eanCast: Weekly Neurology

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.

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 Marianne de Visser about hereditary, particularly metabolic, and acquired myopathies, especially idiopathic inflammatory myopathies amenable to treatment. They review advances in pathophysiology, diagnostic approaches and novel therapies, highlighting clinical red flags and strategies that have a significant impact on timely diagnosis and management in daily neurological practice.

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 small vessel diseases. They discuss how early onset, family history, multisystem involvement, and characteristic MRI patterns can help distinguish monogenic and metabolic forms from sporadic disease, focusing on conditions such as CADASIL, Fabry disease, CARASIL, and COL4A1/2-related angiopathies, and emphasising the importance of structured diagnostic pathways and early recognition for appropriate management.

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 mitochondrial diseases with Michelangelo Mancuso and Chiara La Morgia. They highlight the clinical heterogeneity of these disorders, key diagnostic clues in neurological practice, and selected conditions such as Friedreich ataxia, TK2 deficiency, Barth syndrome, and Leber hereditary optic neuropathy, with a focus on early recognition and targeted therapies.

Moderator: Yildiz Degirmenci (Istanbul, Türkiye)
Guest: Marit Ruitenberg (Leiden, Netherlands)

In this episode, Yıldız Değirmenci speaks with Marit Ruitenberg about the relationship between cognition and movement in neurodegenerative disorders. They discuss evidence showing that conditions traditionally classified as motor or cognitive often involve impairments across both domains, with examples from Parkinson’s disease, Huntington’s disease, and Alzheimer’s disease. The conversation highlights subtle cognitive and motor features that may be overlooked and emphasises the clinical relevance of integrated assessment for diagnosis, patient counselling, and understanding disease burden.