Journal of neurology, neurosurgery, and psychiatry
-
J. Neurol. Neurosurg. Psychiatr. · Sep 2018
Multicenter StudyNusinersen for SMA: expanded access programme.
Spinal muscular atrophy (SMA) is a devastating motor neuron disorder causing progressive muscle weakness and respiratory insufficiency. We present the initial Australian experiences implementing the expanded access programme (EAP) to enable preapproval access to nusinersen, the first disease-modifying therapy, for SMA type 1. ⋯ The nusinersen EAP highlights difficulties in achieving early diagnosis and/or prevention, the evolution of optimal clinical care in a time of uncertain prognostication, resource implications and ethical issues in clinical practice for SMA type 1. These challenges are broadly relevant to the realisation of all novel therapeutics in neurological disorders.
-
J. Neurol. Neurosurg. Psychiatr. · Sep 2018
ReviewConvergent molecular defects underpin diverse neurodegenerative diseases.
In our ageing population, neurodegenerative disorders carry an enormous personal, societal and economic burden. Although neurodegenerative diseases are often thought of as clinicopathological entities, increasing evidence suggests a considerable overlap in the molecular underpinnings of their pathogenesis. ⋯ With the advent of patient-derived cellular models and novel genetic manipulation tools, we are now able to interrogate this commonality despite the cellular complexity of the brain in order to develop novel therapeutic strategies to prevent or arrest neurodegeneration. Here, we describe broadly these concepts and their relevance across neurodegenerative diseases.
-
J. Neurol. Neurosurg. Psychiatr. · Sep 2018
CSF cytokine profile in MOG-IgG+ neurological disease is similar to AQP4-IgG+ NMOSD but distinct from MS: a cross-sectional study and potential therapeutic implications.
To evaluate cerebrospinal fluid (CSF) cytokine profiles in myelin oligodendrocyte glycoprotein IgG-positive (MOG-IgG+) disease in adult and paediatric patients. ⋯ The CSF cytokine profile in the acute phase of MOG-IgG+ disease is characterised by coordinated upregulation of T helper 17 (Th17) and other cytokines including some Th1-related and regulatory T cells-related ones in adults and children, which is similar to AQP4-IgG+ NMOSD but clearly different from MS. The results suggest that as with AQP4-IgG+ NMOSD, some disease-modifying drugs for MS may be ineffective in MOG-IgG+ disease while they may provide potential therapeutic targets.
-
J. Neurol. Neurosurg. Psychiatr. · Sep 2018
Collateral status affects the onset-to-reperfusion time window for good outcome.
To characterise the time window in which endovascular thrombectomy (EVT) is associated with good outcome, and to test the differential relationship between functional outcome and onset-to-reperfusion time (ORT), depending on collateral status. ⋯ Earlier successful recanalisation was strongly associated with good outcome in poor collateral group; however, this association was weak during the tested time window in good collateral group. This suggests that the ORT window for good outcome can be adjusted according to collateral status.