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Progressive ataxia and cognitive decline in a 67-year-old male: a diagnostic challenge.
We report the case of a 67-year-old male who presented with a six-week history of progressive unsteadiness, cognitive impairment and weight loss, in the context of a recent bereavement. Magnetic resonance imaging (MRI) performed several weeks earlier excluded acute stroke. Examination revealed gross bilateral ataxia, bradyphrenia and physical manifestations of depression. Collateral history suggested rapidly progressing symptoms over three months. Repeat MRI head showed features suggestive of Creutzfeldt-Jakob disease (CJD) including T2 hyperintensities in the basal ganglia. Cerebrospinal ˜fluid (CSF) samples were positiv...
Source: Journal of the Royal College of Physicians of Edinburgh - September 17, 2020 Category: General Medicine Tags: J R Coll Physicians Edinb Source Type: research

Forme fruste anti-GQ1b-negative Miller Fischer syndrome masquerading as posterior circulation stroke.
In this report, a case of MFS is highlighted that was mistakenly treated as posterior circulation stroke, as well as the challenges faced in reaching the correct diagnosis and hence the appropriate treatment. PMID: 31808458 [PubMed - in process]
Source: Journal of the Royal College of Physicians of Edinburgh - December 7, 2019 Category: General Medicine Tags: J R Coll Physicians Edinb Source Type: research

The medical research council neuromuscular centre for translational research mitochondrial disease patient cohort study uk: from conceptualisation to utilisation
Conclusion For the first time in the UK it is possible to access a large cohort of well–characterised patients with mitochondrial disease. The cohort provides objective data on mitochondrial disease progression, in children and adults, allowing evidence–based guidelines to be developed, and prognostic advice to be provided to patients and families. There is a vast amount of data still to be analysed that will provide systematic evidence and allow the development of disease prevention strategies.
Source: Journal of Neurology, Neurosurgery and Psychiatry - October 9, 2013 Category: Neurosurgery Authors: Nesbitt, V., Pitceathly, R., Cockell, S., Poulton, J., Rahman, S., Hanna, M., Taylor, R., Chinnery, P., Turnbull, D., McFarland, R. Tags: Genetics, Epilepsy and seizures, Headache (including migraine), Muscle disease, Neuromuscular disease, Stroke, Musculoskeletal syndromes Association of British Neurologists (ABN) joint meeting with the Royal College of Physicians (RCP), London, 23-24 Oc Source Type: research