affected and 1 unaffected family member.
Six patients fully developed cognitive-affective and complete motor cerebellar syndrome associated with cerebellar atrophy. Three presymptomatic patients showed cerebellar atrophy cerebellum, suggesting that cerebellar atrophy preceded the ataxia, and that the neurodegeneration begins in cerebellar areas related to cognition and emotion, spreading later to the whole cerebellum.
This report describes a heterozygous STUB1 pathogenic genetic variant causing dominant cerebellar ataxia.