Neurological Sciences最新文献

Background: Information derived from lumbar puncture (LP) remains fundamental in the diagnosis of idiopathic intracranial hypertension (IIH). However, almost all patients with IIH are obese, rendering LPs technically difficult. The number of attempts required to achieve success and the likelihood of post-LP headache due to cerebrospinal fluid (CSF) leak has not been well characterized in this specific patient population or by LP modality.

Methods: We conducted a retrospective chart review of IIH patients seen at a single neuro-ophthalmology clinic who underwent LP, either guided by conventional anatomic landmarks or via fluoroscopy. Chi-squared analysis was performed to assess differences in the likelihood of post-LP CSF leak by LP method. Unpaired t-tests were performed to assess between differences in the number of attempts required, BMI, and opening pressure.

Results: 49 patients underwent 74 LPs. 31 (42%) were performed at the bedside, while 43 (58%) were performed fluoroscopically. Incidence of post-LP CSF leak was 14% in patients who underwent fluoroscopically-guided LPs and 45% in patients receiving bedside LPs (p-value = .0029). 8 bedside LPs (26%) required multiple attempts to complete, while only 1 fluoroscopically guided procedure required more than 1 attempt (2%).

Conclusion: Fluoroscopically-guided LPs required fewer attempts and were less likely to be complicated by CSF leak compared to bedside LPs. Body mass index and opening pressure were not associated with the risk of a post-LP CSF leak. The information derived from this study may help to avoid excess time, cost, and morbidity in the evaluation of patients with suspected IIH.

Background: Botulinum toxin (BoNT) might improve spasticity-plus syndrome (SPS) in multiple sclerosis (MS) through peripheral inhibition of muscle contraction and central modulation of pain pathways, as hypothesized for migraine headaches. Hereby, we aim to explore changes in migraine headaches and SPS symptoms after BoNT treatment for MS-related spasticity.

Methods: We recruited 9 people with MS who received BoNT injection due to spasticity and with significant impact due to migraine headaches (mean age 48.6 ± 6.4 years; 55.5% females; median EDSS 6.0). At the time of BoNT injection and after 1 and 3 months, patients filled in the Migraine Disability Assessment Test (MIDAS), the short form Headache Impact Test (HIT-6), the Migraine Specific Quality of Life Questionnaire (MSQ), the Beck Depression Inventory-II (BDI-II), the Fatigue Severity Scale (FSS), and the Pittsburgh Sleep Quality Index (PSQI).

Results: On linear mixed-effect models, we observed significant improvements in MIDAS (Coeff=-2.61; 95%CI=-4.39, -0.83; p = 0.004), HIT-6 (Coeff=-1.89; 95%CI=-3.34, -4.45; p = 0.010), FSS (Coeff=-3.14; 95%CI=-5.62, -0.66; p = 0.013), and sleep efficiency (Coeff=-2.28; 95%CI=-4.17, -0.39; p = 0.018) and disturbance (Coeff=-0.18; 95%CI=-0.30, -0.06; p = 0.002), which were proportional to BoNT dosing.

Conclusion: BoNT may represent a promising treatment for the management of SPS symptoms, possibly thanks to its peripheral and central effects.

Background: Pathogenic variants in the COL4A1 gene, which encodes a key structural component of the vascular basement membrane, compromise vascular integrity and contribute to a broad spectrum of cerebrovascular disorders. COL4A1-related intracerebral hemorrhage (ICH) demonstrates a distinct bimodal age distribution, characterized by early-onset (perinatal/childhood) and late-onset (adulthood) presentations.Although early-onset phenotypes have been extensively characterized, late-onset intracerebral hemorrhage linked to COL4A1 mutations remains underrecognized, frequently obscured by coexisting vascular risk factors.

Method: We reported two probands with late-onset intracerebral hemorrhage associated with COL4A1. Structural modeling was performed to assess the potential impact of these variants on collagen stability. Additionally, we reviewed 27 previously published cases to evaluate the association between COL4A1 mutations and ICH.

Results: We identified two probands with heterozygous COL4A1 missense variants: c.2086G > A (p.Gly696Ser) and a novel c.3110C > T (p.Pro1037Leu). Notably, the patient with the Pro1037Leu variant remained asymptomatic until experiencing a hemorrhagic event.Structural modeling suggests that these variants may induce subtle conformational changes that impair collagen stability. A review of 27 published cases further supports the notion that such intrinsic structural abnormalities, in combination with vascular risk factors (e.g., arterial hypertension), may increase susceptibility to intracerebral hemorrhage.

Conclusion: The results underscore the importance of considering genetic testing in patients with unexplained or recurrent intracerebral hemorrhage, particularly those with a positive family history or syndromic features. While disease-specific therapies are currently lacking, early molecular diagnosis and rigorous control of modifiable risk factors may improve long-term outcomes and support informed genetic counseling.

A 69-year-old woman with Parkinson's disease (Hoehn and Yahr stage 1.0) developed dyspnea and fever five weeks after initiation of low-dose zonisamide. Laboratory tests revealed marked neutropenia and thrombocytopenia, and chest CT showed bilateral pleural effusion. All abnormalities resolved completely within ten days after discontinuation of zonisamide. To our knowledge, such a combination of agranulocytosis and pleural effusion associated with zonisamide has not been previously reported, and this rare adverse event warrants clinical attention.

Objective: Primary oculoleptomeningeal amyloidosis (OLMA) is a rare hereditary transthyretin (TTR) amyloidosis (ATTRv) associated with specific TTR variants. p.Arg54Gly is characterized by an ocular phenotype with vitreous opacities and chronic open-angle glaucoma.

Methods: We report for the first time the occurrence of subarachnoid hemorrhages, seizures, cardiac and skin amyloid deposits in a patient with OLMA carrying the TTR p.Arg54Gly variant.

Results: A 40-year-old man with a history of visual loss presented with altered mental status, right hemiplegia, and global aphasia, followed by a gradual recovery over 5 days. Brain MRI with gadolinium showed diffuse leptomeningeal enhancement and small convexity subarachnoid hemorrhagic foci. Optical coherence tomography showed spindle needle-shaped hyperreflective formations over the inner limiting membrane. Cardiac scintigraphy and skin biopsy stainings were positive. He had further neurological episodes despite Tafamidis treatment.

Discussion: Our case expands the phenotypic spectrum of the pathogenic p.Arg54Gly TTR gene variant, demonstrating intracranial hemorrhages, seizures with a prolonged post-ictal state, and amyloid deposits in heart and skin. OLMA may mimic various infectious, inflammatory and malignant conditions affecting the central nervous system. An accurate ophthalmological evaluation may help narrowing down broad differential diagnoses and raise the suspicion of uncommon systemic diseases.

Introduction: Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder caused by loss-of-function mutations in the VPS13A gene, encoding chorein, a protein involved in membrane homeostasis.

Case report and methods: Three clinical cases are described. The first, a 36-year-old man, presented with hyperkinetic movements, seizures, psychiatric symptoms, and caudate atrophy. Genetic testing revealed a homozygous splice-site mutation (c.9276-2 A> T) in VPS13A. The second case involved a patient with a milder phenotype but typical ChAc features, except epilepsy. A homozygous deletion which includes exons 69 and 70 was identified. This deletion is absent from control population databases and is described for the first time. Her younger brother, complaining of hyperCKemia and involuntary movements, was tested and identified as a homozygous carrier of the same deletion.

Conclusions: ChAc should be considered in case of patients featuring a plethora of diffuse symptoms showing multisystemic involvement. Comprehensive genetic testing in patients with complex neurological symptoms might improve diagnostic accuracy and enhance knowledge of genotype-phenotype correlations in ChAc.

Background: Central nervous system (CNS) granulomas present formidable diagnostic challenges in tuberculosis and neurocysticercosis-endemic regions, where empirical therapy based on imaging alone frequently results in misclassification and suboptimal outcomes.

Objective: To evaluate the diagnostic accuracy of conventional and multiparametric MRI in differentiating CNS granulomas, correlate imaging findings with histopathological diagnoses, and assess 3-6 month clinical and radiological outcomes in a prospectively enrolled cohort.

Methods: We conducted a prospective observational study (February 2016-August 2017) of 30 consecutive patients with MRI-diagnosed CNS granulomas at a tertiary referral center. Comprehensive clinical assessment, multisequence MRI including diffusion-weighted imaging (DWI), apparent diffusion coefficient (ADC) mapping, and selective MR spectroscopy were performed. Stereotactic biopsy was undertaken for lesions demonstrating treatment failure or accessible progression. Primary endpoints included imaging-histopathology concordance and clinical/radiological response at 3-6 months.

Results: The cohort comprised 22 females and 8 males (mean age 24.8 years, range 11-56). Presenting features included headache (96.7%) and seizures (86.7%). Baseline MRI demonstrated lesions < 2 cm in 86.7%, ring enhancement in 80.0%, central T2 hypointensity in 66.7%, and conglomerate morphology in 53.3%. Initial radiological assessment favored tuberculoma in 63.3% and neurocysticercosis in 20.0% of cases. Seven patients underwent stereotactic biopsy, revealing tuberculous pathology in 6 (85.7%) and neurocysticercosis in 1 (14.3%). Critically, among four patients with worsening lesions initially treated as neurocysticercosis, three (75.0%) proved tuberculous on histopathology. At 3-6 month follow-up, 76.7% demonstrated clinical improvement, while 30.0% showed radiological worsening despite appropriate therapy.

Conclusions: Conventional MRI features of CNS granulomas demonstrate substantial overlap across etiologies, with significant potential for misdiagnosis in endemic settings. Multiparametric imaging enhances diagnostic confidence but cannot eliminate misclassification. Early tissue diagnosis of treatment-resistant or progressing lesions frequently alters management and is essential for optimal patient outcomes. These findings support a combined approach incorporating advanced imaging, serial clinical assessment, and timely biopsy when clinically indicated.

Background: Early, scalable screening for cognitive impairment is needed beyond traditional paper-and-pencil tools.

Objective: To evaluate the diagnostic accuracy and usability of SPICK, a Korean-language, voice-based cognitive screener.

Methods: In a prospective multicenter validation study (ITT N = 399), the reference diagnosis cognitively impaired (mild cognitive impairment [MCI] or Alzheimer's dementia [AD]) or cognitively unimpaired (CU) was determined independently by board-certified neurologists; SPICK provided the index test result. The primary endpoint was SPICK sensitivity and specificity versus prespecified thresholds (≥ 80% and ≥ 59%). Secondary endpoints included subgroup performance (MCI vs CU; AD vs CU), accuracy, area under the receiver operating characteristic (ROC) curve [AUC], and System Usability Scale (SUS).

Results: For cognitive impairment detection, SPICK achieved sensitivity 85.71% (95% confidence interval [CI] 81.46-89.31%) and specificity 74.29% (62.44-83.99%), meeting thresholds; AUC 0.800 and accuracy 83.71%. Subgroup analyses showed MCI sensitivity 79.64% (72.73-85.47%) and specificity 74.29% (62.44-83.99%), and AD sensitivity 91.98% (86.67-95.66%) and specificity 74.29% (62.44-83.99%). Among 395 participants with usability data, mean SUS was 67.32 (SD 19.10; median 70.0).

Conclusion: SPICK demonstrated clinically meaningful accuracy with acceptable usability, supporting its potential as an automated, voice-based screening tool for diverse clinical settings.