Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Aug 2023
Meta AnalysisDecompression alone versus decompression with instrumented fusion in the treatment of lumbar degenerative spondylolisthesis: a systematic review and meta-analysis of randomised trials.
To determine the efficacy of adding instrumented spinal fusion to decompression to treat degenerative spondylolisthesis (DS). ⋯ CRD42022308267.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2023
ReviewUNC13A in amyotrophic lateral sclerosis: from genetic association to therapeutic target.
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with limited treatment options and an incompletely understood pathophysiology. Although genomewide association studies (GWAS) have advanced our understanding of the disease, the precise manner in which risk polymorphisms contribute to disease pathogenesis remains unclear. Of relevance, GWAS have shown that a polymorphism (rs12608932) in the UNC13A gene is associated with risk for both ALS and frontotemporal dementia (FTD). ⋯ Recent discoveries have identified UNC13A as a potential target for therapy development in ALS, with a confirmatory trial with lithium carbonate in UNC13A cases now underway and future approaches with antisense oligonucleotides currently under consideration. Considering UNC13A is a potent phenotypic modifier, it may also impact clinical trial outcomes. This present review describes the path from the initial discovery of UNC13A as a risk gene in ALS to the current therapeutic options being explored and how knowledge of its distinct phenotype needs to be taken into account in future trials.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2023
ReviewRecent advances in neuroanatomy: the myotome update.
The myotome of a muscle is the basis for diagnosing spinal and peripheral nerve disorders. Despite its critical importance in clinical neurology, myotome charts presented in many textbooks, surprisingly, show non-negligible discordances with each other. Many authors do not even clearly state the bases of their charts. ⋯ T1 innervation of the median intrinsic hand muscles is a typical example. We have added a number of new findings, such as T1 innervation of the forearm flexor muscles innervated by the median nerve except the pronator teres and flexor carpi radialis, C5 innervation of the brachioradialis, and two C6 indicator muscles, pronator teres and extensor carpi radialis brevis. Increased accuracy of the myotome charts will improve the localisation in neurology.
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J. Neurol. Neurosurg. Psychiatr. · Jun 2023
ReviewStructural and functional changes in the retina in Parkinson's disease.
Parkinson's disease is caused by degeneration of dopaminergic neurons, originating in the substantia nigra pars compacta and characterised by bradykinesia, rest tremor and rigidity. In addition, visual disorders and retinal abnormalities are often present and can be identified by decreased visual acuity, abnormal spatial contrast sensitivity or even difficulty in complex visual task completion. Because of their early onset in patients with de novo Parkinson's disease, the anatomical retinal changes and electrophysiological modification could be valuable markers even at early stages of the disease. ⋯ We review the underlying chemical changes seen with loss of retinal dopaminergic neurons and the effect of levodopa treatment on the retina in Parkinson's disease. Finally, we consider whether retinal abnormalities in Parkinson's disease could have a role as potential markers of poorer outcomes and help stratify patients at early stages of the disease. We emphasise that retinal measures can be valuable, accessible and cost-effective methods in the early evaluation of Parkinson's disease pathogenesis with potential for patient stratification.
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J. Neurol. Neurosurg. Psychiatr. · May 2023
ReviewPsychiatric symptoms in multiple sclerosis: a biological perspective on synaptic and network dysfunction.
Psychiatric symptoms frequently occur in multiple sclerosis (MS), presenting with a complex phenomenology that encompasses a large clinical spectrum from clear-cut psychiatric disorders up to isolated psychopathological manifestations. Despite their relevant impact on the overall disease burden, such clinical features are often misdiagnosed, receive suboptimal treatment and are not systematically evaluated in the quantification of disease activity. ⋯ Here, we review MS psychopathological manifestations under a biological perspective, highlighting the pathogenic relevance of synaptic and neural network dysfunction. Evidence obtained from human and experimental disease models suggests that MS-related psychiatric phenomenology is part of a disconnection syndrome due to diffuse inflammatory and neurodegenerative brain damage.