Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Dec 2024
Telomere length, in vivo Alzheimer's disease pathologies and cognitive decline in older adults.
Whether telomere length (TL), an indicator of biological ageing, reflects Alzheimer's disease (AD)-related neuropathological change remains unclear. We investigated the relationships between TL, in vivo AD pathologies, including cerebral beta-amyloid and tau deposition, and cognitive outcomes in older adults. ⋯ Our finding suggests that older adults with relatively longer TL, particularly in the CI group, may have greater in vivo AD pathologies and experience more rapid cognitive decline, potentially mediated by brain tau deposition. Further studies are necessary to elucidate the biological links underlying these associations.
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J. Neurol. Neurosurg. Psychiatr. · Dec 2024
Incidence and prevalence of functional neurological disorder: a systematic review.
Robust epidemiological data regarding population incidence and prevalence of functional neurological disorder (FND) would be helpful with regards to resource allocation and planning for this disorder, particularly given high symptom burden and high healthcare utilisation. We therefore aimed to systematically review and synthesise available data on FND incidence and prevalence. ⋯ The range of incidence and prevalence varies widely across studies, with significant heterogeneity among studies and most studies likely provide underestimates due to methodological challenges. However, using our best method as a conservative estimate, there are likely a minimum of 50-100 000 people with FND in the UK, as an example country. Given that FND appears to be more prevalent than many other well-known and well-funded neurological disorders, incidence and prevalence data suggested here indicate the need for greater research and clinical funding allocation to FND programmes.
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J. Neurol. Neurosurg. Psychiatr. · Dec 2024
ReviewNeuropathy with anti-myelin-associated glycoprotein antibodies: update on diagnosis, pathophysiology and management.
Antimyelin-associated glycoprotein (MAG) neuropathy is a rare autoimmune demyelinating peripheral neuropathy caused by IgM autoantibodies targeting MAG. The typical presentation is that of a slowly progressive, distal, length-dependent, predominantly sensory, sometimes ataxic neuropathy, frequently accompanied by upper limb tremor. Distal motor weakness may subsequently occur. ⋯ Symptom control is otherwise frequently needed. Outcome measures used for other inflammatory neuropathies present limitations in anti-MAG neuropathy. International registries such as the planned IMAGiNe study may, in future, provide answers to the many remaining questions.
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J. Neurol. Neurosurg. Psychiatr. · Dec 2024
Environmental multiple sclerosis (MS) risk factors, genetic MS risk, and brain development in a general paediatric population.
Neuroaxonal loss occurs in the early stages of multiple sclerosis (MS), but whether it results from early inflammatory brain damage or an ongoing neurodegenerative process remains unclear. We hypothesise that genetic and childhood environmental risk factors for MS may already have an impact on neurodevelopment before the typical age of onset for MS in the general population. ⋯ Genetic and environmental risk factors for MS interact to influence brain volumes in childhood, suggesting a potential window for preventing MS in genetically susceptible individuals by reducing exposure to household smoking.
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J. Neurol. Neurosurg. Psychiatr. · Dec 2024
Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease.
Alexander disease is an autosomal dominant leukodystrophy caused by heterozygous pathogenic variants in the glial fibrillar acidic protein (GFAP) gene. Although increasingly recognised, there is evidence that Alexander disease, particularly later-onset disease, is significantly underdiagnosed and its true prevalence is unknown (the only population-based prevalence was estimated at one in 2.7 million). Using the extensive UK Biobank dataset, we analysed the frequency of pathogenic and likely pathogenic variants, GFAP variants, within the UK population and identified clinical and radiological phenotypes linked to these variants. ⋯ Pathogenic and likely pathogenic GFAP variants are more prevalent in the general population than previously expected and are associated with clinical and radiological characteristics of Alexander disease. This study indicates that Alexander disease may be under-reported, misdiagnosed, or exhibit reduced penetrance.