eanCast: Weekly Neurology

Moderator: Cláudia Santos Silva (Lisbon, Portugal) Guest: Andrea Calvo (Turin, Italy) In this episode, Cláudia Santos Silva speaks with Andrea Calvo about the genetics of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). They discuss the shared genetic basis of these disorders, key disease-associated genes, and the role of genetic testing, counselling, and result interpretation in clinical practice, highlighting how genetic discoveries are advancing precision medicine and emerging gene-targeted therapies in ALS and FTD.

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: 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: 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 outline the principles of transcranial magnetic stimulation and transcranial electrical stimulation, emphasizing their role in modulating brain plasticity in network-based neurological disorders. The discussion reviews current clinical evidence across conditions such as stroke, neurodegenerative diseases, neuropathic pain, and Parkinson’s disease, highlighting variability in treatment response and key limitations. They also address practical considerations for clinical use, the importance of patient selection and combination with rehabilitation, and emerging techniques aimed at improving targeting and personalisation.

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 condition with a significant impact on patients’ quality of life. They discuss key clinical features, including neuropathic pain and autonomic symptoms, and explain why routine nerve conduction studies are often normal. The conversation highlights the role and limitations of skin biopsy and functional testing, the importance of identifying underlying causes, and practical approaches to diagnosis and management with realistic treatment expectations.