Lancet neurology
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Amyotrophic lateral sclerosis (ALS) is characterised by the progressive degeneration of upper and lower motor neurons. Besides motor neuron degeneration, ALS is associated with several defects in energy metabolism, including weight loss, hypermetabolism, and hyperlipidaemia. ⋯ Findings from animal models of ALS support this view and provide insights into the underlying mechanisms. Altogether, these results have clinical consequences for the management of defective energy metabolism in patients with ALS and pave the way for future therapeutic interventions.
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dopamine transporter deficiency syndrome is the first identified parkinsonian disorder caused by genetic alterations of the dopamine transporter. We describe a cohort of children with mutations in the gene encoding the dopamine transporter (SLC6A3) with the aim to improve clinical and molecular characterisation, reduce diagnostic delay and misdiagnosis, and provide insights into the pathophysiological mechanisms. ⋯ dopamine transporter deficiency syndrome is a newly recognised, autosomal recessive disorder related to impaired dopamine transporter function. Careful characterisation of patients with this disorder should provide novel insights into the complex role of dopamine homoeostasis in human disease, and understanding of the pathophysiology could help to drive drug development.
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Randomized Controlled Trial Multicenter Study
Gene delivery of AAV2-neurturin for Parkinson's disease: a double-blind, randomised, controlled trial.
In an open-label phase 1 trial, gene delivery of the trophic factor neurturin via an adeno-associated type-2 vector (AAV2) was well tolerated and seemed to improve motor function in patients with advanced Parkinson's disease. We aimed to assess the safety and efficacy of AAV2-neurturin in a double-blind, phase 2 randomised trial. ⋯ Ceregene and Michael J Fox Foundation for Parkinson's Research.
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Cerebral malaria, a disorder characterised by coma, parasitaemia, and no other evident cause of coma, is challenging to diagnose definitively in endemic regions that have high rates of asymptomatic parasitaemia and limited neurodiagnostic facilities. A recently described malaria retinopathy improves diagnostic specificity. We aimed to establish whether retinopathy-positive cerebral malaria is a risk factor for epilepsy or other neurodisabilities. ⋯ US National Institutes of Health and Wellcome Trust.
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Management of symptoms in multiple sclerosis (MS) has received little attention compared with disease-modifying treatments. However, the effect of these symptoms on quality of life can be profound. Clinical trials of pharmacological drugs to treat symptoms of MS have often been underpowered and have used inappropriate measures of outcome. ⋯ Therefore, the evidence base on which to make clinical decisions is less than adequate. Interest in pharmacological treatment of symptoms in MS has increased in recent years, and several large randomised controlled trials have been reported. Pharmacological strategies are a core component of the treatment of these symptoms, but it is imperative to remember that a multidisciplinary rehabilitation approach is needed for effective management.