INTRODUCTION:Malnutrition is a common and clinically significant problem among individuals with Parkinson's disease (PD), adversely affecting overall health and quality of life. The Mini Nutritional Assessment-Short Form (MNA-SF) is widely used for malnutrition screening in diverse clinical populations; however, its diagnostic utility in PD has not been fully established. This study aimed to evaluate the validity of the MNA-SF in detecting malnutrition among patients with PD. METHODS:This prospective cross-sectional study included 42 patients with PD. Demographic characteristics, disease-related variables, and nutritional parameters were recorded. Malnutrition was diagnosed using clinical criteria based on ESPEN guidelines. All participants underwent the MNA-SF, and score distributions were compared with clinical malnutrition status. Diagnostic accuracy was assessed using ROC curve analysis. RESULTS:Of the 42 participants, 22 (52.4%) were women, with a mean age of 59.33 ± 10.19 years. Clinically, 23.8% were diagnosed with malnutrition. According to the MNA-SF classification, 21.4% were malnourished, 38.1% were at risk, and 40.5% had a normal nutritional status. Malnourished patients had significantly lower MNA-SF scores than those without malnutrition (p = 0.004). The MNA-SF demonstrated good diagnostic performance, with an AUC of 0.80 (95% CI: 62.1-97.9; p = 0.005). Using a cut-off score of < 8.5, the sensitivity was 70.0%, and the specificity was 87.5%. CONCLUSIONS:The MNA-SF may be a useful screening tool for identifying malnutrition in patients with PD. However, the proposed < 8.5 cut-off should be considered exploratory and requires external validation in larger and more diverse PD populations before broader clinical application.
Background:Large language model-based chatbots are increasingly used by the public to access medical information. Although these tools can improve access and convenience, their quality, clarity, and transparency remain uncertain for rare and diagnostically complex neurological conditions, such as myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). Objective:This study aimed to evaluate the scientific quality, understandability, citation transparency, and readability of responses generated by widely used artificial intelligence chatbot platforms to a standardized, patient-centered query on MOGAD. Methods:We conducted a cross-sectional content analysis using the query, "What is MOGAD, and how is MOGAD treated?" Ten widely accessible chatbot platforms were queried once on the same day in new sessions. Responses were anonymized and independently evaluated by 7 blinded neurologists using DISCERN (treatment-related scientific quality), Patient Education Materials Assessment Tool for Printable Materials (PEMAT-P), and the Web Resource Rating (WRR; citation transparency). Readability was assessed using the Flesch-Kincaid Grade Level (FKGL) and Coleman-Liau Index, and word count was recorded. Platforms were compared by functional orientation and the access model. Mann-Whitney U and Kruskal-Wallis tests with Dunn post hoc tests were used. Interrater reliability was assessed using intraclass correlation coefficients. Results:Significant differences were observed across platforms for DISCERN, PEMAT-P, and WRR scores (all P<.001). Search-focused platforms achieved higher understandability than conversation-focused platforms (median PEMAT-P 52.6, IQR 47.4-54 vs 46.7, IQR 42-47.3; P=.04), whereas conversation-focused platforms had higher WRR scores (median 26.8, IQR 19.6-26.8 vs 19.6, IQR 19.6-25.9; P=.001). DISCERN scores did not differ significantly by functional orientation (P=.11). Paid-access platforms outperformed free-access platforms in DISCERN (median 42, IQR 36-45 vs 33, IQR 23.8-41.3; P<.001), PEMAT-P (median 52.6, IQR 46-54 vs 46, IQR 26.3-47.4; P=.002), and WRR (median 26.8, IQR 23.2-26.8 vs 10.7, IQR 3.57-19.6; P<.001). However, no statistically significant differences were observed between paid and free platforms in response length (median word count 336, IQR 271-369 vs 206, IQR 116-294; P=.11) or readability metrics. FKGL scores were comparable between paid and free outputs (median 17.54, IQR 16.6-18.4 vs 17.56, IQR 16.5-17.6; P=.61), and Coleman-Liau Index values similarly showed no significant difference by access model (median 21.30, IQR 20.6-22.3 vs 21.71, IQR 20.9-22.1; P=.91). Readability remained limited: all outputs exceeded recommended public health readability thresholds (FKGL≥8). High interrater agreement was observed (intraclass correlation coefficient=0.902 for DISCERN, 0.887 for WRR, and 0.838 for PEMAT-P). Conclusions:Artificial intelligence chatbot responses to a patient-centered MOGAD query varied substantially in scientific quality, understandability, transparency, and readability. Search-focused systems were more understandable, whereas conversation-focused systems showed greater citation transparency. Paid-access platforms achieved higher quality and transparency scores, without differences in readability or response length. All outputs exceeded recommended public health readability thresholds. These findings highlight the need for context-sensitive evaluation of chatbot outputs in rare and clinically complex conditions such as MOGAD.
Cognitive impairment is common in multiple sclerosis (MS), and visual memory impairments are increasingly considered clinically important, yet still underappreciated.To compare cognitive performance assessed by the Rey Complex Figure Test (RCFT) and Symbol Digit Modalities Test (SDMT) in MS patients and healthy controls, and to examine correlations between these measures and physical disability indices.A total of 177 participants were assessed using RCFT subtests and SDMT, of whom 95 had relapsing-remitting MS (RRMS) and 82 were healthy controls. Group comparisons and correlation analyses were performed.The MS patients scored significantly lower on all RCFT subtests and SDMT. Moderate correlations were found between SDMT and RCFT 0 to 2, but not RCFT 3.Both RCFT and SDMT may serve as potentially complementary measures of cognitive domains relevant to MS. Incorporating both recall and recognition-based measures, along with processing speed assessments, can provide a broader evaluation of cognitive strengths and weaknesses in MS, helping clinicians better characterize patients' profiles.
Background:Restless legs syndrome (RLS) is traditionally considered a sensorimotor disorder, but increasing evidence suggests that it may also involve brain systems related to emotional and cognitive functions. In this exploratory study, we investigated whether individuals with RLS show differences in social cognition, particularly in the ability to interpret others' emotional expressions and mental states. Objective:To investigate social cognition in individuals with RLS, particularly affective theory of mind. Methods:We compared 22 individuals with RLS and 22 healthy controls matched for age, sex, and education. Participants completed standardized tasks assessing different aspects of social cognition, including affective theory of mind, which refers to the ability to infer others' emotions. Results:We found that individuals with RLS scored lower on the task assessing affective theory of mind. No significant differences were observed in other social-cognitive measures, although the relatively modest sample size may have limited the detection of subtle differences. The group difference in affective theory of mind remained significant after accounting for depressive symptoms. Conclusion:These preliminary findings suggest that RLS may be associated with alterations in affective theory of mind independent of depressive symptoms. This pattern may reflect involvement of limbic-striatal networks. Larger studies incorporating sleep-related measures are needed to better understand social cognition in RLS.
Background: Dystonic cerebral palsy (DCP) is a complex, disabling manifestation of secondary dystonia, which significantly impacts motor function, quality of life, and well-being. Conventional pharmacologic therapies frequently do not relieve symptoms sufficiently. Deep brain stimulation (DBS) of the globus pallidus internal segment (GPi) has gained increasing attention as a neuromodulatory therapy for refractory dystonia. Still, the experience of the effect of GPi DBS treatment in adults with DCP has, until recently, been limited. Methods: We performed a retrospective, two-center case series of 11 adult patients with medically refractory DCP who underwent bilateral GPi-DBS. The clinical outcomes were evaluated based on the Burke–Fahn–Marsden Dystonia Rating Scale (BFMDRS), the Functional Independence Measure (FIM), the Gross Motor Function Classification System (GMFCS), and the Caregiver Burden Scale (CBS. The assessments were done preoperatively and at 1-year follow-up. Changes in continuous variables were analyzed using paired t-tests. Results: At the 1-year follow-up, the mean BFMDRS score improved from 69.6 ± 27.6 to 54.3 ± 36.5 (p = 0.001), indicating a significant reduction in overall dystonia severity. Functional independence also improved, demonstrated by the rise in FIM scores from 65.3 ± 33.9 to 79.2 ± 43.4 (p = 0.006). Although GMFCS levels did not change in most patients (p = 0.125), the burden on caregivers decreased significantly, with CBS scores falling from 35.7 ± 18.8 to 32.0 ± 17.1 (p = 0.015). There were no surgical complications. Conclusions: In adults, bilateral GPi-DBS is a safe and effective intervention for DCP, improving motor control and increasing functional independence while decreasing caregiver burden. These findings lend support to its role in the multidisciplinary management of DCP.
Background/Objectives: Aneurysmal subarachnoid hemorrhage (aSAH) is frequently complicated by cerebral vasospasm, a major contributor to delayed cerebral ischemia and poor neurological outcomes. Early prediction remains challenging, and there is a critical need for reliable biomarkers. MicroRNAs (miRNAs) in cerebrospinal fluid (CSF) have emerged as promising indicators of acute neuropathological changes. This study aimed to evaluate CSF miRNA expression profiles in patients with aSAH to identify early predictors of vasospasm and improve clinical risk stratification. Methods: We conducted a prospective observational study involving 48 patients (40 patients with aSAH (20 who developed vasospasm, 20 who did not) and 8 healthy controls). A panel of 20 candidate miRNAs was analyzed in CSF samples collected on days 1 and 5 post−hemorrhage using quantitative real−time PCR. Expression differences between groups were assessed, and receiver operating characteristic (ROC) curves were used to evaluate diagnostic performance. Results: Several miRNAs were differentially expressed in patients who developed vasospasm. On day 1, miR−221−3p and miR−183−5p were significantly upregulated (p = 0.014, p = 0.009), while miR−126, miR−29a, and miR−27b−3p were downregulated (p = 0.006, 0.021, 0.028) compared with controls. MiR−126 remained suppressed on day 5 (p = 0.002). These early changes showed high predictive accuracy (e.g., day 1 AUC for miR−221−3p ≈ 0.98, 95% CI 0.83–1.00). Compared with non−vasospasm patients, miR−221−3p was lower (0.12−fold), while miR−9−3p and miR−183−5p were higher (13.4−fold and 2.7−fold, respectively; all p < 0.01). MiR−24 and miR−21−5p correlated with more severe grades and poorer outcomes (p < 0.05). Conclusions: Specific CSF miRNAs—particularly miR−221−3p, miR−9−3p, and miR−183−5p—may serve as early biomarkers for vasospasm, warranting further validation in larger cohorts.
Background/Objectives: Malnutrition is a frequently observed and essential problem among patients with Parkinson's Disease (PD) that significantly affects their overall health and quality of life. The Mini Nutritional Assessment Short Form (MNA-SF) is a standard tool for screening malnutrition in diverse clinical populations. However, the suitability of MNA-SF to detect nutritional deficiencies in PD patients requires a comprehensive evaluation. In this context, we determined the usefulness of MNA-SF as a tool to identify dietary problems in patients with PD. Methods: Demographic data, disease characteristics, and nutritional characteristics of 42 patients with PD were recorded. Patients were evaluated for malnutrition using clinical scoring. In addition, MNA-SF was applied to each patient, and the results were compared with clinical scores. Results: 22 of 42 patients (or 52.4%) were female, and the mean age of the patients was 59.33±10.19 years. In clinical malnutrition diagnoses, 76.2% of the participants were not malnourished, while the rate of malnourished patients was 23.8%. According to the MNA-SF assessment, 21.4% were malnourished, 38.1% were at risk of malnutrition, and 40.5% showed normal nutrition. The patients who were malnourished had a lower MNA-SF score when compared to the patients who were not malnourished (p =.004). The area under the curve (AUC) is 80.0 percent (CI: 62.1-97.9), effectively distinguishing those malnourished and those not (P=0.005). The sensitivity and specificity were 70.0% and 87.5%, respectively, using a threshold score below 8.5 (CI: 39.7-89.2) (CI: 71.9-95.0). Conclusions: The MNA-SF is a reliable and sufficient tool for identifying malnutrition in individuals with PD. city were 70.0% and 87.5%, respectively, using a threshold score below 8.5 (CI: 39.7-89.2) (CI: 71.9-95.0). Conclusions: The MNA-SF is a reliable and sufficient tool for identifying malnutrition in individuals with PD.
OBJECTIVE:Postural deformities such as camptocormia affect over 30% of Parkinson's disease patients, impairing balance, gait, and quality of life. This study evaluated a vibratory-feedback posture brace versus conventional exercises in Parkinson's disease. DESIGN:In this pilot randomized controlled trial, 28 individuals with idiopathic Parkinson's disease (Hoehn & Yahr stage 2-3) and stooped posture were assigned to either a 6-wk daily exercise program (posture exercise group, n = 13) or a wearable brace (sensor brace group, n = 15), worn around 8 hrs/d. The brace delivered vibration cues when forward flexion exceeded a set threshold. Primary outcomes were craniovertebral and cranio-horizontal angle (APECS); the secondary was static balance (Tetrax fall index). Group × time effects were analyzed using repeated-measures analysis of variance (α = 0.05). RESULTS:Groups were similar at baseline. At 2 wks, only the sensor brace group showed significant improvement in cranio-horizontal angle (~ -2°, P = 0.046), indicating a short-term, localized benefit. By 6 wks, both groups had modest head posture improvements. Trunk sagittal angle and fall index showed no significant change. CONCLUSIONS:The sensor-based brace improved upper cervical posture in the short-term and was well tolerated. Longer training or combined strategies may yield greater functional gains.
BACKGROUND:Understanding real-world experiences is crucial in determining the potential gaps in patient-centered healthcare in dystonia. We explored the challenges of people with dystonia (PwD) at the stages of diagnosis and botulinum neurotoxin (BoNT) treatment. METHODS:A multicenter survey was conducted face-to-face across seven university hospitals in Turkey. PwD receiving BoNT treatment for at least 6 months were invited. Data on demographics, diagnostic journeys, and treatment experiences were collected and analyzed using descriptive statistics and regression models. RESULTS:A total of 789 PwD participated, reporting significant burdens during both diagnostic and treatment stages. Diagnosis was delayed by approximately 1 year, with 15% receiving incorrect initial diagnoses. Additionally, 30.7% of PwD traveled to another city, and 42.6% applied to private clinics for diagnosis, leading to a substantial logistic and financial burden. The treatment stage revealed that a quarter of PwD had to travel significant distances every 3 months, or applied to a private clinic to receive BoNT injections, creating considerable cost and effort. In addition, PwD with oromandibular dystonia were three times and task-specific dystonia were around nine times less likely to be satisfied with BoNT treatment compared to facial dystonia. Alternative treatment was reported in 11%, with no substantial benefit. CONCLUSIONS:The findings highlight critical unmet needs in the diagnostic and treatment processes for PwD. These include improvement in diagnostic accuracy, reduced travel and financial burdens, and enhanced treatment satisfaction. An action plan emphasizing resource utilization policies and educational activities for healthcare providers is essential to address these challenges.
Background/objectivesThis study aimed to evaluate compliance and accuracy in comparison with traditional PD diaries for tracking motor symptoms using a new smartphone application (MyParkinson’s) and paper diary strategies. Parkinson’s disease (PD) is a neurodegenerative disorder with progressive motor symptoms. Treatment becomes more challenging as PD progresses, motor complications in the form of wearing-off phenomenon and levodopa-induced dyskinesia develop. Traditional paper diaries and clinical scales used to evaluate patients may be inadequate in assessing whether the patient is “on” or “off,” resulting in less-than-ideal treatment changes.MethodsA randomized crossover design was utilized to examine 22 advanced PD patients who underwent symptomatic assessment with both diaries during two separate 24-h periods seven days apart. The compliance and accuracy of data were assessed by comparing diary entries with the clinical examination notes and WhatsApp queries. LaOerly, patients’ diary preferences were also evaluated.ResultsThe digital diary had significantly beOer compliance and accuracy than the paper diaries, with substantial/almost perfect levels of agreement (κ = 0.615 to 0.818) between logged symptoms and clinical examination notes. 65% of patients preferred the digital diary for follow-ups, and there was no significant difference in ease of use compared to paper diaries.ConclusionDigital diaries are helpful in the clinical management of PD patients as they minimize recall bias and reduce data errors in appropriately selected patients. Our study suggests a broader adoption of digital health technologies in PD management. Still, additional research is necessary to improve the tools and assess long-term patient outcomes.
In the elderly population, Parkinson’s Disease (PD) is the second most common neurodegenerative disorder and is associated with morphological changes in the basal ganglia, especially the substantia nigra (SN). This study aimed to evaluate the volume and signal intensity (SI) of SN using Magnetic Resonance Imaging (MRI) to detect structural changes and investigate the relationship between the onset side and disease severity of PD. Clinical features and imaging data of 58 patients with PD were retrospectively analyzed from their medical records. Axial T2-weighted fluid-attenuated inversion recovery (FLAIR) sequences of 3 Tesla (T) MRIs were used for the measurements. The right and left SN volumes and SI measurements were calculated in duplicate by 2 blinded and qualified neuroradiologists. The side of disease onset, disease duration, levodopa equivalent daily dose, Movement Disorder Society-sponsored Unified Parkinson Disease Rating Scale (MDS-UPDRS III) motor score, and modified Hoehn and Yahr (H&Y) scale scores were recorded and compared with SN volume and SI measurements. No statistically significant difference was found between the disease onset side and contralateral SN volume or SI measurements (P > .05). Despite high inter- and intra-rater reliability rates, there was no significant difference in the volume and SI of the contralateral SN according to H&Y stages (P > .05). Furthermore, SN volume and SI measurements were not significantly correlated with disease duration and MDS-UPDRS III motor score (P > .05). SN volume and SI values measured using axial FLAIR 3T MRI are not correlated with the side of onset or disease severity in PD. New imaging methods are required to detect preclinical or early-stage PD.
Background/Objectives: Subthalamic nucleus deep brain stimulation (STN-DBS) is a standard treatment for motor complications in Parkinson’s disease (PD). Its impact on axial symptoms is still not fully understood. This study aimed to quantitatively evaluate the effect of frequency changes within the therapeutic window on postural control performances of individuals with PD who underwent bilateral STN-DBS. Methods: Postural control was assessed using Computerized Dynamic Posturography with randomized DBS frequency parameters, low (60 Hz), high (130 Hz), and very high (180 Hz), across six sensory organization test (SOT) conditions. Results: Twenty PD participants with a mean age of 61.2 ± 10.1 years were included. There were no differences in equilibrium scores of SOT conditions between 60, 130, and 180 Hz frequencies (p > 0.05), except the SOT6 score (p = 0.003), where 60 Hz showed better equilibrium performance in SOT6, indicating an advantage in postural control when visual cues are disturbed. Discussion: Low-frequency settings (60 Hz) in STN-DBS may benefit those who rely heavily on visual cues while ineffectively using somatosensory and vestibular inputs. Conclusions: A tailored approach to the DBS frequency setting could optimize postural stability and reduce fall risk in these patients. Future research is needed to explore these mechanisms to enhance therapeutic strategies.
Parkinson's disease (PD) is a neurodegenerative condition marked by the gradual depletion of dopaminergic neurons in the substantia nigra. Despite substantial strides in comprehending potential causative mechanisms, the validation of biomarkers with unequivocal evidence for routine clinical application remains elusive. Consequently, the diagnosis heavily relies on patients' clinical assessments and medical backgrounds. The imperative need for diagnostic and prognostic biomarkers arises due to the prevailing limitations of treatments, which predominantly address symptoms without modifying the disease course. This comprehensive review aims to elucidate the existing landscape of diagnostic and prognostic biomarkers for PD, drawing insights from contemporary literature.
Results: This case series study included 20 PD participants with STN-DBS, with a mean age of 61.2±10.1 years. There were no differences in equilibrium scores of SOT conditions between 60, 130, and 180 Hz frequencies (p> 0.05), except the SOT6 score (p= 0.003), where 60 Hz showed better equilibrium performance in SOT6, indicating an advantage in postural control when visual and somatosensory cues are disturbed, and vestibular cues are not.
Objectives:Cognitive impairment is a prevalent non-motor symptom of Parkinson's disease (PD), significantly impacting patient quality of life. The Clock Drawing Test (CDT) evaluates cognitive abilities, including planning, organization, and executive functions such as attention, memory, and visuospatial skills. This study aimed to determine the sensitivity of the CDT in diagnosing cognitive impairment in PD. Methods:We reviewed the records of 44 PD patients (16 female, 28 male) diagnosed with dementia (30 patients) or mild cognitive impairment (14 patients) between 2018 and 2022. These patients were compared to 106 visitors to the neurological outpatient clinic, serving as a control group. A separate researcher assessed the patients' CDT scores, maintaining confidentiality of all other patient data except age and education level. Results:Among the 44 PD patients, two with mild cognitive impairment were rated as normal, while all PD dementia cases were identified solely through the CDT. In the healthy control group, 72 out of 106 individuals reported no cognitive complaints, whereas 34 individuals (32.1%) reported cognitive complaints as assessed by a blind investigator. The CDT demonstrated a positive predictive value of 55.3% and a negative predictive value of 97.3%. Sensitivity was calculated at 95.5%, and specificity was 67.9%. Conclusion:The findings suggest that the CDT is sensitive in detecting cognitive impairment in PD patients with cognitive deficits. While the CDT serves as an effective rapid screening tool, high scores indicate the absence of cognitive impairment, but low scores alone are insufficient for a definitive diagnosis of dementia. Comprehensive neurological evaluation and detailed cognitive assessment remain essential for confirming dementia diagnoses.
In this study, wrist rigidity, one of the motor symptoms of Parkinson's disease (PD), is tried to be evaluated numerically. Data from a smartphone's accelerometer is used to find the natural frequency of the wrist, which is then used to correlate with the patient's clinical rigidity score. Clinical trials were conducted with 11 healthy participants and 10 Parkinson's patients. Prior to the experiments, patients' wrist rigidity was assessed clinically by neurologists. Experiments were repeated for conditions where patients continued (ON) and briefly discontinued (OFF) their Parkinson medication. In addition, experiments were performed with and without the Froment Maneuver. The results show that there is a positive correlation between the proposed method and the clinical rigidity score. However, it is concluded that the experiments may be repeated with more participants to prove the validity of the method.
The aim was to evaluate if foods, against which patient has IgG antibodies, trigger tension type headache (TTH). 22 patients (8 male, 14 female; 8 chronic TTH, 14 frequent episodic TTH) were recruited. The study had four periods: cooperation, provocation, free diet month and elimination were determined. At the cooperation perido patients’ cooperation abilities were checked. All patients were screened for 271 different antibodies against foods using Imupro300. Thus a list of food sensitivity was described for each patient. In provocation period,those detected foods were added to diet. In elimination period, those foods were eliminated from the diet with false foods added. In free diet month, there were no restrictions. Patients recorded the number of the days with headache as well as headache frequency, severity and duration and analgesic intake. These headache features in cooperation, provocation and elimination periods were compared. In the elimination period there was a significant decrease in the number of days with headache, headache frequency and duration in all patients. A significant increase in these three features were observed in the provocation period. In chronic TTH patients, only the number of the days with headache significantly increased in provocation period. IgG antibodies against foods may have a role in TTH. Number of days with headache, headache frequency and duration can be decreased by eliminating related foods from the diet, and this can be a part of the treatment. IgG antibodies against foods may be one of the pathophysiological mechanisms triggering TTH.
Background: Gordon Holmes syndrome (GHS) is a rare autosomal recessive disorder characterized by hypogonadotropic hypogonadism, cognitive decline, and cerebellar ataxia. Mutations in the Ring Finger Protein 216 (RNF216) gene have been known to be associated with GHS therewithal RNF216 mutations have been detected in cases with Huntington-like disease, 4H syndrome (hypodontia, hypomyelination, ataxia and hypogonadotropic hypogonadism), and congenital hypogonadotropic hypogonadism. Case Presentation: Here we report a novel homozygous frameshift mutation in RNF216 gene c.1860_1861dupCT (p.Cys621SerfsTer56) in a patient with hypogonadotropic hypogonadism, ataxia, and cognitive decline diagnosed with GHS also co-occurrence of parkinsonism and dystonia which was not reported before. Conclusions: We report an extremely rare case of GHS. The core features of GHS are well defined, but genotype-phenotype correlations are still limited. To understand the pathophysiology of different phenotypes, the type and localization of novel mutations need to be defined, and the effect of these different variants on clinical features needs to be determined. Further studies should explain the factors of phenotypic variability present in GHS patients with RNF216 mutations.