# Ep. 189: Red flags of treatable (spino)cerebellar ataxias

Page: https://stenobird.com/podcast/eancast-weekly-neurology-5497158/ep-189-red-flags-of-treatable-spino-cerebellar-ataxias
Text version: https://stenobird.com/podcast/eancast-weekly-neurology-5497158/ep-189-red-flags-of-treatable-spino-cerebellar-ataxias.md
Podcast: [eanCast: Weekly Neurology](https://stenobird.com/podcast/eancast-weekly-neurology-5497158)
Published: 2026-02-22T23:15:00+00:00
Episode link: https://eancast.podigee.io/189-neue-episode
Audio file: https://audio.podigee-cdn.net/2360342-m-426a76a8f83787119a7bf1d3235bea97.mp3?source=feed
Processing state: not_requested
JSON: https://stenobird.com/v1/public/podcasts/eancast-weekly-neurology-5497158/episodes/ep-189-red-flags-of-treatable-spino-cerebellar-ataxias
Duration seconds: 2750

## Resource

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.

## Actions

- request_transcript: `POST https://stenobird.com/v1/public/podcasts/eancast-weekly-neurology-5497158/episodes/ep-189-red-flags-of-treatable-spino-cerebellar-ataxias/transcription-requests` — Idempotently request low-priority transcript generation for this episode.
- read_markdown: `GET https://stenobird.com/podcast/eancast-weekly-neurology-5497158/ep-189-red-flags-of-treatable-spino-cerebellar-ataxias.md` — Read the agent-friendly Markdown representation of this episode resource.

A page view does not enqueue transcription. Agents should invoke `request_transcript` explicitly when they need this episode processed.

## Transcript

Full transcripts are not published on public pages unless there is a clear rights basis.