Neurological Sciences最新文献

Background: Neurosyphilis is a well-recognized mimicker and may present with diverse movement disorders resembling neurodegenerative or autoimmune syndromes. This systematic review aims to elucidate the comprehensive clinical, laboratory, imaging, and outcome spectrum of movement disorders in neurosyphilis.

Methods: This systematic review followed PRISMA guidelines with a protocol registered in PROSPERO (CRD420251135620). PubMed, Embase, Scopus, and Google Scholar were searched. Eligible studies included case reports, case series, and observational cohorts with confirmed or probable neurosyphilis and clinically diagnosed movement disorders. Data on demographics, clinical features, cerebrospinal fluid, neuroimaging, treatment, and outcomes were extracted.

Results: We analyzed a total of 48 individual cases reported across 44 publications and two retrospective cohorts (n = 223, with 61 movement disorder patients). The mean age was 47 years (range 10-83), with 76.3% male and 76.3% human immunodeficiency virus negative. Movement disorder subtypes included ataxia (28.9%), parkinsonism (18.4%), choreiform disorders (15.8%), dyskinesias/dystonia (15.8%), and myoclonus (7.9%). The orofacial "candy sign" was noted in 7.9%. In 10 cases, complex presentations mimicked progressive supranuclear palsy, corticobasal degeneration, Creutzfeldt-Jakob disease, and autoimmune encephalitis. CSF serology was positive in 84.2% of cases. Imaging showed cerebral or cerebellar atrophy (34.2%), basal ganglia infarction (15.8%), white matter changes (15.8%), hydrocephalus (5.3%), or normal scans (18.4%). Penicillin was mainstay of therapy (57.9%). Outcomes included marked improvement in 44.7%, partial recovery in 34.2%, persistent decline in 15.8%, and death in 5.3%.

Conclusion: Neurosyphilis should be recognized as a treatable cause of secondary movement disorders. Ataxia and parkinsonism predominate, but frequent misdiagnosis delays therapy.

Background: The hepatic steatosis index (HSI) is a reliable predictor of non-alcoholic fatty liver disease (NAFLD), a condition that can increase the risk of atherosclerosis. However, limited data are available on the association between HSI and asymptomatic intracranial arterial stenosis (aICAS).

Methods: This cross-sectional study aimed to investigate the association between HSI and aICAS among Chinese rural residents. The study enrolled 1788 participants aged ≥ 40 years without a history of clinical stroke or transient ischemic attack from the Rose Asymptomatic Intracranial Artery Stenosis (RICAS) cohort. We defined aICAS as ≥ 50% stenosis in intracranial arteries confirmed through combined transcranial Doppler (TCD) ultrasound and magnetic resonance angiography (MRA). The HSI was calculated based on gender, diabetes, body mass index (BMI), and transaminases level. The multivariate logistic regression models were deployed to explore the association of HSI with aICAS.

Results: Of the 1788 participants, the participants with aICAS comparing with those without aICAS had a significantly higher HSI. Controlling for confounding factors, HSI ≥ 36 was significantly associated with aICAS (OR = 3.08; 95%CI: 1.46-6.49, P = 0.003), especially multiple aICAS (OR = 4.21; 95%CI: 1.31-13.47, P = 0.016). The prevalence of aICAS increased with the value of HSI (P for trend = 0.001). Subgroup analysis further showed the association between HSI and aICAS risk only in non-abdominally obese populations (P for interaction = 0.023).

Conclusions: HSI may serve as a practical non-invasive biomarker for aICAS risk stratification, thus facilitating early detection in community settings, particularly in non-abdominally obese populations.

Background: Hereditary spastic paraplegia (HSP) genes are emerging as new causes of neurodevelopmental disorders (NDDs). While the association of intellectual disability and autism spectrum disorder (ASD) with many complex forms of HSP is well established, little is known about a possible association with childhood-onset SPG7.

Aim: To add new data on the phenotypic spectrum and associated NDDs in childhood-onset HSP.

Results: We report three patients with biallelic variants in SPG7. Consistent with previous reports, childhood-onset SPG7 manifests as a complex HSP phenotype, with clinical features that largely overlap those of the corresponding adult-onset form. In total, 57 patients with childhood-onset SPG7 have been reported in the literature to date, of whom 17% showed NDDs: intellectual disability and psychomotor delay were the most prevalent, whereas ASD and attention deficit-hyperactivity disorder were uncommon.

Conclusion: Bi-allelic variants in SPG7 are a possible cause of neurodevelopmental disorders, therefore genetic testing in children should also consider genes typically linked to adult-onset motor disorders. The possible role of SPG7 in neural development calls for studies in in vivo models of brain development, to open the way for early diagnosis and intervention.

Background: Antisynthetase syndrome (ASS) is a rare subtype of idiopathic inflammatory myopathies that may present with muscular and/or extra-muscular features, sometimes delaying diagnosis. Dropped head syndrome (DHS) is an uncommon manifestation of axial muscle weakness and can mimic motor neuron disease or myasthenia gravis.

Case presentation: We report the case of a 64-year-old male presented with dropped head and proximal weakness. Initial electromyography (EMG) revealed fibrillation potentials, positive sharp waves during rest, and signs of reinnervation during voluntary contraction, initially raising concern for a neurogenic process. Because of increased jitter on single-fiber EMG, myasthenia gravis was considered, but pyridostigmine provided no benefit. Although creatine kinase (CK) was only mildly elevated, myositis-specific autoantibodies, inflammatory biopsy changes, and myopathic features on repeat EMG, especially in cervical paraspinals, led to a diagnosis of ASS. Chest Computed Tomography (CT) revealed bibasilar bronchiectasis and micronodules.

Conclusion: This case highlights the diagnostic challenge of distinguishing ASS from motor neuron disease or myasthenia gravis. Inflammatory myopathies should be considered in DHS, with careful selection of muscles and interpretation of EMG findings, especially when CK elevation is modest.

Neurological diseases include a large variety of conditions ranging from inflammatory, vascular and neurodegenerative disorders to epilepsy and headache. The impact of sex and gender on various aspects of these conditions (epidemiology, risk factors, pathophysiology, clinical features, treatment, and management of pregnancy and breastfeeding) is still not entirely taken into consideration, despite a rapidly increasing body of evidence. This position paper covers six neurological conditions (Alzheimer's Disease, Cerebrovascular disease, Parkinson's disease, Epilepsy, Headache disorders, Multiple Sclerosis) providing an overview of available evidence on sex and gender differences, identifying knowledge gaps and providing recommendations for clinical practice and future studies. We recommend taking into consideration modifiable sex and gender specific risk factors, the role of hormones across women's lifespan and a personalized treatment approach based on gender. We also recommend that future efforts should be devoted to increase the representation of women in clinical studies, to promote sex and gender-based guideline production and to better characterize the safety profile in pregnancy of newer drugs.

Background: Myasthenia Gravis, traditionally known as a purely motor disease, has been recently associated also with non-motor symptoms, including psychological and cognitive symptoms. However, the presence of cognitive impairment in Myasthenia Gravis remains unclear due to limited and heterogeneous findings. This systematic review and meta-analysis aims to clarify the relationship between Myasthenia Gravis and cognitive performances.

Methods: Following PRISMA guidelines, we systematically searched PubMed, Web of Science, and SCOPUS for original researches published between January 2000 and December 2024 assessing cognitive functioning in people with MG compared to healthy controls. Pooled standardized mean differences and 95% confidence intervals were calculated for each cognitive domain using random-effects meta-analysis.

Results: Six studies comprising 242 Myasthenia Gravis patients and 166 healthy controls met inclusion criteria. Compared to healthy controls, people with Myasthenia Gravis showed significantly lower performance in processing speed (Symbol Digit Modalities Test), phonemic and animal verbal fluency, visuo-spatial memory (visual reproduction), and verbal learning (California Verbal Learning Test). Heterogeneity was low to moderate across most outcomes.

Conclusions: This meta-analysis supports the presence of selective cognitive impairments in individuals with Myasthenia Gravis. These findings underscore the need for a multidimensional approach to care in Myasthenia Gravis, that includes cognitive and psychological health.

Introduction: Vagus nerve stimulation (VNS) is a therapy used for drug-resistant epilepsy, refractory status epilepticus and treatment-resistant depression. VNS can reduce seizure severity and frequency, improving quality of life. It is generally well tolerated, with rare complications, which can be early (surgical) or late (device-related or stimulation-related). Common side effects include vocal cord issues, cough, and infections. We present Horner syndrome as a rare complication of VNS caused by damage to the sympathetic innervation of the ipsilateral eye and characterized by ptosis, miosis and rarely anhidrosis.  MATERIALS AND METHODS: This was a case report and systematic review of the available literature according to PRISMA guidelines. The examined databases are Medline/PubMed, Scopus and Web of Science.  RESULTS: A fourteen-year-old girl with drug-resistant epileptic encephalopathy and lissencephaly underwent VNS. Clinical signs of Horner syndrome appeared a few hours later. Our systematic review of the literature collected only three cases of Horner syndrome following VNS surgery out of 178 patients studied (one case report and two retrospective studies included in review).  CONCLUSION: We report the fourth case in the literature, a case of permanent Horner.