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Journal of Neurology, Neurosurgery, and Psychiatry
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#2E. Bugiardini (UCL: University College London)H-Index: 4
Last. N. James (UCL: University College London)H-Index: 1
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Primary mitochondrial diseases (PMD) are heterogeneous disorders caused by mutations in nuclear DNA-encoded and mitochondrial DNA (mtDNA)-encoded genes. Neurological impairment is common and reflects the susceptibility of the central nervous system to alterations in mitochondrial oxidative metabolism. Case reports and small-scale cross-sectional studies in PMD have suggested a high comorbidity with neuropsychiatric syndromes, including mood disorders (online supplementary table 1).1 However, the...
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### Introduction Clinicians are increasingly recognising neurological presentations occur in some patients.1 A case series from Wuhan described associated neurological syndromes (eg, ‘dizziness’ and ‘impaired consciousness’), but with little detail regarding symptomatology, and cerebrospinal fluid (CSF) and neuroimaging findings.2 The extent to which these disorders were caused by the virus per se, rather than being complications of critical illness, unmasking of degenerative disease, or iatroge...
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#1Didu S. T. Kariyawasam (UNSW: University of New South Wales)H-Index: 1
#2Ian E. AlexanderH-Index: 32
Last. Michelle A. Farrar (UNSW: University of New South Wales)H-Index: 14
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Gene therapy (GT) has tremendous potential for the treatment of neurological disorders to transform patient care. The successful application of virus-mediated GT to treat spinal muscular atrophy is a significant milestone, serving to accelerate similar progress in a spectrum of neurological conditions, with more than 50 clinical trials currently underway, across neurodevelopmental, neurodegenerative, muscular dystrophy, epilepsy, chronic pain and neoplastic diseases. This review provides an over...
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Congenital myasthenic syndromes (CMS) are a group of rare inherited disorders of neuromuscular transmission.1 Clinical presentations range from predominant ptosis, ophthalmoparesis, facial and bulbar weakness, and generalised muscle weakness to predominant limb girdle weakness with sparing of the eye and face muscles. Symptoms may appear during the neonatal period, late childhood, adolescence or even adulthood. Clinical presentation and response to treatment may be influenced by the underlying m...
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#1Clemens Gstoettner (Medical University of Vienna)
#2Johannes A. MayerH-Index: 2
Last. Oskar C. Aszmann (Medical University of Vienna)H-Index: 25
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Neuralgic amyotrophy (NA), also known as Parsonage-Turner syndrome, is characterised by sudden pain attacks, followed by patchy muscle paresis in the upper extremity. Recent reports have shown that incidence is much higher than previously assumed and that the majority of patients never achieve full recovery. Traditionally, the diagnosis was mainly based on clinical observations and treatment options were confined to application of corticosteroids and symptomatic management, without proven positi...
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Few principles are as essential to the education of developing scientists as the role of the null hypothesis in inferential statistics and research in general. This is often taught as directly analogous to the principle of being considered innocent in a court of law until proven guilty. In at least some cases, the consequences of ignoring this scientific principle and embracing an alternate hypothesis without sufficient proof can be substantial, and equivalent to a premature assumption of guilt....
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#1Anette Schrag (UCL: University College London)H-Index: 61
#2Niall Quinn (UCL: University College London)H-Index: 101
Twenty years ago, we published a paper examining which of the clinical features of Parkinson’s disease (PD) were most closely associated with patients’ self-reported health-related quality of life (HR-QoL).1 In the early 1990s, the focus of clinical management and treatment trials in PD had been the development of better management options for the motor features and complications of therapy, such as motor fluctuations and dyskinesias. The key target in clinical trials was improvement on the prim...
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Whether you are a general practitioner or a movement disorders specialist, you have seen patients with tremor, the most frequent movement disorder and the most common sign in clinical neurology.1 In spite of its prevalence, tremor is a complex and often misdiagnosed disorder, especially by non-specialists. Furthermore, a number of false beliefs still populate our textbooks and are taught in medical schools (box 1). In this context, the review by van de Wardt et al 2 is a very timely exercise in ...
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Tremor is the most common movement disorder worldwide, but diagnosis is challenging. In 2018, the task force on tremor of the International Parkinson and Movement Disorder Society published a consensus statement that proposes a tremor classification along two independent axes: a clinical tremor syndrome and its underlying aetiology. In line with this statement, we here propose a stepwise diagnostic approach that leads to the correct clinical and aetiological classification of upper limb tremor. ...
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#2Tina Mainka (Charité)H-Index: 10
Last. Christos Ganos (Charité)H-Index: 21
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Self-injurious behaviours (SIBs) are defined as deliberate, repetitive and persistent behaviours that are directed towards the body and lead to physical injury and are not associated with sexual arousal and without suicidal intent. In movement disorders, SIBs are typically associated with tic disorders, most commonly Tourette syndrome, and neurodegenerative conditions, such as classic Lesch-Nyhan syndrome. However, beyond these well-known aetiologies, a range of other movement disorder syndromes...
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