Acta neurologica Belgica最新文献

{"title":"Tremor, sensory-motor polyneuropathy and cerebral gliosis in klinefelter’s syndrome","authors":"Donato Melchionda,&nbsp;Giovanni Martire,&nbsp;Carlo Avolio","doi":"10.1007/s13760-025-02869-x","DOIUrl":"10.1007/s13760-025-02869-x","url":null,"abstract":"<div><p>Klinefelter’s syndrome (KS) represents one of the most frequent sexual chromosome abnormalities, with an extra-X chromosome added to the normal karyotype (XXY). Clinically, it is characterized by tall body habitus, infertility, gynecomastia, small penis and testes. Neurological involvement is usually present and tremor is frequently described as postural and kinetic tremor that resembles an essential tremor. Polyneuropathy is another neurological problem described in KS. It is an axonal neuropathy with the involvement of sensory-motor fibers. It may represent a complication or alternatively a coexisting morbidity. Cerebral gliosis in magnetic resonance images (MRI) was also described, with lesions in deep white matter (white matter lesions -WMLs). Sexual chromosome alterations with an increased number of chromosomes (XXXY, XXYY, etc.) more often present these MRI abnormalities. We describe three cases of KS patients carrying these alterations: tremor, sensory-motor polyneuropathy and leukoencephalopathy. These three abnormalities should be considered in all patients with KS.</p></div>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"125 5","pages":"1469 - 1473"},"PeriodicalIF":2.1,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144803248","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":"Uncovering the CLCN1 Y150* nonsense variant in myotonia congenita: genetic evidence from segregation analysis","authors":"Betül Okur Altındaş,&nbsp;Ayse Gul Zamani,&nbsp;Figen Güney,&nbsp;Mahmut Selman Yildirim","doi":"10.1007/s13760-025-02861-5","DOIUrl":"10.1007/s13760-025-02861-5","url":null,"abstract":"<div><p>Myotonia congenita is a rare genetic disorder characterized by skeletal muscle membrane hyperexcitability due to <i>CLCN1</i> mutations. It can be inherited in either an autosomal dominant (Thomsen disease) or autosomal recessive (Becker disease) manner. This study describes a homozygous null alteration and its segregation analysis, confirming its pathogenicity. A 30-year-old male, presenting with myotonia since the age of five, was referred to the Medical Genetics clinic. His parents were from the same village, and two of his siblings exhibited similar symptoms. Clinical evaluation was consistent with Becker’s myotonia. Next-generation sequencing revealed a homozygous nonsense variant in <i>CLCN1</i> (<i>NM_000083.2</i>:c.450 C &gt; A, p.Tyr150Ter [Y150*]), which was confirmed by Sanger sequencing in both the proband and his affected brother. This variant has been reported in only five patients. Given that all cases were of Turkish origin and exhibited Becker-type myotonia, our findings support a potential genotype-phenotype association and raise the possibility that this variant may be relatively more prevalent in patients from Türkiye.</p></div>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"125 5","pages":"1461 - 1464"},"PeriodicalIF":2.1,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144803249","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":"Restless legs syndrome and hashimoto's thyroiditis.","authors":"Arif Tolga Sönmez, Hüseyin Demirci","doi":"10.1007/s13760-025-02871-3","DOIUrl":"https://doi.org/10.1007/s13760-025-02871-3","url":null,"abstract":"<p><strong>Background: </strong>It has been hypothesized that an imbalance between thyroid hormones and dopaminergic activity may contribute to the development of Restless legs syndrome (RLS). This study aimed to evaluate the incidence and severity of RLS in patients with Hashimoto's thyroiditis compared to healthy controls, with a focus on the potential impact of thyroid hormone replacement therapy.</p><p><strong>Methods: </strong>A total of 120 consecutive patients, 80 with Hashimoto's thyroiditis (40 untreated, 40 under treatment) and 40 healthy controls, were included in the study. RLS symptoms were assessed based on the International Restless Legs Syndrome Study Group (IRLSSG) diagnostic criteria. Symptom severity was evaluated using the Restless Legs Syndrome Severity Rating Scale (RLS-SRS).</p><p><strong>Results: </strong>RLS symptoms and RLS-SRS scores were significantly higher in patients with Hashimoto's thyroiditis compared to healthy controls (p < 0.01). The untreated group showed a significantly higher RLS incidence and symptom severity than both the treated group and controls (p < 0.001). No significant difference was observed between the treated Hashimoto's group and the control group. Additionally, RLS severity was associated with a longer duration of Hashimoto's disease (p = 0.03).</p><p><strong>Conclusion: </strong>The results of our study suggest that RLS is more prevalent and severe in patients with untreated Hashimoto's thyroiditis. Furthermore, thyroid hormone replacement therapy may have a protective role in reducing both the incidence and severity of RLS in this population.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144803246","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":"Cervical vestibular evoked myogenic potentials are not disturbed in hemifacial spasm and blepharospasm.","authors":"Mahmut Tarı, Ceyla Ataç, Ayşın Kısabay Ak, Pınar Ortan, Figen Gökçay, Neşe Çelebisoy","doi":"10.1007/s13760-025-02868-y","DOIUrl":"https://doi.org/10.1007/s13760-025-02868-y","url":null,"abstract":"<p><strong>Introduction: </strong>Hemifacial spasm (HFS) and blepharospasm (BS) are movement disorders involving the facial muscles. HFS is linked to facial nerve, nucleus irritation and BS to basal ganglia dysfunction causing hyperexcitability of brainstem interneurons. Cervical vestibular-evoked myogenic potential (cVEMP) responses demonstrate the saccullocollic reflex. This study aimed to evaluate saccullocollic pathways using the cVEMP test in HFS and BS patients with abnormal brainstem activity.</p><p><strong>Methods: </strong>Our study was conducted between July 2022 and December 2023 at Movement Disorders Outpatient Clinic of Neurology Department, including 54 HFS and 32 BS patients and 50 healthy volunteers. Peak p13 and n23 latencies, peak-to-peak p13-n23 amplitudes, and amplitude asymmetry ratios (AAR) of the responses recorded from the sternocleidomastoid muscle ipsilateral to the stimulated ear was recorded and the results gathered from the patients were compared with the results of the healthy controls. Results of the affected and unaffected sides of the HFS patients were also compared.</p><p><strong>Results: </strong>There was no significant difference regarding age between patient and control groups. The female gender was higher in the BS group. No statistically significant differences were observed in terms of right and left p13 and n23 latencies and p13-n23 amplitude parameters in comparison of the patient groups and healthy controls. Comparison of the affected and unaffected sides of the HFS patients did not reveal a significant difference.</p><p><strong>Conclusions: </strong>This study found no evidence of saccullocollic involvement in HFS and BS patients using the cVEMP test. It is important as a guiding study for future research.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144797937","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":"Correction: Comparative assessment of endoscopic and microsurgery resection for intracranial ventricular tumors: a meta-analysis of 3059 patients","authors":"Sandra Thair Al-Aish,&nbsp;Abbas F. Abdul Hussein,&nbsp;Ahmed Sermed Al Sakini,&nbsp;Mohamed Rifai,&nbsp;Mustafa L. Alshareefi,&nbsp;Mohammad Al Diab Al Azzawi,&nbsp;Khalid Sarhan,&nbsp;Hazim Alkousheh,&nbsp;Zineddine Belabaci,&nbsp;Arwa Jader,&nbsp;Santiago Pastrana-Brandes,&nbsp;Sameh Elmorsy Hassan","doi":"10.1007/s13760-025-02848-2","DOIUrl":"10.1007/s13760-025-02848-2","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"125 5","pages":"1495 - 1496"},"PeriodicalIF":2.1,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144787982","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":"“Phenotypic and genotypic insights, counseling strategies, and follow-up in 24 individuals with filamin a deficiency: findings from a retrospective cohort study”","authors":"Ellen Rijckmans,&nbsp;Lars De Strooper,&nbsp;Kathelijn Keymolen,&nbsp;Jessica Rosenblum,&nbsp;Bart Loeys,&nbsp;Marije Meuwissen,&nbsp;Anna C. Jansen,&nbsp;Katrien Stouffs","doi":"10.1007/s13760-025-02858-0","DOIUrl":"10.1007/s13760-025-02858-0","url":null,"abstract":"<div><h3>Background</h3><p>Filamin A (FLNA) is an actin-binding protein involved in cytoskeleton organization and cell migration. Loss-of-function (LOF) variants give rise to a wide variety of symptoms with periventricular nodular heterotopia (PVNH) and epilepsy as the most common features. FLNA deficiency manifests as a multisystemic disorder with abnormalities of connective tissue and involvement of the cardiovascular, pulmonary, gastrointestinal and hematological system. Affected individuals need a multidisciplinary follow-up, but guidelines are lacking. Here, we present findings from a monocentric cross-sectional cohort study as a basis for improving clinical practices and surveillance for individuals with FLNA deficiency.</p><h3>Results</h3><p>24 index patients with FLNA deficiency were identified. In the cohort, 23 patients exhibited clinical features of PVNH, while one individual presented with congenital pulmonary airway malformation (CPAM). The incidence of clinical features such as epilepsy (84%) and cardiovascular involvement (56%) align with previously published cohorts. Systematic multidisciplinary follow-up, particularly regular cardiological screening, was lacking in a significant number of individuals. Additionally, lesser-known symptoms such as constipation and thrombocytopenia were underreported, highlighting the need for comprehensive phenotypic assessment in FLNA deficiency.</p><h3>Conclusion</h3><p>The incidence of clinical features in this tertiary cohort aligns with existing literature. The absence of uniform and multidisciplinary guidelines hampers effective surveillance and management. Implementation of regular cardiological screening and increased awareness of less overt symptoms could improve medical outcomes for individuals with pathogenic <i>FLNA</i> variants.</p></div>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"125 5","pages":"1347 - 1356"},"PeriodicalIF":2.1,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144774486","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":"Neurocognitive correlates of physical activity in multiple sclerosis: metacognition and cognitive flexibility","authors":"Emine İpek Halatcı,&nbsp;Hilal Aslan,&nbsp;Aybike Erkoç,&nbsp;Nezehat Özgül Ünlüer,&nbsp;Gönül Vural","doi":"10.1007/s13760-025-02851-7","DOIUrl":"10.1007/s13760-025-02851-7","url":null,"abstract":"<div><h3>Purpose</h3><p>Multiple sclerosis (MS) is a neurological condition that can impair both physical and cognitive impairments. The aim of this study, to compare physical activity (PA) levels, cognitive flexibility, metacognition and attention skills between individuals with MS and healthy individuals and to examine the relationship between PA and cognitive flexibility, metacognition and attention skills. The comparison of these abilities with healthy individuals enables the identification of MS-related functional deficits and supports the development of appropriate intervention programs.</p><h3>Methods</h3><p>This cross-sectional study consisted of two groups. The study group included 35 individuals with relapsing remitting type MS who were diagnosed with MS by a neurologist. The control group included 33 healthy volunteers. Both groups were evaluated in terms of demographic information, PA level (International Physical Activity Questionnaire (IPAQ)), cognitive flexibility (The Cognitive Flexibility Inventory (CFI)), metacognition (The Metacognitions-30 Scale (MCS-30)) and attention (Stroop test-TBAG Form (STT) and the Trail Making Test (TMT) status of the participants. The differences between the two groups regarding these parameters were assessed, and their relationship with PA level in individuals with MS was examined.</p><h3>Results</h3><p>The two groups were similar in terms of age, gender and body mass index (<i>p</i> &gt; 0.05). Compared to healthy controls, individuals with MS had lower IPAQ score and CFI scores (<i>p</i> &lt; 0.05) and higher scores on MCS-30 (<i>p</i> &lt; 0.05). Individuals with MS had higher STT and TMT completion times than healthy individuals in all sections (<i>p</i> &lt; 0.05). There was a low statistically significant negative correlation between the IPAQ scores of individuals with MS and the completion times of the fourth and fifth parts of the Stroop Test (<i>r</i>=-0.364, -0.402; <i>p</i> &lt; 0.05).</p><h3>Conclusion</h3><p>PA level, cognitive flexibility, metacognition and attention are negatively affected in individuals with MS. Therefore, in addition to routine assessments, it is important to perform detailed PA level and cognitive assessment in individuals with MS in order to plan rehabilitation.</p></div>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"125 5","pages":"1319 - 1325"},"PeriodicalIF":2.1,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144783203","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":"Co-occurrence of Wilson’s Disease and Spinocerebellar Ataxia Type 3 in a Chinese Patient","authors":"Lei Xu,&nbsp;Zhi-feng Hou,&nbsp;Yan-xin Wang,&nbsp;Ming-zhu Ni,&nbsp;Chuan-feng Zhang","doi":"10.1007/s13760-025-02852-6","DOIUrl":"10.1007/s13760-025-02852-6","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"125 5","pages":"1455 - 1459"},"PeriodicalIF":2.1,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144774487","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":"Navigating pediatric post-stroke epilepsy: comparative assessment of treatment strategies","authors":"Çağatay Günay,&nbsp;Semra Hız Kurul,&nbsp;Uluç Yiş,&nbsp;Adem Aydın,&nbsp;Ayşe İpek Polat","doi":"10.1007/s13760-025-02855-3","DOIUrl":"10.1007/s13760-025-02855-3","url":null,"abstract":"<div><h3>Background</h3><p>Although post-stroke epilepsy (PSE) is a prevalent complication in children, optimal management remains challenging. This study evaluated the impact of different treatment modalities and antiseizure medications (ASM) on the development and management of pediatric PSE following arterial ischemic stroke.</p><h3>Methods</h3><p>We conducted a retrospective cohort analysis over 20 years, examining pediatric patients who experienced seizures during the course of arterial ischemic stroke. Exclusions included neonatal stroke, hemorrhagic stroke, and sinovenous thrombosis. Cut-off point of seven days were accepted as early seizures and PSE. Treatments included acute stroke therapies such as intravenous tissue plasminogen activator, mechanical thrombectomy, anti-edema therapies, and antithrombotic treatments. Medications for seizure control were categorized as acute seizure management agents (benzodiazepines and phenytoin), which are not used for long-term post-stroke epilepsy control, and long-term antiseizure medications (levetiracetam and carbamazepine) for PSE management.</p><h3>Results</h3><p>Among 153 patients, 99 were male, with a median age of 23 months. PSE was diagnosed in 59.5% of the cohort. Cardiac disorders were the primary etiology (32.7%). Hyperacute treatments and anti-edema therapies showed no significant impact on PSE development. Benzodiazepines and phenytoin also did not affect PSE rates. Levetiracetam was associated with a higher PSE rate (66.7%) compared to carbamazepine (45.1%) (<i>p</i> = 0.010). Carbamazepine demonstrated superior seizure freedom at 6 and 24 months (<i>p</i> = 0.024 and <i>p</i> = 0.014, respectively). Seizure control was achieved in 19.8% of PSE patients through dose titration, with carbamazepine showing higher efficacy (<i>p</i> = 0.037). ASM discontinuation rates were higher with carbamazepine (95.7%) compared to levetiracetam (79.4%).</p><h3>Conclusion</h3><p>Acute stroke therapies, anti-edema, and antithrombotic treatments did not lower the PSE development. Benzodiazepines and phenytoin were not effective in preventing PSE. Carbamazepine may be more effective than levetiracetam in managing pediatric PSE, providing better seizure control and higher ASM discontinuation rates. Further research is needed to confirm these findings.</p></div>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"125 5","pages":"1335 - 1346"},"PeriodicalIF":2.1,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144783202","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":"Influencing factors and clinical value of anti-aquaporin-4 antibody in cerebrospinal fluid: a study of 82 patients with neuromyelitis optica spectrum disorder","authors":"Jing Peng,&nbsp;Feifei Yu,&nbsp;Xiajun Zhou,&nbsp;Yifan Wu,&nbsp;Kan Wang,&nbsp;Jie Ding,&nbsp;Nan Zhao,&nbsp;Desheng Zhu,&nbsp;Yangtai Guan,&nbsp;Chong Xie","doi":"10.1007/s13760-025-02853-5","DOIUrl":"10.1007/s13760-025-02853-5","url":null,"abstract":"<div><h3>Objective</h3><p>Serum AQP4 antibody (AQP4-IgG) is the causative antibody of neuromyelitis optica spectrum disorder (NMOSD) but AQP4-IgG in cerebrospinal fluid (CSF) has been seldom studied. We aimed to explore the clinical value and influencing factors of CSF AQP4-IgG in NMOSD.</p><h3>Methods</h3><p>In this study, we screened 137 patients with NMOSD diagnosed according to the 2015 International Consensus Diagnostic Criteria (IPND criteria). From this cohort, paired CSF and serum samples were simultaneously collected from 82 patients (including seropositive and seronegative subgroups) for antibody titer measurement. We explored the relationship between CSF AQP4-IgG and patient’s clinical features. Their demographic, clinical, laboratory data and MRI images were collected and analyzed.</p><h3>Results</h3><p>74 patients were seropositive for AQP4-IgG and 8 patients were seronegative. Among the 74 patients seropositive for AQP4-IgG, 46 were CSF-positive and 28 were CSF-negative, while none of the 8 seronegative patients were CSF-positive. CSF AQP4-IgG positive and negative patients showed significant differences in EDSS and relapse status. Out of the 82 patients, 67 patients were during relapse and only patients during relapse were included in the next analysis. Between the CSF-positive and CSF-negative patients, no significant differences were found in EDSS, relapse manifestation, CSF indicators, serum cytokine levels, lymphocyte subsets or MRI lesions. Responses to treatment during relapse and length of hospital stay showed no significant differences either. A positive correlation between the serum and CSF titers (rs: 0.64, <i>p</i> &lt; 0.001) was found. Further binary logistic regression analysis revealed that CSF AQP4-IgG positivity was associated with serum AQP4-IgG titers and EDSS scores.</p><h3>Conclusions</h3><p>CSF AQP4-IgG positivity primarily results from passive diffusion of serum antibodies across the blood-brain barrier, which is different from the CNS-restricted antibody production in MOG-IgG associated disorders (MOGAD). Limited prognostic value of CSF AQP4-IgG was revealed in this study.</p></div>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"125 5","pages":"1327 - 1334"},"PeriodicalIF":2.1,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144774488","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}