Journal of the Neurological Sciences最新文献

Background: Craniocervical junction dural arteriovenous fistulas (CCJ-DAVFs) are rare and complex vascular malformations that are challenging to diagnose and treat. This study aims to compare surgical and endovascular treatments for CCJ-DAVFs through a systematic review and meta-analysis.

Methods: A systematic review and meta-analysis was conducted according to the PRISMA guidelines. PubMed, Scopus, and Web of Science databases were searched from inception to July 2024.

Results: Fifteen studies involving 266 patients were included. Of these, 143 (53.8 %) patients underwent surgical treatment alone and 123 (46.2 %) underwent endovascular treatment alone. In the surgical group, the complete obliteration rate at last follow-up was 89.8 %. Retreatment rate was 6.2 %. Periprocedural complications occurred in 21.6 % of cases. In the endovascular group, the complete occlusion rate at last follow-up was 73.6 %. Retreatment rate was 46.7 %. Periprocedural complications occurred in 18.8 % of cases. Comparative meta-analysis revealed that the rate of complete obliteration at last follow-up was significantly higher in the surgical group (OR: 0.24; CI: 0.07 to 0.89, p = 0.03). Surgical treatment had a significantly higher successful treatment rate (OR: 0.24; CI: 0.07 to 0.89, p = 0.03) and lower retreatment rate (OR: 37.13; CI: 6.31 to 218.59, p < 0.01). No significant differences were observed between the groups in terms of periprocedural complications or complete resolution of symptoms.

Conclusion: Surgical treatment for CCJ-DAVFs achieves higher rates of complete obliteration with lower retreatment rates compared to endovascular treatment. However, endovascular treatment showed a tendency towards reducing periprocedural complications while increasing the likelihood of complete resolution of symptoms. Individualized treatment plans for CCJ-DAVFs, should be considered according to their anatomical location and potential surgical accessibility. Further studies are required to confirm these findings.

Introduction: Certain types of muscular dystrophy (MD), notably facioscapulohumeral muscular dystrophy (FSHD), exhibit muscle fiber necrosis with regeneration and a nonspecific inflammatory process. Although rare, the coexistence of MDs and autoimmune myositis has been observed. We hypothesized that, in some circumstances, FSHD may predispose individuals to myositis through muscle damage-induced autoantigen overexpression, contributing to an autoimmune response.

Methods: We conducted a retrospective analysis of patient data from neuromuscular disease centers in France and Italy between September 2012 and May 2024. Clinical, immunological, and myopathological features of 1750 myositis patients were comprehensively reviewed.

Results: Five patients were identified with both FSHD and IIM. Two patients were first diagnosed with FSHD and later developed IIM, while two others initially had IIM followed by an FSHD diagnosis. The fifth patient received simultaneous diagnoses of both conditions. The prevalence of FSHD in the IIM cohort was 1/350, and the prevalence of IIM in the FSHD cohort was 1/40 (p < 0.0001).

Discussion: Our study showed a high prevalence of FSHD and IIM association compared to the general population, with underlying mechanisms that remain unclear. This association might be more frequent than previously reported, indicating a need for increased clinical awareness. Understanding the interplay between FSHD and autoimmune myositis could reveal insights into the immunopathological processes of these diseases and improve diagnostic and therapeutic approaches.

Background: Motor neuron disease (MND) is a heterogeneous neurodegenerative disorder, with nearly 50 % of patients exhibiting cognitive and behavioral symptoms in addition to motor decline. Anxiety and depression, though frequently observed in this population, have been understudied in relation to motor and extra-motor profiles.

Objectives: Our study addresses this gap by validating the Hospital Anxiety and Depression Scale for Motor Neuron Disease (HADS-MND) and investigating the interplay between mood, clincial, and frontotemporal symptoms in a large sample of MND patients.

Methods: A total of 249 MND patients underwent clinical, genetic, and neuropsychological assessments. The validity, reliability, sensitivity, and specificity of the HADS-MND global score and subscores were explored. Correlation analyses and group comparisons tested the link between mood, motor and extra-motor profiles.

Results: The bidirectional structure of the HADS-MND was confirmed, but receiver operating characteristics analysis suggests caution for clinical use of the anxiety and depression subscales. The global HADS-MND score is recommended as a measure of psychological distress, with a cut-off point of 10 detecting 38 % of patients with altered scores. Moderate symptoms of anxiety and depression were present in 14 % and 11 % of cases, respectively. Depressive mood was higher in women, patients with frontotemporal symptoms, and severe motor-functional disabilities. Depressive and/or anxiety symptoms were linked to loneliness, behavioral changes, emotional dysregulation, and poor quality of life. Cognitive efficiency was not associated with mood.

Conclusion: Mood disorders appeared independent of cognitive profiles but related to behavioral changes. This is particularly relevant for clinicians discussing end-of-life decisions with patients.

While rising global rates of neurodegenerative disease encourage early diagnosis and therapeutic intervention to block clinical expression (secondary prevention), a more powerful approach is to identify and remove environmental factors that trigger long-latencybrain disease (primary prevention) by acting on a susceptible genotype or acting alone. The latter is illustrated by the post-World War II decline and disappearance of Amyotrophic Lateral Sclerosis and Parkinsonism-Dementia Complex (ALS/PDC), a prototypical often-familial neurodegenerative disease formerly present in very high incidence on the island of Guam. Lessons learned from 75 years of investigation on the etiology of ALS/PDC include: the importance of focusing field research on the disease epicenter and patients with early-onset disease; soliciting exposure history from patients, family, and community to guide multidisciplinary biomedical investigation; recognition that disease phenotype may vary with exposure history, and that familial brain disease may have a primarily environmental origin. Furthermore, removal from exposure to the environmental trigger effects primary disease prevention.

Introduction: Daytime sleepiness, reported in about 50 % of patients with Parkinson's disease (PD), is associated with high morbidity, poor quality of life and increased risk for accidents. While an association between dysautonomia and daytime sleepiness in early, de-novo PD has been reported, our understanding of the role of medications, cognitive status and co-morbidites on this relationship is inadequate.

Methods: Data were analyzed from the prospective Cincinnati Cohort Biomarkers Program. The primary outcome of interest was excessive daytime sleepiness (EDS), as measured by the Epworth Sleepiness Scale (ESS; ESS score > 10). The primary exposure variable was orthostatic hypotension (OH). Linear and logistic regression analyses followed by moderated graphical network analyses were conducted to explore the complex association between OH and ESS. Edge weight from graphical network analysis indicates the strength of the association.

Results: Data on 453 subjects with PD were analyzed. Median disease duration was 5.8 years and nearly 90 % were H&Y stage <3. OH was not associated with EDS. OH was associated with depression (edge weight, 0.22) in cognitively impaired patients but not in cognitively normal patients. In addition, depression was associated with ESS (edge weight, 0.37; moderation weight, 0.22) in cognitively impaired patients to a greater extent than in cognitively normal patients (edge weight, 0.22).

Conclusions: OH is not directly associated with daytime sleepiness in early, treated PD. However, OH seems to be associated with ESS via depression in cognitively impaired patients. This complex relationship deserves additional study.

This study examines the relationship between comorbid seizures and dementia among stroke patients using the 2017 Nationwide Inpatient Sample (NIS), the largest publicly available inpatient healthcare database in the United States. We analyzed data from 128,341 stroke patients, including those with ischemic and hemorrhagic strokes, to determine the prevalence of seizures and dementia, and the association between these conditions. Our findings reveal that 7.58 % of stroke patients experienced seizures, while 12.2 % had dementia. Logistic regression analysis demonstrated that stroke patients with seizures had significantly higher odds of also having dementia (OR: 2.08, 95 % CI: 1.95-2.21), with similar trends observed across stroke subtypes. Specifically, the association was strongest among ischemic stroke patients (OR: 2.38, 95 % CI: 2.21-2.56). These results suggest a critical link between seizures and cognitive decline in stroke survivors, underscoring the need for integrated management strategies that address both neurological and cognitive health. Future research should explore the underlying mechanisms and potential therapeutic interventions to mitigate the risk of dementia in stroke patients with seizures.

Background: Subclavian steal syndrome (SSS) is not rarely found during ultrasound examinations. Previous reports demonstrated a relation between ethnic factors and SSS. Data regarding SSS in non-Western population are still lacking. We aimed to investigate the frequency of SSS in a sample of Egyptian population.

Methods: In a single-center observational study, we conducted a retrospective analysis of successive patients with competent ultrasound examinations of the brain supplying vessels. The patients presented to our neurovascular laboratory in the context of routine clinical practice.

Results: We enrolled 514 patients in our study. SSS was detected in 9 patients (1.8 %) with a median (IQR) age of 58 (56-63) years. One patient with second-degree SSS received a subclavian stent. Among patients with SSS, 4 patients (44.4 %) had carotid atherosclerosis, 4 patients (44.4 %) had ischemic vascular events in the posterior circulation, and two (22.2 %) had hemodynamically significant carotid stenosis ≥50 %. Using a ROC curve, an interarm SBP (systolic blood pressure) difference of ≥10 mmHg had a sensitivity of 77.8 % and specificity of 66 %, whereas a difference of ≥20 mmHg was associated with a sensitivity of 55.6 % and specificity of 92.4 % for SSS (AUC 0.79, 95 % CI 0.6-0.97, p = 0.004).

Conclusions: SSS is not rare among Egyptian population and should be in mind during ultrasound examination, especially for patient with ischemic events in the posterior circulation and those with significant interarm SBP difference.