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

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

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.

Jaksot(189)

Ep. 188: Red flags of treatable rare myopathies

Ep. 188: Red flags of treatable rare myopathies

Moderator: Olimpia Musumeci (Messina, Italy) Guests: Antonio Toscano (Messina, Italy), Marianne De Visser (Amsterdam, Netherlands) In this episode, Olimpia Musumeci speaks with Antonio Toscano and Ma...

15 Helmi 32min

Ep. 187: Red flags of treatable rare cerebral small vessels diseases

Ep. 187: Red flags of treatable rare cerebral small vessels diseases

Moderator: Emanuele D’amico (Foggia, Italy) Guest: Anna Bersano (Milan, Italy) In this episode, Emanuele D’Amico speaks with Anna Bersano about red flags for rare and potentially treatable cerebral s...

8 Helmi 20min

Ep. 186: Red flags of treatable mitochondrial disorders

Ep. 186: Red flags of treatable mitochondrial disorders

Moderator: Piervito Lopriore (Pisa, Italy) Guests: Chiara La Morgia (Bologna, Italy), Michelangelo Mancuso (Pisa, Italy) In this episode, Piervito Lopriore discusses red flags for treatable mitochond...

1 Helmi 25min

Ep. 185: Cognition and movement: A dynamic duo

Ep. 185: Cognition and movement: A dynamic duo

Moderator: Yildiz Degirmenci (Istanbul, Türkiye) Guest: Marit Ruitenberg (Leiden, Netherlands) In this episode, Yıldız Değirmenci speaks with Marit Ruitenberg about the relationship between cognition...

25 Tammi 15min

Ep. 184: Neuromodulation

Ep. 184: Neuromodulation

Moderator: Gabriela Rusin (Kraków, Poland) Guest: Jakub Antczak (Kraków, Poland) In this episode, Gabriela Rusin speaks with Jakub Antczak about non-invasive neuromodulation in neurology. They outlin...

18 Tammi 27min

Ep. 183: Nerve ultrasound

Ep. 183: Nerve ultrasound

Moderator: Gabriela Rusin (Kraków, Poland) Guest: Jakub Antczak (Kraków, Poland) In this episode, Gabriela Rusin speaks with Jakub Antczak about the role of nerve ultrasound in neuromuscular diagnost...

11 Tammi 23min

Ep. 182: Small Fibre Neuropathy

Ep. 182: Small Fibre Neuropathy

Moderator: Caterina Leone (Rome, Italy) Guest: Andrea Truini (Rome, Italy) In this episode, Caterina Leone speaks with Andrea Truini about small fibre neuropathy, a frequently under-recognised condit...

4 Tammi 27min

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