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Background We report a patient with a novel c.737 C > T variant (p.Ser246Leu) of the TPM3 gene presenting with adult-onset distal myopathy. Case presentation A 35-year-old Chinese male patient presented with a history of progressive finger weakness. Physical examination revealed differential finger extension weakness, together with predominant finger abduction, elbow flexion, ankle dorsiflexion and toe extension weakness. Muscle MRI showed disproportionate fatty infiltration of the glutei, sartorius and extensor digitorum longus muscles without significant wasting. Muscle biopsy and ultrastructural examination showed a non-specific myopathic pattern without nemaline or cap inclusions. Genetic sequencing revealed a novel heterozygous p.Ser246Leu variant (c.737C>T) of the TPM3 gene which is predicted to be pathogenic. This variant is located in the area of the TPM3 gene where the protein product interacts with actin at position Asp25 of actin. Mutations of TPM3 in these loci have been shown to alter the sensitivity of thin filaments to the influx of calcium ions. Conclusion This report further expands the phenotypic spectrum of myopathies associated with TPM3 mutations, as mutations in TPM3 had not previously been reported with adult-onset distal myopathy. We also discuss the interpretation of variants of unknown significance in patients with TPM3 mutations and summarise the typical muscle MRI findings of patients with TPM3 mutations.

Sulcal arteries perfuse the anterior two-thirds of the spinal cord, and spinal cord infarction as a result of sulcal artery occlusion is rare. Most reported cases are associated with vertebral artery dissection, and commonly involve the cervical spinal cord. A 74-year-old man presented with sudden onset weakness and numbness after a brief bout of abdominal pain. Further investigations concluded that this was sulcal artery syndrome. We report a case of sulcal artery syndrome affecting the thoracic spinal cord presenting as Brown–Sequard syndrome. Sulcal artery syndrome usually has good prognoses, unlike anterior spinal artery infarction.

Chronic relapsing inflammatory optic neuropathy (CRION) is a recently described recurrent optic neuropathy which is steroid responsive. Several features distinguish this entity from optic neuritis associated with demyelinating disorders and connective tissue diseases. The severe degree of visual loss, persistence of pain after onset of visual loss, and recurrent episodes are unique to this disorder. We describe here a patient who presented with recurrent episodes of painful visual loss, followed by resolution of deficits, over a period of ten years. He was diagnosed as isolated optic neuritis conforming to features of CRION.

Objective To study the prevalence of and associated factors for cognitive impairment and dementia in community dwelling Chinese from Singapore. Methods This study includes Chinese subjects from the Epidemiology of Dementia in Singapore (EDIS) study, aged ≥60 years, who underwent comprehensive examinations, including cognitive screening with the locally validated Abbreviated Mental Test and Progressive Forgetfulness Questionnaire. Screen positive participants subsequently underwent extensive neuropsychological testing and cerebral MRI. Cognitive impairment no dementia (CIND) and dementia were diagnosed according to internationally accepted criteria. The prevalence of cognitive impairment and dementia were computed per 5 year age categories and gender. To examine the relationship between baseline associated factors and cognitive impairment, we used logistic regression models to compute odd ratios with 95% CI. Results 1538 Chinese subjects, aged ≥60 years, underwent cognitive screening: 171 (15.2%) were diagnosed with any cognitive impairment, of whom 84 were CIND mild, 80 CIND moderate and seven had dementia. The overall age adjusted prevalence of CIND mild was 7.2%; CIND moderate/dementia was 7.9%. The prevalence increased with age, from 5.9% in those aged 60–64 years to 31.3% in those aged 75–79 years and 44.1% in those aged ≥80 years. Multivariate analysis revealed age, diabetes and hyperlipidaemia to be independently associated with cognitive impairment. Conclusions In present study, the overall prevalence of cognitive impairment and dementia in Chinese was 15.2%, which is in the same range as the prevalence reported in Caucasian and other Asian populations.

Hypertension is the most prevalent of the modifiable risk factors for stroke. The benefits of blood pressure (BP) lowering on primary and secondary prevention of stroke are undeniable. Despite this, BP control in hypertensive individuals and patients with prior cerebrovascular events is suboptimal. Noncompliance, inappropriate antihypertensive usage and under-utilization of medications contribute significantly to inadequate BP control. Recently, elegantly designed studies that assessed the preventive role of BP lowering in patients with cerebrovascular disease have helped clarify management issues in terms of BP targets and effective antihypertensive regimens. Current evidence suggests that BP targets for primary and secondary prevention are suboptimal and need reassessment. The effect of BP modulation in acute stroke is still not completely understood. Although the thresholds for BP treatment in acute stroke have been recommended, BP targets are as yet ill-defined. The available evidence supports early lowering of blood pressure following stroke. This review discusses the impact of blood pressure on stroke incidence and outcomes, outlines the recommendations for blood pressure lowering in stroke and delineates questions that still need to be addressed.

Twitter is a free, open access social media platform that is widely used in medicine by physicians, scientists, and patients. It provides an opportunity for advocacy, education, and collaboration. However, it is likely not utilized to its full advantage by many disciplines in medicine, and pitfalls exist in its use. In particular, there has not been a review of Twitter use and its applications in the field of neurology. This review seeks to provide an understanding of the current use of Twitter in the field of neurology to assist neurologists in engaging with this potentially powerful application to support their work.

Endometrial cancer poses a significant public health challenge globally. With an increasing incidence, understanding end-of-life outcomes becomes crucial in navigating this landscape. This study aims to explore disparities in endometrial cancer death locations across demographic and geographic parameters. Using the Centre for Disease Control and Prevention - Wide-Ranging Online Data for Epidemiologic Research (CDC WONDER) database, data on endometrial cancer deaths were retrieved and analysed. Logistic and linear regression models were employed to identify predictors and trends in place of death. The study identified 90,140 endometrial cancer deaths from 1999 to 2020. Age-specific analysis revealed higher mortality rates in the 64-75 years age group. Geographically, the South reported the highest mortality rates. White individuals exhibited higher death rates across all settings. Age, race, and geographic disparities were evident in endometrial cancer death locations. Understanding end-of-life outcomes in endometrial cancer is crucial for improving patient care. Tailored interventions addressing demographic and geographic disparities are essential for ensuring equitable and dignified end-of-life care for individuals with endometrial cancer.

•The presence of mesiotemporal lobe diffusion restricted (DWI) lesions in transient global aphasia (TGA) is under-reported.•Small, focal hyperintense DWI lesions in the mesiotemporal lobe were present in approximately 1/3 of individuals with TGA.•Use of high strength scanners and thin slice imaging may lead to increase in detection of DWI lesions in TGA.•Mesiotemporal DWI lesions should be searched for in patients with clinical suspicion of TGA. To determine prevalence and characteristics of mesiotemporal diffusion weighted imaging (DWI) lesions in transient global amnesia (TGA), and to determine prevalence of “missed” DWI lesions on routine radiological reporting. This is a retrospective study of patients with TGA admitted to a tertiary care hospital over ten years. Patients with TGA, who underwent magnetic resonance imaging (MRI) of the brain within one week of index event, were included in this study. MRI’s were reviewed by two independent raters. Clinical data and other investigations were collated. Of the 55 patients of TGA, 19 (35 %) had hyperintense DWI lesions with concordant apparent diffusion coefficient (ADC) hypointensity in the mesiotemporal region. Fifteen out of 19 (79 %) had unilateral lesions (6 left, 9 right). Twelve out of 19 DWI lesions were reported at the time of index scan. The false negative reporting rate was 36.8 %. DWI slice thickness (5 mm versus 3 mm), MRI machine strength (1.5 versus 3 T) and time interval from symptom onset to MRI brain (>24 h versus ≤ 24 h) were not significantly different between patients with or without DWI lesions and as well between patients with DWI lesions missed and initially reported at the time of index scan. Punctuate DWI mesiotemporal lesions in TGA are prone to under-reporting. These lesions need to be categorically searched for at the time of reporting MRI Brain.

Worldwide, non-contrast computed tomography (NCCT) has been the imaging modality of choice in acute stroke, primarily due to its accessibility and short acquisition time. However, magnetic resonance imaging (MRI), specifically diffusion-weighted imaging (DWI), is much more sensitive to hyperacute ischemic changes. Multimodal MRI studies provide significantly more pathophysiological and prognostic information than NCCT. Finally, perfusion-weighted MRI permits visualization of the extent of the ischemic penumbra in individual patients. MRI-based penumbral imaging appears to be the most promising approach to expanding the thrombolysis population base to include patients with prolonged symptoms. This article describes advances in MRI techniques and their application to acute stroke management.

Neuroimaging is fundamental to stroke diagnosis and management. Non-contrast computed tomography (NCCT) has been the primary imaging modality utilized for this purpose for almost four decades. Although NCCT does permit identification of intracranial hemorrhage and parenchymal ischemic changes, insights into blood vessel patency and cerebral perfusion are limited. Advances in reperfusion strategies have made identification of potentially salvageable brain tissue a more practical concern. Advances in CT technology now permit identification of acute and chronic arterial lesions, as well as cerebral blood flow deficits. This review outlines principles of advanced CT image acquisition and its utility in acute stroke management.