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.

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Avsnitt(211)

Ep. 211: More Than Words: The Neuroscience of Human Voice

Ep. 211: More Than Words: The Neuroscience of Human Voice

In this episode, Elisa Canu speaks with Sophie Scott.

26 Juli 0s

Ep. 210: Parkinson’s Disease: Exploring the Interaction between Motor and Language Impairments

Ep. 210: Parkinson’s Disease: Exploring the Interaction between Motor and Language Impairments

In this week’s episode, Elka Stefanova and Marua Panozzo Chiomento discuss how Parkinson’s disease affects language and communication.

19 Juli 0s

Ep. 209: From Gesture to Language: The Evolution of the Motor System-Language Interface

Ep. 209: From Gesture to Language: The Evolution of the Motor System-Language Interface

Moderator: Elka Stefanova (Belgrade, Serbia) Guest: Stefano Francesco Cappa (Milan, Italy) In this episode, Elka Stefanova speaks with Stefano Francesco Cappa about the relationship between languag...

12 Juli 28min

Ep. 208: Language: The Bridge Between a Noisy World and a Stable Mind

Ep. 208: Language: The Bridge Between a Noisy World and a Stable Mind

Moderator: Elisa Canu (Milan, Italy) Guest: Cornelius Weiller (Freiburg, Germany) In this episode, Elisa Canu speaks with Cornelius Weiller about the neural architecture underlying language, conce...

5 Juli 32min

Ep. 207: Pills to face burnout and the role of occupational health therapists

Ep. 207: Pills to face burnout and the role of occupational health therapists

Moderator: Gail Kinman (London, UK) Guest: Alice Accorroni (Geneva, Switzerland) In this episode, Alice Accorroni speaks with Gail Kinman about burnout in healthcare and the role of occupational h...

28 Juni 32min

Ep. 206: Genetics in ALS and frontotemporal dementia – from pathophysiology to treatment

Ep. 206: Genetics in ALS and frontotemporal dementia – from pathophysiology to treatment

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 scler...

21 Juni 19min

Ep. 205: Neurofilaments as Biomarkers in ALS and frontotemporal dementia: From Bench to Bedside

Ep. 205: Neurofilaments as Biomarkers in ALS and frontotemporal dementia: From Bench to Bedside

Moderator: Raffaele Dubbioso (Naples, Italy) Guest: Andrea Malaspina (London, UK) and Francesco Di Lorenzo (Rome, Italy) In this episode, Raffaele Dubbioso speaks with Andrea Malaspina and Frances...

14 Juni 34min

Ep. 204: Social Cognition in ALS – beyond motor neurons

Ep. 204: Social Cognition in ALS – beyond motor neurons

Moderator: Elisa Canu (Milan, Italy) Guest: Anna Gilioli (Milan, Italy) In this episode, Elisa Canu speaks with Anna Gilioli about social cognition impairment in amyotrophic lateral sclerosis (ALS...

7 Juni 12min

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