National consensus on the diagnosis, treatment and prevention of hereditary cerebellar ataxias

2025

Abstract

Hereditary cerebellar ataxias (HCAs) represent a large group of disorders that are heterogeneous in clinical and genetic context. In some forms an isolated pan-cerebellar syndrome is present, while in others extracerebellar manifestations are observed, such as retinal pigmentary degeneration, extrapyramidal movement disorders, pyramidal manifestations, cortical involvement (epileptic seizures, cognitive and behavioural disorders), neuropathy and involvement of other organs and systems.
In the last 20 years, with the rapid development of genetics and the expansion of molecular and genetic methods of diagnosis, the knowledge about HCA has significantly expanded, and more specifically the knowledge about their underlying gene defects and pathogenetic mechanisms which could be the basis for future therapeutic strategies.