Genetic testing is a useful tool for any practising neurologist, but they must know how to interpret the results. This Editors' Choice podcast features two experts on the subject, Prof. Mary Reilly¹ and Dr. Christopher Record¹. They're in the studio to talk through their paper, covering the technology of genome sequencing itself, testing strategies, clinical use cases, and the constant changes in this developing field.

Read the paper:

Lessons and pitfalls of whole genome sequencing

1. Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK

Please subscribe to the Practical Neurology podcast on your favourite platform to get the latest episodes. If you enjoy our podcast, you can leave us a review or a comment on Apple Podcasts (https://apple.co/3vVPClm) or Spotify (https://spoti.fi/4baxjsQ). We'd love to hear your feedback on social media - @PracticalNeurol.

This episode was hosted by PN's podcast editor Dr. Amy Ross Russell. Production by Letícia Amorim, Brian O'Toole, and Amy Ross Russell. Editing by Brian O'Toole.

Journal editors Prof. Philip Smith and Dr. Geraint Fuller discuss the August 2024 issue of Practical Neurology, with room for mystery, history and practical advice. In particular, they cover topics like whole genome sequencing, foot surgery for Charcot-Marie-Tooth disease, safe prescribing in steroids, and fertility treatment for the epileptic. There are also good reasons for dusting off the old optokinetic nystagmus drum, and a touching story of neuro palliative care.

Read the Highlights - https://pn.bmj.com/content/24/4/261 - and the full issue - https://pn.bmj.com/content/24/4.

Please subscribe to the Practical Neurology podcast on your favourite platform to get the latest podcast every month. If you enjoy our podcast, you can leave us a review or a comment on Apple Podcasts (https://apple.co/3vVPClm) or Spotify (https://spoti.fi/4baxjsQ). We'd love to hear your feedback on social media - @PracticalNeurol.

The PN podcast is produced by Letícia Amorim and edited by Brian O'Toole. Thank you for listening.

Two highly unusual cases in this edition of Case Reports. The first case describes a 64-yo woman presenting to the emergency department with a five day history of bizarre behaviours (1:45). A BBC radio show prompts her, out of character, to reflect aloud about her childhood, and she experiences recurrent periods of unresponsiveness followed by intense agitation. She was kept in hospital for scans and discharged after two weeks, but returned soon after with a similar presentation - (link)

A lifetime bodybuilder is the patient in the second case (21:12), with a practice of anabolic steroid injection over several decades. He presents with a three year history of unsteadiness when walking and tingling in his feet, as well as reduced dexterity. His symptoms are found to be brought on by a toxicity from an unexpected source - (link)

The case reports discussion is hosted by Prof. Martin Turner (1), who is joined by Dr. Ruth Wood (2) and Dr. Xin You Tai (3) for a group examination of the features of each presentation, followed by a step-by-step walkthrough of how the diagnosis was made. These case reports and many others can be found in the June 2024 issue of the journal.

(1) Professor of Clinical Neurology and Neuroscience at the Nuffield Department of Clinical Neurosciences, University of Oxford, and Consultant Neurologist at John Radcliffe Hospital. (2) Neurology Registrar, University Hospitals Sussex. (3) Clinical Academic Fellow, Nuffield Department of Clinical Neurosciences, Oxford University, and Neurology Specialty registrar, Oxford University Hospital. Listen to the JNNP podcast, "Nutritional peripheral neuropathies, with Dr. Alexander Rossor" on Apple (https://apple.co/3WjTmrM), Spotify (https://spoti.fi/4bKOhNA), Web (https://bit.ly/4cYhx4m).

Please subscribe to the Practical Neurology podcast on your favourite platform to get the latest podcast every month. If you enjoy our podcast, you can leave us a review or a comment on Apple Podcasts (https://apple.co/3vVPClm) or Spotify (https://spoti.fi/4baxjsQ). We'd love to hear your feedback on social media - @PracticalNeurol. This episode was produced and edited by Brian O'Toole. Thank you for listening.