BMJ Neurology Open最新文献

Introduction: Sural nerve biopsy is a technique used to aid in the diagnosis of peripheral neuropathy. While this is considered a comparatively straightforward neurosurgical procedure, there is a recognised diagnostic 'failure' rate of around 4%, due to mistaken sectioning of the anatomically close and similar macroscopically appearing lesser saphenous vein.

Case report: We report a case of suspected peripheral neuropathy, in which ultra-fast real-time digital confocal microscopy was used intraoperatively to rapidly confirm a successful sural nerve biopsy.

Literature review: We conduct a literature review to determine current practice for the intraoperative confirmation of successful sural nerve biopsy.

Discussion: Real-time confocal microscopy is used primarily for intraoperative tumour applications (in vivo margin assessment, ex vivo biopsy target confirmation). This is the first reported case of ultra-fast real-time digital confocal microscopy being used to confirm a successful sural nerve biopsy.

Background: Oral amantadine is available in three formulations with distinct pharmacokinetics: immediate-release (IR), delayed-release/extended-release (DR/ER) and immediate-release/extended-release (IR/ER). While all formulations alleviate levodopa-induced dyskinesia, only DR/ER has shown efficacy for motor fluctuations. This meta-analysis evaluates the impact of amantadine formulations on motor complications in Parkinson's disease (PD).

Methods: A systematic search of PubMed and Scopus (inception to February 2024) identified randomised controlled trials (RCTs) evaluating dyskinesia using various Dyskinesia Rating Scales (DRS) and Unified Parkinson's Disease Rating Scale (UPDRS) or Movement Disorder Society (MDS)-UPDRS part 4 subscores ((MDS-)UPDRS IV), motor fluctuations using 'OFF' time and safety through adverse events. Subgroup analysis assessed formulation-specific effects. The I² statistic determined the use of fixed-effects or random-effects models for efficacy outcomes. Dyskinesia was analysed using standardised mean difference (SMD), motor fluctuations with mean difference (MD) and adverse events with ORs via a fixed-effects Mantel-Haenszel model.

Results: Fourteen RCTs (13 articles) were included. Amantadine significantly reduced dyskinesia (DRS: SMD=-1.32, 95% CI (-1.78 to -0.86); (MDS-)UPDRS IV: SMD=-0.95, 95% CI (-1.33 to -0.58)), with similar effects across formulations. 'OFF' time decreased significantly (MD=-0.66, 95% CI (-0.93 to -0.40)), notably with IR (MD=-0.75, 95% CI (-1.41 to -0.10)) and DR/ER (MD=-0.96, 95% CI (-1.35 to -0.57)), but not IR/ER (MD=-0.23, 95% CI (-0.68 to 0.22)). Adverse events (OR=3.30, 95% CI (2.29 to 4.74)) included dry mouth, hallucinations, peripheral oedema, dizziness and constipation.

Conclusions: All amantadine formulations alleviated dyskinesia. Additionally, DR/ER improved motor fluctuations, while IR demonstrated benefits, although the evidence is limited by short study durations.

Prospero registration number: CRD42024513081.

Background: Guillain-Barré Syndrome (GBS) is a life-threatening neurological disorder with limited data from sub-Saharan Africa. This study describes the clinical features, outcomes and predictors of mortality among GBS patients at Kenyatta National Hospital in Nairobi, Kenya.

Methods: This cross-sectional study used retrospective data from patient files obtained from the Health Information Department from 2014 to 2023 on 207 GBS patients. A census of all available patient files meeting inclusion criteria was done. Demographic and clinical data were collected; descriptive and correlation analyses were performed using IBM SPSS Statistics V.25.0.

Results: The male to female ratio was 1.01:1. The median age was 21 years. A quarter of cases were in the 0-5 years age group. HIV and hypertension were the most common comorbidities, particularly in females. Clinical manifestations included hyporeflexia, hypotonia and sensory loss. Significant morbidity was observed, with 25.7% experiencing respiratory complications and 35.4% requiring intensive care. Female patients had increased mortality risk (adjusted OR (aOR)=4.03, 95% CI: 1.15 to 14.11, p=0.029). HIV-positive females had over sevenfold higher odds of death (aOR 7.21, 95% CI: 1.56 to 33.36, p=0.011), while intravenous immunoglobulin (IVIg) use reduced mortality by 75% (aOR 0.25, 95% CI: 0.08 to 0.85, p=0.026).

Conclusion: This study highlights GBS's demographic, clinical and outcome aspects in Kenya. GBS predominates in young individuals. Females experience higher comorbidity and mortality rates. Improving access to IVIg, intensive care unit and early supportive management is essential. Further research is needed to explore gender-based mortality differences and age-related morbidity variations.

Background: Sporadic behavioural variant frontotemporal dementia (bvFTD) is often misdiagnosed as late-onset primary psychiatric disorder (PPD). Previous research in small sample sizes has shown that neurofilament light (NfL) and glial fibrillary acidic protein (GFAP) are promising biomarkers to distinguish FTD from PPD. We aimed to investigate the discriminative value of NfL and GFAP in a multicentre cohort of sporadic bvFTD and late-onset PPD.

Methods: In total, n=275 sporadic bvFTD and n=82 PPD were included from our DIPPA-FTD study. Baseline serum NfL and GFAP levels were measured using Simoa. Biomarker levels were compared between groups. The effect of age and sex on NfL and GFAP was measured using linear regression models. Discriminative accuracies were assessed using logistic regression models and receiver operating characteristic curves, corrected for age and sex. Within a subset of bvFTD patients who were deceased, the prognostic value of biomarkers was assessed by correlating disease duration (age at death minus age at blood sampling) with biomarker levels.

Results: Significantly higher serum median NfL and GFAP levels were found in sporadic bvFTD (NfL 33.3 pg/mL, IQR (19.6-49.6); GFAP 124.5 pg/mL, IQR (83.5-181.6)) compared with PPD (NfL 12.2 pg/mL, IQR (9.8-17.9); GFAP 68.9 pg/mL, IQR (50.6-95.0), both p<0.001). Discriminative performance was AUC=0.872 for NfL, AUC=0.787 for GFAP and AUC=0.878 for NfL+GFAP (DeLong's p for NfL+GFAP versus NfL AUCs: p=0.286). A shorter disease duration was significantly correlated with higher NfL, but not GFAP.

Conclusion: Our study found that serum GFAP does not provide additional value as a discriminative marker compared with serum NfL alone when differentiating sporadic bvFTD from late-onset PPD.

Background and purpose: The relationship between dyslipidaemia and ischaemic stroke is well known. However, its relationship towards intracranial haemorrhage (ICH) remains controversial. Additionally, it remains uncertain whether the relationship between dyslipidaemia, deep and lobar ICH differs. The study aimed to uncover the interplay between low-density lipoprotein cholesterol (LDL-C) level, ICH pattern, severity, short-term and long-term outcomes.

Methods and results: In this retrospective observational cohort study using the Taipei Veterans General Hospital Stroke Registry, we enrolled patients who had experienced an ICH and were receiving LDL-C tests on admission. Baseline characteristics, ICH severity, discharge functional outcome and mortality were compared and analysed according to patients' LDL-C levels (LDL-C<1.423 mmol/L, 1.423 mmol/L ≤LDL-C<1.811 mmol/L, 1.811 mmol/L ≤LDL-C<2.586 mmol/L, 2.586 mmol/L ≤LDL-C<3.363 mmol/L, 3.363 mmol/L ≤LDL-C<4.144 mmol/L and LDL-C>4.144 mmol/L). Our results confirmed that LDL-C is independently correlated with more severe ICH, poorer discharge functional status and higher short-term and long-term mortality in ICH patients. However, this correlation is only significant for patients with deep ICH, not in those with lobar haemorrhage. Moreover, statin use is associated with better long-term outcome and may attenuate the effects of initial LDL-C in ICH patients.

Conclusions: In patients with ICH, particularly those with deep ICH, lower LDL-C levels are associated with more severe ICH and higher short-term and long-term mortality rates. Further randomised controlled trials are warranted to determine the optimal LDL-C levels in patients with ICH and dyslipidaemia.

Functional Neurological Disorder (FND) can present significant management challenges due to its sometimes-complex presentation and the historical stigma attached to this diagnosis. Recent advances have improved understanding and management of FND, emphasising the benefit of a multidisciplinary approach to management. The prognosis of FND varies but evidence-based treatments offer the potential of remission to many people for whom FND might otherwise cause long-term disability, and meaningful symptomatic and functional improvement for many more. Despite this, limited and inequitable access to treatment means that many people with FND in Australia continue to experience treatable disability due to the condition.Diagnosis: FND should be diagnosed based on positive signs rather than exclusion. This includes identifying inconsistencies and incongruencies in symptoms that differentiate them from other neurological conditions.Communication: The diagnosis of FND should be communicated to patients promptly and clearly upon diagnosis of the condition. Information provided should include the name of the condition, the basis on which the diagnosis has been made, key principles that can aid self-management, and shared planning of next steps in treatment or accessing treatment.Multidisciplinary Management: Across healthcare service models, treatment should involve a multidisciplinary team to address the multifaceted, and sometimes complex symptoms of FND.Role of General Practitioners (GPs): GPs are integral in the long-term management of FND, providing continuity of care, patient support and education, and facilitating access to specialist services. An informed GP can provide the patient with confidence and agency to be pro-active in their symptoms. Main RecommendationsDiagnosis: FND should be diagnosed based on positive signs rather than exclusion. This includes identifying inconsistencies and incongruencies in symptoms that differentiate them from other neurological conditions.Communication: The diagnosis of FND should be communicated to patients promptly and clearly upon diagnosis of the condition. Information provided should include the name of the condition, the basis on which the diagnosis has been made, key principles that can aid self-management, and shared planning of next steps in treatment or accessing treatment.Multidisciplinary Management: Across healthcare service models, treatment should involve a multidisciplinary team to address the multifaceted, and sometimes complex symptoms of FND.Role of General Practitioners (GPs): GPs are integral in the long-term management of FND, providing continuity of care, patient support and education, and facilitating access to specialist services. An informed GP can provide the patient with confidence and agency to be pro-active in their symptoms. Changes in Management as a result of the recommendations The recommendations advocate for a shift from a pure psychiatric framework to a multidisciplinary and pe

Background: Neurophobia, the fear of neurology, is a recognised global challenge in medical education and practice. This systematic review and meta-analysis aimed to quantify the prevalence of neurophobia among medical students, residents and non-neurologist physicians, identify contributing factors (including lack of basic science/clinical integration) and explore its implications for neurology care.

Methods: We systematically searched PubMed, Scopus and Google Scholar for studies published between 2000 and 2024 reporting on neurophobia. Two independent reviewers screened the studies, extracted data and assessed their quality using the Newcastle-Ottawa Scale. A random effects meta-analysis was performed to estimate the pooled prevalence of neurophobia. Heterogeneity and publication bias were tested statistically.

Results: Of the initial 1245 studies, 32 met the inclusion criteria. The pooled prevalence of neurophobia was 47.2% (95% CI: 39.8% to 54.6%), with significant heterogeneity (I²=98.7%, p<0.001). Subgroup analysis revealed a higher prevalence among medical students (52.3%, 95% CI: 44.1% to 60.5%) than residents and physicians (41.9%, 95% CI: 33.7% to 50.1%). Key contributing factors included the perceived complexity of neurology (OR: 3.2, 95% CI: 2.7 to 3.8) and inadequate exposure during training (OR: 2.8, 95% CI: 2.3 to 3.3). Individuals with neurophobia were less likely to consider a career in neurology (OR 0.32, 95% CI: 0.25 to 0.41).

Conclusions: Neurophobia affects a substantial proportion of medical trainees and practitioners globally, with variation across education and practice levels. Addressing contributing factors through targeted interventions may help mitigate neurophobia and improve neurological care. Further studies should focus on specific interventions.

Genetic myopathies are caused by pathogenic variants in >300 genes across the nuclear and mitochondrial genomes. Although short-read next-generation sequencing (NGS) has revolutionised the diagnosis of genetic disorders, large and/or complex genetic variants, which are over-represented in the genetic myopathies, are not well characterised using this approach. Long-read sequencing (LRS) is a newer genetic testing technology that overcomes many of the limitations of NGS. In particular, LRS provides improved detection of challenging variant types, including short tandem repeat (STR) expansions, copy number variants and structural variants, as well as improved variant phasing and concurrent assessment of epigenetic changes, including DNA methylation. The ability to concurrently detect multiple STR expansions is particularly relevant given the growing number of recently described genetic myopathies associated with STR expansions. LRS will also aid in the identification of new myopathy genes and molecular mechanisms. However, use of LRS technology is currently limited by high cost, low accessibility, the need for specialised DNA extraction procedures, limited availability of LRS bioinformatic tools and pipelines, and the relative lack of healthy control LRS variant databases. Once these barriers are addressed, the implementation of LRS into clinical diagnostic pipelines will undoubtedly streamline the diagnostic algorithm and increase the diagnostic rate for genetic myopathies. In this review, we discuss the utility and critical impact of LRS in this field.

Long-standing overt ventriculomegaly in adults (LOVA) has been posited as a form of progressive hydrocephalus, with similar clinical and radiographic features to normal pressure hydrocephalus (NPH), but which should be understood as a distinct clinical entity. We conducted a narrative review analysing the literature into LOVA as a distinct form of hydrocephalus with its own clinical and radiographic characteristics and treatment modalities. LOVA is characterised by triventriculomegaly, an Evans' index of ≥0.4, presenting with progressive symptoms of elevated intracranial pressure after an initial arrest in childhood and head circumferences≥2 SD above the mean. Endoscopic third ventriculostomy is considered the first-line treatment. Shunting is equally effective but confers a higher complication risk profile. LOVA represents a progressive form of hydrocephalus with certain clinical and radiographic features which overlap with NPH, but is a distinct entity which should be on the neurologist's differential.