Non-progressive congenital ataxia - advancing diagnosis to enhance chanses for targeted therapy

Objective Improve knowledge of non-progressive congenital (NPC) ataxia by investigating additional evidence to understand origin, natural history and impact.

We aim to enhance use of clinical criteria by refining training instruments for better identification of cases; develop a detailed neuroimaging classification to better identify patterns suggestive of acquired or genetic background; improve understanding of pathophysiology and identify indicators for a genetic background; provide a comprehensive description of functional profile: assess quality of life (QoL); study healthcare trajectories to increase the understanding of NPC ataxia.3 unique data sources are usedNew NPC ataxia cohort born 2016-2020: to characterise ataxia symptomatology, impairment profile, QoL, brain lesions, with complete genome analysis of unresolved cases, to produce combined data on clinical features/brain images/genomics Europe´s largest population-based collection on NPC ataxia born 1980-2015: to refine clinical criteria, definitions, syndromes and neuroimaging classification, using data already collected, and systematically reanalyse MRI images and genetic analysis results  Real-world data, to identify patients with NPC ataxia in health data sources to investigate healthcare trajectories.

Outputs for practice and research, to convey a common understanding of NPC ataxia: ARTEMIS cohort, a Novel evidence knowledge base tool, an Evidence presentation tool and a Training tool. Scientific publications.