BMJ6h
Zinc-induced copper deficiency in Wilson disease
1 Department of Neurology, University Hospitals of Geneva, Geneva, Switzerland 2 Department of Haematology, University Hospitals of Geneva, Geneva, Switzerland 3 Department of Gastroenterology, ...
BMJ1d
Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C
Background: m.14487T>C, a missense mutation (p.M63V) affecting the ND6 subunit of complex I of the mitochondrial respiratory chain, has been reported in isolated childhood cases with Leigh syndrome ...
BMJ1d
Genetic variants in incident SUDEP cases from a community-based prospective cohort with epilepsy
Objective Sudden unexpected death in epilepsy (SUDEP) is a leading cause of epilepsy-related mortality in young adults. It has been suggested that SUDEP may kill over 20 000 people with epilepsy in ...
BMJ5d
Mayo and NINDS scales for assessment of tendon reflexes: between observer agreement and implications for communication
a Department of Neurology, b Department of Clinical Epidemiology, Utrecht University Hospital, Utrecht, The Netherlands Professor J van Gijn, University Department of Neurology, Academic Hospital, ...
BMJ6d
Cladribine: mechanisms and mysteries in multiple sclerosis
Correspondence to Dr Benjamin Meir Jacobs, Centre for Neuroscience and Trauma, Blizard Institute, Barts and The London School of Medicine and Dentistry, London E1 2AT, UK; ben.meir.jacobs{at}gmail.com ...
BMJ4d
Epilepsy: an autoimmune disease?
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BMJ2d
Proximity extension assay testing reveals novel diagnostic biomarkers of atypical parkinsonian syndromes
Objective The high degree of clinical overlap between atypical parkinsonian syndromes (APS) and Parkinson’s disease (PD) makes diagnosis challenging. We aimed to identify novel diagnostic protein ...
BMJ6d
Patient with ALS with a novel TBK1 mutation, widespread brain involvement, behaviour changes and metabolic dysfunction
Correspondence to Dr Frederik J Steyn, Centre for Clinical Research, The University of Queensland, Brisbane, QLD 4072, Australia; f.steyn{at}uq.edu.au This male patient was first seen at age 62 years ...
BMJ1d
Myelin oligodendrocyte glycoprotein-associated disorders are associated with HLA subtypes in a Chinese paediatric-onset cohort
Objective Myelin oligodendrocyte glycoprotein-associated disorders (MOGADs) are a rare new neurological autoimmune disease with unclear pathogenesis. Since a linkage of the disease to the human ...
BMJ6d
084 Separating stroke from vestibular neuritis by vestibular function test parameters
4 The George Institute for Global Heath, University of New South Wales, Sydney, NSW, Australia 5 Institute of Clinical Neurosciences, Royal Prince Alfred Hospital, Central Clinical School University ...
BMJ5d
128 Efficacy and safety of deep brain stimulation in Parkinson’s disease: systematic review and meta-analysis
Background Deep brain stimulation (DBS) is a neurosurgical procedure indicated in patients with advanced Parkinson’s disease (PD). This systematic review and meta-analysis aimed to investigate the ...
BMJ5d
Diabetic amyotrophy: too painful to explore?
Background Diabetic Amyotrophy is a rare disabling complication of diabetes mellitus. It presents as an acute or subacute, often unilateral painful neurogenic process. Early recognition and effective ...