Acta neurologica Belgica最新文献

Background: Meningioma, a tumor arising from the meninges of the central nervous system, is generally considered benign. Familial meningiomas are extremely rare, and the genetic basis of this condition remains largely elusive, especially in under-represented populations. This study investigates a family from Kashan, Isfahan province, Iran-an under-explored region in genetic research-with the goal of identifying novel germline variants contributing to meningioma development.

Methods: Whole Exome Sequencing (WES) was performed on a family with multiple meningioma cases (n = 3). Bioinformatic analyses identified candidate variants, which were further validated in additional family members and a cohort of 23 idiopathic, sporadic meningioma patients.

Results: A novel heterozygous missense mutation in the IQCA1 gene (NM_001270584: c.C787T; p.R263W) was found to segregate with the disease, supporting an autosomal dominant inheritance pattern. In silico analysis suggests that this mutation may disrupt IQCA1's ATP hydrolysis activity, potentially contributing to tumorigenesis. This is the first report linking IQCA1 to familial meningioma, providing new insights into its pathogenesis.

Conclusion: Our findings reveal a novel IQCA1 p.R263W mutation in a familial meningioma case, with implications for genetic counseling and surveillance in at-risk populations. This study highlights the importance of studying under-represented populations and contributes new insights into meningioma genetics and oncogenesis.

Background: In multiple sclerosis, lower urinary tract symptoms are frequently observed depending on the site of involvement. A comprehensive assessment of these symptoms is crucial for their effective management.

Objective: This research was designed to evaluate the validity and reliability of the Turkish adaptation of the Core Lower Urinary Tract Symptom Scale (CLSS) in patients with multiple sclerosis (PwMS).

Methods: 71 PwMS who had an Expanded Disability Status Scale score of 6.5 or below was included. Data collection involved demographic information as well as responses to the CLSS, Overactive Bladder Questionnaire, Interstitial Cystitis Symptom Index, Interstitial Cystitis Problem Index, and International Prostate Symptom Score. To evaluate test-retest reliability, the CLSS was administered again under identical conditions after a 7-day interval.

Results: The internal consistency of the questionnaire was assessed, resulting in a Cronbach's alpha coefficient of 0.79. Test-retest reliability for the CLSS sub-items ranged from 0.593 to 0.950. No statistically significant differences were found between the sub-items scores of the test and retest administrations. (p > 0.05). Moreover, the subscales showed significant correlations with the other questionnaires, with correlation coefficients varying between 0.109 and 0.770. Straining, feeling incomplete emptying, and pain in the bladder sub-items did not show a significant correlation with the corresponding sub-items of other questionnaires (r = 0.109, 0.270, and 0.195, respectively).

Conclusion: The Turkish adaptation of the CLSS questionnaire has been proven to be a reliable and valid instrument for evaluating lower urinary tract symptoms in PwMS.

Clinicaltrials: Gov Number: NCT06599866.

Background: Multiple sclerosis (MS) is a chronic autoimmune disease causing sensory and motor impairments due to central nervous system demyelination. Sensory feedback, essential for balance and gait, is often disrupted in people with MS (PwMS). However, its relationship with fatigue, physical activity, cognitive function, and body awareness remains unclear.

Aim: To investigate the relationship between plantar sensation, knee position sense, and clinical factors in PwMS compared to healthy controls (HC).

Methods: Thirty-three PwMS and 11 HC participated in this study. Foot sensations including light touch threshold, two-point discrimination, vibration duration, and knee position sense were assessed. In addition, physical activity level, cognitive function, body awareness, and fatigue were assessed as clinical factors.

Results: No significant differences were found between PwMS and HC in most sensory measures, except for body awareness, which was higher in HC (p:0.029). In PwMS, light touch thresholds correlated with age (r = 0.454, p = 0.008), vibration duration with walking and physical activity levels (r = 0.392-0.396, p < 0.05), two-point discrimination with EDSS score (r = 0.474, p = 0.005), knee position sense with EDSS (r = 0.385, p = 0.027) and cognitive function (r = 0.382, p = 0.028). In HC, vibration duration correlated negatively with age (r=-0.834, p:0.001), and knee position sense correlated with body mass index (r = 0.764, p:0.006) and cognitive function (r = 0.609-0.736, p < 0.05).

Conclusion: These findings highlight the relationship between sensory function and clinical factors in PwMS, emphasizing the importance of age, disability level, physical activity, and cognitive function in preserving the sensory functions of the lower extremity.

Trial registration: NCT04548297.

Background: Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disorder causing progressive motor function loss, respiratory and swallowing impairments, and significant limitations in activities of daily living (ADLs) and social participation. While gene therapies have enhanced life expectancy, functional management remains crucial. Despite the International Classification of Functioning Disability and Health for Children and Youth (ICF-CY) being a valuable framework for patient-centered care, its integration in setting multidisciplinary rehabilitation goals for SMA patients is underexplored.

Objective: This study aimed to assess the use of the ICF-CY framework in developing multidisciplinary intervention goals for SMA patients.

Methods: A cross-sectional study involving 6 SMA patients was conducted at a pediatric neurorehabilitation hospital. Data were collected using a standardized ICF-CY-based case record form and analysed to identify patterns of impairment, activity limitations, and environmental factors.

Results: Results demonstrated the multifaceted nature of SMA, with significant impairments in motor function, respiratory function, and swallowing, as well as limitations in activities of daily living and social participation. Environmental factors, particularly social support and accessibility, emerged as crucial determinants of overall well-being.

Conclusions: The study underscores the importance of a multidisciplinary approach and the use of ICF-CY framework for developing comprehensive and patient-centered care plans for SMA patients.

Background: Medication Overuse Headache (MOH) occurrence during migraine preventive therapy is poorly known. The present study aims at identifying the rate and factors influencing MOH development in patients with Chronic Migraine (CM).

Methods: Patients with a diagnosis of CM without MOH were consecutively recruited and followed at least three times for 1 year under preventive therapy. The number of headache days and the use of acute medication were recorded; the occurrence of MOH was considered as the main event. Kaplan-Meier curves were used to determine the time of the event. After the third follow-up patients were censored. Proportional hazards Cox regression was used to identify predictors of MOH among demographic variables (e,g. age), main comorbidities (e.g. sleep disorders, epilepsy, thyroid dysfunctions), migraine features (e.g. aura, number of previous preventive therapies, headache days and number of medications).

Results: We recruited 260 first-visit patients with CM. 46 patients (17.70%) developed a new onset of MOH over 1 year, with 35 at the first follow-up. No difference in MOH occurrence was found among different pharmacological groups (Chi-square = 2.99, p = 0.70). About 1/3 of non-responders developed MOH. Monthly headache days, number of acute medications, thyroid dysfunction, epilepsy, and MIDAS score were associated with MOH (Chi-square = 14.08; p = 0.01). Headache days (Wald test: 6.0; p = 0.014) and MIDAS score (Wald test: 4.07, p = 0.04) were the only stand-alone significant factors.

Conclusions: The rate of new occurrence of MOH in patients without a previous history is 18%. Monthly number of headache days and MIDAS score are the most important predictors.

Background: Systematic review explores the scientific evidence for the effectiveness of exercise interventions for lumbar disc herniation (LDH). LBP is a major cause of pain and disability worldwide and imposes huge costs on health systems, patients and society, with exercise being an important conservative treatment modality.

Objectives: The aim of this review was to assess the effectiveness of different exercise treatments for LDH.

Methods: Databases (MEDLINE, Pubmed, Cochrane, Scopus, Web of Science(WoS), ScienceDirect) were systematically searched for full-text articles published from 2018 to 23. Two researchers were involved in the research process. Studies evaluating pain, functional disability, quality of life, and transversus abdominis activation capacity in patients with LDH were included. Only studies published in English were considered. Randomized controlled trials (RCTs) with full-text availability, involving patients diagnosed with LDH who had not undergone surgery and were able to exercise, were included. The PEDro scale was used to assess the quality of evidence. According to the guidelines, the PEDro evaluation was carried out by the authors.

Results: Twelve randomized controlled trials (RCTs) were included (PubMed: 8, ScienceDirect: 3, WoS: 1), involving 880 participants and comparing exercise with other approaches. The articles examined core stabilization exercises (CSE), motor control exercises (MCE), clinical Pilates, yoga, and various other types of exercise. Pain, functional disability, quality of life (QoL), and transversus abdominis (TrA) activation capacity were evaluated in patients with LDH. Increased pain, greater disability, decreased QoL, and reduced TrA activation capacity were reported in LDH. The latest search was conducted on November 20, 2023. This systematic review was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines.

Conclusions: Quick Response (QR) code home-based exercise intervention and neurodynamic mobilisation and motor control exercises, scored higher than the other trials in terms of methodological quality and quality of evidence.