Acta neurologica Belgica最新文献

{"title":"Characterizing and expanding the neurological clinical spectrum of PHARC syndrome: a systematic review.","authors":"Vítor Mendes Ferreira, Marta Magriço, Bruna Meira, Paulo Bugalho, Raquel Barbosa","doi":"10.1007/s13760-025-02721-2","DOIUrl":"https://doi.org/10.1007/s13760-025-02721-2","url":null,"abstract":"<p><p>PHARC syndrome is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene and is characterized by five main clinical features: polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts. This systematic review aimed to characterize the neurological features of PHARC syndrome and identify potential new clinical features. A systematic search of studies reporting cases of PHARC syndrome was conducted using PubMed/MEDLINE and NLM databases, identifying 57 unique cases. The results showed that hearing loss was the most common initial symptom, with a complete syndrome observed in only 31.6% of reported cases. The mean diagnostic delay from the appearance of the first PHARC-related symptom to diagnosis was 20.5 years. Although pyramidal signs are not classically associated with PHARC syndrome, they were a prevalent feature when assessed. Patients with pyramidal signs were more likely to exhibit an ataxic phenotype (p-value 0.018), a complete syndrome (p-value 0.092), and cerebellar atrophy on MRI (p-value 0.001), compared to those without pyramidal signs. This review further supports the highly variable phenotype of PHARC syndrome and the lack of a clear genotype-phenotype correlation. Further research is needed to clarify the relevance of these findings within the clinical spectrum of PHARC syndrome.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143595814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Associations of plasma Neurofilament light chain with sarcopenia and physical capacity in patients with Alzheimer's diseases.","authors":"Rizwan Qaisar, Asima Karim, M Shahid Iqbal, Shaea A Alkahtani, Firdos Ahmad","doi":"10.1007/s13760-025-02759-2","DOIUrl":"https://doi.org/10.1007/s13760-025-02759-2","url":null,"abstract":"<p><strong>Background: </strong>Despite the close association of Alzheimer's disease (AD) with muscle decline, the biomarkers of age-related muscle loss, termed sarcopenia, in AD remain elusive.</p><p><strong>Objectives: </strong>We investigated the plasma neurofilament light (NfL) chain levels as potential biomarkers of sarcopenia in AD patients. DESIGN SETTING, PARTICIPANTS, MEASUREMENTS: We conducted a cross-sectional, observational study on older adults, including controls and patients with AD (n = 38-44/group). We measured the frequency of sarcopenia, body composition, handgrip strength (HGS), gait speed, and short physical performance battery (SPPB) in the study participants. We also measured the plasma NfL levels as marker of neurodegeneration.</p><p><strong>Results: </strong>AD was associated with a higher frequency of sarcopenia and reduced HGS, gait speed, and SPPB scores (all p < 0.05). The higher plasma NfL levels in AD patients were correlated with lower HGS, gait speed, and SPPB scores (all p < 0.05). Plasma NfL exhibited moderate accuracy in diagnosing sarcopenia (area under the curve; AUC = 0.701, p < 0.001) and functional dependency (AUC = 0.772, p < 0.001). Among different subgroups of AD, moderate AD was associated with more advanced sarcopenia and functional dependency than early and mild AD. Patients with AD also exhibited heightened inflammation and oxidative stress.</p><p><strong>Conclusion: </strong>Altogether, plasma NfL may be a preliminary tool in diagnosing advanced sarcopenia and functional dependency in AD. The study is relevant to non-ambulant and/or comatose AD patients with sarcopenia.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143596097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Detection of NLRP3, ASC, and Caspase-1 in serum and cerebrospinal fluid of traumatic brain injury patients: implications for short-term prognosis.","authors":"Adilijiang Aihemaitiniyazi, Kuo Ma, Jinhui Xu, Hua Chen, Xianglu Liu, Jilin Li","doi":"10.1007/s13760-025-02761-8","DOIUrl":"https://doi.org/10.1007/s13760-025-02761-8","url":null,"abstract":"<p><strong>Objectives: </strong>Traumatic brain injury (TBI) is a critical public health issue with high mortality and disability rates. Current diagnostic tools lack sensitivity and specificity, under-scoring the need for novel biomarkers. This study aimed to evaluate the clinical utility of NLRP3, ASC, and Caspase-1 as biomarkers for assessing TBI severity and prognosis.</p><p><strong>Methods: </strong>A prospective cohort of 89 patients with moderate-to-severe TBI was studied. Blood and cerebrospinal fluid (CSF) samples were collected for four consecutive days post-injury. Levels of NLRP3, ASC, and Caspase-1 were measured using enzyme-linked immunosorbent as-say (ELISA). Statistical analyses, including ROC curve analysis, were conducted to assess their predictive performance.</p><p><strong>Results: </strong>NLRP3, ASC, and Caspase-1 levels in both serum and CSF were significantly elevated in TBI patients, with higher levels correlating with greater injury severity. ROC analysis revealed that CSF biomarkers, particularly NLRP3, demonstrated superior predictive value. CSF NLRP3 levels on days 1, 2, and 4 had AUC values of 0.9871, 0.9466, and 0.8967, respectively. Dynamic changes in these biomarkers over time provided insights into disease progression and prognosis. Serum markers, while less predictive than CSF, were also effective for assessing injury severity.</p><p><strong>Conclusions: </strong>NLRP3, ASC, and Caspase-1 are promising biomarkers for evaluating TBI severity and predicting outcomes. Their dynamic monitoring may improve clinical management and in-form therapeutic strategies. Future research should validate these findings in larger cohorts and explore interventions targeting these inflammatory pathways.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143603306","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cerebellar transcranial magnetic stimulation in essential tremor: a systematic review and meta-analysis of safety and efficacy.","authors":"Abdallah Abbas, Mohamed Abouzid, Haneen Sabet, Ahmed Mansour, Abdelfattah Arafa, Ahmed Elshahat, Ahmed Mostafa Amin, Mahmoud Tarek Hefnawy, Mohamed El-Moslemani, Amna Hussein, Mostafa Hossam El Din Moawad, Shereen M Olama, Ahmed Badry Shehata, Mahmoud G A Saleh, Ahmad Farag Ibrahim El-Adawy, Ahmed M Raslan, Mostafa Meshref","doi":"10.1007/s13760-025-02740-z","DOIUrl":"https://doi.org/10.1007/s13760-025-02740-z","url":null,"abstract":"<p><strong>Background: </strong>Essential tremor (ET) is a common neurological disorder that significantly impacts daily activities. This meta-analysis aims to evaluate the safety and efficacy of cerebellar repetitive Transcranial Magnetic Stimulation (rTMS) and cerebellar Theta Burst Stimulation (TBS) in treating ET.</p><p><strong>Methods: </strong>We searched through June 14, 2024, four databases (Scopus, PubMed, Web of Science, and Cochrane CENTRAL) to identify clinical trials investigating cerebellar rTMS or TBS in ET patients. Eligibility criteria included clinical trials reporting on safety and efficacy outcomes. Six reviewers screened and extracted data independently, resolving conflicts through consensus. Risk of bias was assessed. Statistical analyses involved pooling continuous outcomes using the mean difference (MD) and 95% confidence intervals (CI) with RevMan 5.3.</p><p><strong>Results: </strong>Out of 201 screened studies, nine studies were included, with a total of 261 participants (149 received rTMS, 112 were in control groups). The meta-analysis revealed no statistically significant difference between rTMS and sham groups for Fahn-Tolosa-Marin (FTM) subscores A (MD: -3.03, 95% CI: [-7.66, 1.60], P = 0.20), B (MD: -2.74, 95% CI: [-8.09, 2.61], P = 0.32), C (MD: -1.57, 95% CI: [-5.12, 1.97], P = 0.38), and FTM-Total (MD: -8.12, 95% CI: [-20.47, 4.23], P = 0.20). Sensitivity analysis confirmed these results. Adverse events were minimal: headaches (1/44 rTMS, 2/19 sham), dizziness (1/44 rTMS, 0/19 sham), and no reported seizures or syncope.</p><p><strong>Conclusion: </strong>While individual studies noted significant FTM score improvements post-rTMS treatment, the pooled analysis found no significant differences versus sham. Further research with standardized protocols and larger samples is required to optimize rTMS use for ET.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143584267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Endocrine dysfunction post-traumatic brain injury: challenges and therapeutic approaches.","authors":"Zahra Soltani, Masoud Nazari, Meisam Babaei, Habibesadat Shakeri, Sediqeh Jalali, Vahid Hajali, Zakieh Keshavarzi","doi":"10.1007/s13760-025-02755-6","DOIUrl":"https://doi.org/10.1007/s13760-025-02755-6","url":null,"abstract":"<p><p>Traumatic brain injury (TBI) is a widespread, serious public health concern with substantial lasting effects, such as impacting the endocrine system. Here, we review the complications and consequences of TBI on the hypothalamic-pituitary axis (HPA) and connected endocrine glands, which are essential for maintaining body balance. Endocrine dysfunctions caused by TBI, especially hypopituitarism, can result in hormonal imbalances that impact various physiological systems, such as growth, metabolism, reproduction, and stress responses. These dysfunctions can cause issues like adrenal insufficiency, hypothyroidism, and hypogonadism, greatly affecting the quality of life of survivors. In cases of moderate to severe TBI, up to 40% of individuals may suffer from post-TBI hypopituitarism, leading to extended morbidity. The introduced treatment methods concentrate on different therapeutic options, including hormone replacement therapies (HRTs) (corticosteroid, growth, thyroid, and sex hormones replacement therapies), emerging plant-based bioactive compounds, and other options to address particular deficiencies. Simultaneously, there is a growing interest in novel bioactive compounds derived from plants because of their neuroprotective and anti-inflammatory properties. In addition, certain populations, such as veterans and children, are more likely to develop endocrine dysfunction due to TBI. Comprehensive, cross-disciplinary care and individualized treatment plans are crucial to improve outcomes and long-term recovery for TBI patients. Further investigation is needed to enhance diagnostic instruments, explore novel therapies, and establish predictive biomarkers for early intervention in TBI-induced endocrine disorders.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143571645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bilateral carotid-cavernous fistulas following trauma: A rare case of diagnostic and management challenges.","authors":"Allahdad Khan, Nehan Zahoor, Humaira Siddique, Javed Iqbal","doi":"10.1007/s13760-025-02756-5","DOIUrl":"https://doi.org/10.1007/s13760-025-02756-5","url":null,"abstract":"<p><p>A 23-year-old male presented with a 6-month history of left eyelid swelling and a 2-week history of headaches following a road traffic accident. Examination revealed left eye proptosis (23 mm vs. 19 mm on the right, normal 16 mm), limited abduction of the right eye, incomplete closure of the right upper eyelid, and right facial nerve weakness. No relative afferent pupillary defect (RAPD) was noted. Musculoskeletal ultrasound of the left eyelid identified an elongated subcutaneous cystic lesion with intense vascularity, indicative of a vascular lesion. CT of the facial bones with 3D reconstruction revealed bilateral proptosis, dilated superior ophthalmic veins, and enlarged cavernous sinuses, consistent with bilateral carotid-cavernous fistulas (CCFs). Otomastoiditis with facial nerve canal dehiscence was also noted, suggesting facial nerve involvement. MRI brain and orbit with gadolinium contrast demonstrated multiple dilated tortuous vascular structures communicating with the cavernous sinuses, dilated bilateral superior ophthalmic veins (left > right), and left eye proptosis, consistent with high-flow fistulas. High-flow characteristics were supported by early arterial filling of the cavernous sinuses, retrograde venous drainage, and superior ophthalmic vein dilation on MR angiogram. Bilateral CCFs are rare, typically resulting from trauma, and often present with proptosis, cranial nerve deficits, and orbital symptoms. Fundus examination revealed engorged retinal veins and mild optic disc swelling in the left eye, consistent with venous stasis. Endovascular surgery is the gold standard for treatment; however, this patient was managed symptomatically with analgesics due to financial constraints. This case demonstrates the importance of imaging in diagnosis and highlights the challenges of managing CCFs in resource-limited settings.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143571631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Aseptic meningitis with multiple cranial neuropathy: a rare complication of Infliximab therapy.","authors":"Sarah Barthez, Thierry Duprez, Vincent Van Pesch, André Peeters","doi":"10.1007/s13760-025-02750-x","DOIUrl":"https://doi.org/10.1007/s13760-025-02750-x","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143565755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Editorial Expression of Concern to: The probable role of tissue plasminogen activator/neuroserpin axis in Alzheimer's disease: a new perspective.","authors":"Naif H Ali, Hayder M Al-Kuraishy, Ali I Al-Gareeb, Saud A Alnaaim, Athanasios Alexiou, Marios Papadakis, Hebatallah M Saad, Gaber El-Saber Batiha","doi":"10.1007/s13760-025-02748-5","DOIUrl":"https://doi.org/10.1007/s13760-025-02748-5","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143530912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hoffmann: the establishment of the first society for the French-speaking neurology residents in Belgium.","authors":"Vincent Leclercq, Hessameldin Iranmanesh, Manon Dumoulin, Thomas Laurent, Florence Plumacker, Alissa Silva Gomes","doi":"10.1007/s13760-025-02735-w","DOIUrl":"https://doi.org/10.1007/s13760-025-02735-w","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143530915","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Quantitative evaluation of early antifibrinolytic therapy on 90-day mortality in elderly patients with acute traumatic subdural hematoma: insights from a prospective cohort study.","authors":"Tao Liu, Minzhi Zhang, Zhihao Zhao, Biao Zhao, Yunhu Yu, Rongcai Jiang","doi":"10.1007/s13760-025-02751-w","DOIUrl":"https://doi.org/10.1007/s13760-025-02751-w","url":null,"abstract":"<p><strong>Background and objectives: </strong>Acute traumatic subdural hematomas (aTSDH) represent a frequent and critical neurosurgical emergency, associated with a significant risk of mortality. Elderly patients with symptomatic aTSDH may benefit from early antifibrinolytic therapy (EAFT). We aim to investigate whether EAFT can improve clinical outcomes in aTSDH patients and to explore the factors influencing mortality, using data from a nationwide, multicenter, prospective cohort study.</p><p><strong>Methods: </strong>Multicenter, prospective cohort study at 30 trauma centers from 2023 to 2024 enrolled 963 patients diagnosed aTSDH. After screening, 297 patients aged 60 years or older met inclusion criteria. The primary outcome was 90-day mortality. Secondary outcomes included vascular occlusion, brain rebleeding, sepsis, gastrointestinal bleeding, and renal failure.</p><p><strong>Results: </strong>A total of 297 aTSDH patients were identified, of whom 195 received EAFT, and 102 were in the control group. After propensity score matching (PSM), 80 patients in each group were compared. There were no significant differences in 90-day mortality (before PSM, P = 0.439; after PSM, P = 0.828). The difference between the two group in the incidence of brain rebleeding, sepsis, gastrointestinal bleeding, and renal failure were similar before and after PSM. The EAFT group had a significantly higher incidence of vascular occlusion compared to the control group (before PSM, P = 0.014; after PSM, P = 0.027). In multivariate logistic regression (odds ratio [95% confidence interval]), increased 90-day mortality was predicted by larger hematoma volume (2.329 [1.123-4.830], P = 0.023) and greater midline shift (2.251 [1.065-4.755], P = 0.034). Sensitivity analysis indicated that there was heterogeneity in the treatment effects between the two groups across different midline shift categories (before PSM, P = 0.012; after PSM, P = 0.043).</p><p><strong>Conclusion: </strong>EAFT may not significantly reduce mortality in elderly aTSDH patients and could potentially increase the risk of vascular occlusion. Therefore, its use in this population should be approached with caution, carefully assessing the potential risks.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143522408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}