preprints.org > medicine and pharmacology > neuroscience and neurology > doi: 10.20944/preprints202312.0428.v1

Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

Version 1 : Received: 6 December 2023 / Approved: 6 December 2023 / Online: 6 December 2023 (14:38:29 CET)

Cerebellar ataxias are a wide heterogeneous group of movement disorders. Within this broad umbrella of diseases, there are both genetics and sporadic forms. The clinical presentation of these conditions can exhibit a diverse range of symptoms across different age groups, spanning from pure cerebellar manifestations to sensory ataxia and multisystemic diseases. Over the last few decades, advancements in our understanding of genetics and molecular pathophysiology related to both dominant and recessive ataxias have propelled the field forward, paving the way for in-novative therapeutic strategies aimed at preventing and arresting the progression of these diseas-es. Nevertheless, the rarity of certain forms of ataxia continues to pose challenges, leading to lim-ited insights into the etiology of the disease and the identification of target pathways. Addition-ally, the lack of suitable models hampers efforts to comprehensively understand the molecular foundations of disease pathophysiology and test novel therapeutic interventions. In the following review, we describe the epidemiology, symptomatology, and pathological progression of heredi-tary ataxia, including both the prevalent and less common forms of these diseases. Furthermore, we illustrate the diverse molecular pathways and therapeutic approaches currently undergoing investigation in both pre-clinical studies and clinical trials. Finally, we address the existing and anticipated challenges within this field, encompassing both basic research and clinical endeavors.

Ataxia; cerebellum; therapy

Medicine and Pharmacology, Neuroscience and Neurology

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