Show Notes
Moderator: João Durães (Coimbra, Portugal) Guests: Paola Giunti (London, UK), Lidia Sarro (Milan, Italy)
In this episode, João Durães, Paola Giunti and Lidia Sarro provide a rigorous examination of the diagnostic and therapeutic landscape of treatable ataxias, focusing on rare variants. The discussion first delineates autoimmune etiologies, such as anti-GAD, paraneoplastic, and gluten-related syndromes, before transitioning to a detailed review of acquired and genetic metabolic disorders, including vitamin deficiencies, NPC, Refsum disease, Glut1 deficiency, CTX, and Wilson’s disease among others. By highlighting critical clinical and paraclinical "red flags," the contributors offer a framework for accelerating differential diagnosis. The session concludes with an analysis of contemporary pharmacological advancements, notably the recent EMA approval for Friedreich’s Ataxia and the efficacy of repurposed drugs in treating genetic forms such as EA1/2 and SCA27B.
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