Introduction Huntington's Disease (HD) is an autosomal dominant neurodegenerative disease caused by polyglutamine repeat expansion in the Huntington ‘htt’ gene. HD is characterised by motor and ...

Mutations in the dysferlin gene lead to limb girdle muscular dystrophy 2B, Miyoshi myopathy and distal anterior compartment myopathy. A cohort of 36 patients affected by dysferlinopathy is described, ...

Chris Butler studied medicine at Gonville and Caius College, Cambridge (1991–1994) and then at the University of Edinburgh (1994–1997). He conducted his PhD on the syndrome of transient epileptic ...

Adult-onset leukodystrophies and genetic leukoencephalopathies comprise a diverse group of neurodegenerative disorders of white matter with a wide age of onset and phenotypic spectrum. Patients with ...

OBJECTIVES Deep brain stimulation of the basal ganglia has become a promising treatment option for patients with Parkinson's disease who have side effects from drugs. Which is the best target—globus ...

1 Department of Neurology, University of Virginia School of Medicine, Charlottesville, USA 2 Department of Health Evaluation Sciences, University of Virginia School of Medicine Correspondence to: Dr G ...

Correspondence to Professor Martin R Turner, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK; martin.turner{at}ndcn.ox.ac.uk Background Premorbid body mass ...

Objective To report the diagnostic utility of the Six-Item Cognitive Impairment Test (6CIT), a brief (2–3 minute) cognitive screening instrument, for the detection of dementia and mild cognitive ...

a Department of Clinical Psychology, St John’s Hospital, Howden Road West, Livingston, West Lothian EH54 6PP, Scotland, UK, b Department of Psychology, Stirling University, Stirling, Scotland, UK Dr ...

Aim We instinctively look towards faces expressing strong emotions such as fear. This survival-critical response – potentially alerting us to danger – requires rapid detection (sensory) and ...

Background: Classification of traumatic brain injury (TBI) severity guides management and contributes to determination of prognosis. Common indicators of TBI severity include Glasgow Coma Scale (GCS) ...

Objectives Dopamine-dysregulation syndrome (DDS) is an uncommon complication of the treatment of Parkinson’s disease, characterised by addictive behaviour and excessive use of dopamine medication.