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 ...
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 ...
BMJ12d
Cognitive presentation of multiple sclerosis: evidence for a cortical variant
Background: Although neuropsychiatric complications are well recognised, the presentation of multiple sclerosis with cognitive or neuropsychiatric symptoms has generally been considered a rare ...
BMJ7d
Low vitamin B-12 status in confirmed Alzheimer’s disease as revealed by serum holotranscobalamin
2 Oxford Project to Investigate Memory and Aging (OPTIMA), Department of Pharmacology, University of Oxford Correspondence to: Professor A David Smith, University Department of Pharmacology, Mansfield ...
BMJ8d
Which neuropsychiatric and behavioural features distinguish frontal and temporal variants of frontotemporal dementia from Alzheimer's disease?
OBJECTIVES To investigate the prevalence of changes in mood, personality, and behaviour in frontotemporal dementia (FTD) and Alzheimer's disease (AD) and hence, which features reliably distinguish ...
BMJ12d
Both total and phosphorylated tau are increased in Alzheimer's disease
Dr M Sjögren, Institute of Clinical Neuroscience, Sahlgrenska Universitetssjukhuset Mölndal, SE 431 80 Mölndal, Swedenmagnus.sjogren{at}medfak.gu.se BACKROUND Pathological tau protein concentrations ...
BMJ12d
Acquired hepatocerebral degeneration: full recovery after liver transplantation
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be ...
BMJ1d
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 ...
BMJ12d
Cerebellar, hippocampal and basal nuclei transient edema with restricted diffusion (CHANTER) syndrome: a case report
A 45-year-old male was found obtunded after a suspected mixed overdose of benzodiazepines and pregabalin. He had a past medical history of intravenous heroin use and was on methadone replacement.