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Systematic review of pharmacological treatment options for orthostatic tremor in prospective patient cohorts and randomized controlled trials.
IF 2.7 4区 医学
Neurological Sciences Pub Date : 2025-03-29 DOI: 10.1007/s10072-025-08129-3
Lena Sauthoff, Maider Iza Achutegui, Lan Ye, Clara Niesmann, Florian Wegner, Matthias Höllerhage, Martin Klietz
{"title":"Systematic review of pharmacological treatment options for orthostatic tremor in prospective patient cohorts and randomized controlled trials.","authors":"Lena Sauthoff, Maider Iza Achutegui, Lan Ye, Clara Niesmann, Florian Wegner, Matthias Höllerhage, Martin Klietz","doi":"10.1007/s10072-025-08129-3","DOIUrl":"https://doi.org/10.1007/s10072-025-08129-3","url":null,"abstract":"<p><strong>Introduction: </strong>Orthostatic tremor is an infrequent movement disorder characterized by a high-frequency tremor manifesting primarily in the standing position. This condition can lead to relevant restrictions of mobility in everyday life and adversely affect the quality of life. The etiology has not been conclusively clarified. To date, there are few therapy studies of sufficient quality.</p><p><strong>Aim: </strong>The aim of the present literature analysis is to systematically evaluate the existing evidence of pharmacological therapies for orthostatic tremor.</p><p><strong>Materials and methods: </strong>This study searched for publications via PubMed and Google Scholar using the terms \"orthostatic tremor\" AND \"therapy\" and \"shaky legs syndrome\" AND \"therapy\". The main inclusion criteria were a subject number ≥ 5, pharmacological treatment approaches and the presence of a prospective experimental design.</p><p><strong>Results: </strong>The evaluation of the results indicated the most positive evidence for therapy with gabapentin. Additionally, other drugs such as perampanel and levodopa also showed positive outcomes regarding specific endpoints. In contrast, there is a lack of evidence supporting the efficacy of levetiracetam and botulinum toxin in the context of primary orthostatic tremor.</p><p><strong>Discussion and conclusion: </strong>According to current evidence, gabapentin is the drug with the most robust data. However, further studies are needed to support the evidence for different pharmacological therapeutic approaches for orthostatic tremor. Future investigations should emphasize larger sample sizes, placebo-controlled, double-blinded methodologies and a longer follow-up to be able to make more precise recommendations with greater generalizability.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143743520","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}
引用次数: 0
State of the art in EEG signal features of mindfulness-based treatments for chronic pain.
IF 2.7 4区 医学
Neurological Sciences Pub Date : 2025-03-29 DOI: 10.1007/s10072-025-08145-3
D Duran, P Arpaia, G D'Errico, L Grazzi, P Lanteri, N Moccaldi, A Raggi, R Robbio, E Visani
{"title":"State of the art in EEG signal features of mindfulness-based treatments for chronic pain.","authors":"D Duran, P Arpaia, G D'Errico, L Grazzi, P Lanteri, N Moccaldi, A Raggi, R Robbio, E Visani","doi":"10.1007/s10072-025-08145-3","DOIUrl":"https://doi.org/10.1007/s10072-025-08145-3","url":null,"abstract":"<p><p>A systematic review of electroencephalographic (EEG) correlates of Mindfulness- based treatment for chronic pain is presented. Recent technological advances have made EEG acquisition more accessible and also reliable. EEG monitoring before, during, and after treatment might support efficacy assessment and enable real- time adaptive intervention. The preliminary research extracted 131 papers from 6 scientific search engines. The application of the exclusion criteria led to the selection of 4 papers, indicating that the topic is still unexplored and further investigations are required. The collected papers exhibited great variability making challenging the comparison, nevertheless promising EEG correlates emerged. In particular, pain-related evoked potentials correlate with Mindfulness-Based treatment. EEG source analysis revealed the prevalent involvement of regions modulating emotional responses. In addition, higher baseline theta power was associated with greater improvement in depression when Mindfulness-based treatments are administered. This last result makes EEG also suitable for evaluating which patients can benefit most from mindfulness-based treatments.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143743512","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}
引用次数: 0
Severe perampanel intoxication presenting with rapidly progressive dementia.
IF 2.7 4区 医学
Neurological Sciences Pub Date : 2025-03-29 DOI: 10.1007/s10072-025-08149-z
Takahide Wada, Yuji Saitoh, Yuri Asano, Masayuki Honda, Kazushi Takahashi
{"title":"Severe perampanel intoxication presenting with rapidly progressive dementia.","authors":"Takahide Wada, Yuji Saitoh, Yuri Asano, Masayuki Honda, Kazushi Takahashi","doi":"10.1007/s10072-025-08149-z","DOIUrl":"https://doi.org/10.1007/s10072-025-08149-z","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143743410","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}
引用次数: 0
Time-varying association between blood pressure and malignant brain edema after large hemispheric infarction: a prospective cohort study.
IF 2.7 4区 医学
Neurological Sciences Pub Date : 2025-03-29 DOI: 10.1007/s10072-025-08147-1
Xindi Song, Yanan Wang, Wen Guo, Meng Liu, Yilun Deng, Ming Liu
{"title":"Time-varying association between blood pressure and malignant brain edema after large hemispheric infarction: a prospective cohort study.","authors":"Xindi Song, Yanan Wang, Wen Guo, Meng Liu, Yilun Deng, Ming Liu","doi":"10.1007/s10072-025-08147-1","DOIUrl":"https://doi.org/10.1007/s10072-025-08147-1","url":null,"abstract":"<p><strong>Aim: </strong>To investigate the time-varying association between blood pressure (BP) and malignant brain edema (MBE) risk after large hemispheric infarction (LHI).</p><p><strong>Methods: </strong>We prospectively enrolled LHI patients (CT hypodensity > 1/3 middle cerebral artery territory within 6 h or > 1/2 within 6-48 h of onset) from registry cohort. BP was recorded hourly and analyzed for 24 h and in two 12-hour epochs after onset: 1-12 h and 13-24 h. MBE was defined as neurological deterioration symptoms with midline shift ≥ 5 mm. Generalized estimating equation (GEE) compared BP patterns by MBE occurrence. Logistic regression and restricted cubic splines (RCS) assessed dose-response associations.</p><p><strong>Results: </strong>Among 414 included LHI patients (mean age 69 ± 14y, median onset-to-admission interval 3 h [interquartile range, IQR 2-5]), 117(28.3%) developed MBE with a median post-onset interval of 29 h (IQR 15-56). No significant difference in BP level was observed during 1-12 h. Systolic BP (SBP) was significantly higher in MBE group over time during 13-24 h (GEE P = 0.027). The 24-hour mean SBP exhibited a U-shaped association with MBE risk (nonlinear test, P = 0.029), with no significance in 1-12 h and a positive correlation between mean SBP in 13-24 h and MBE risk (aOR 1.02[1.00-1.04]). A threshold effect for 24-hour mean diastolic BP (DBP) was identified (non-linear test, P = 0.039), with DBP increase above 70 mmHg associated with higher MBE risk (aOR 1.03 [1.00-1.07]). Similarly, elevated mean DBP > 75mmHg during 1-12 h was associated with higher MBE risk.</p><p><strong>Conclusion: </strong>In LHI patients, 24-hour mean SBP demonstrated a U-shaped association with MBE risk, with no significant effect during 1-12 h and a positive linear correlation during 13-24 h after onset. DBP exhibited a threshold effect, primarily influencing MBE risk during 1-12 h after onset.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143743530","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}
引用次数: 0
Patients on treatment with risdiplam in Italy: challenges in the interpretation of the real-world data.
IF 2.7 4区 医学
Neurological Sciences Pub Date : 2025-03-28 DOI: 10.1007/s10072-025-08125-7
Emilio Albamonte, Adrea Lizio, Giorgia Coratti, Lorenzo Maggi, Elena Pegoraro, Marika Pane, Sonia Messina, Riccardo Masson, Adele D'Amico, Enrico Bertini, Antonella Pini, Federica Ricci, Tiziana Mongini, Claudio Bruno, Katia Patanella, Maria Sframeli, Claudia Dosi, Silvia Bonanno, Gaia Scarpini, Noemi Brolatti, Alice Zanolini, Chiara Bravetti, Maria Carmela Pera, Eugenio Maria Mercuri, Valeria Ada Sansone
{"title":"Patients on treatment with risdiplam in Italy: challenges in the interpretation of the real-world data.","authors":"Emilio Albamonte, Adrea Lizio, Giorgia Coratti, Lorenzo Maggi, Elena Pegoraro, Marika Pane, Sonia Messina, Riccardo Masson, Adele D'Amico, Enrico Bertini, Antonella Pini, Federica Ricci, Tiziana Mongini, Claudio Bruno, Katia Patanella, Maria Sframeli, Claudia Dosi, Silvia Bonanno, Gaia Scarpini, Noemi Brolatti, Alice Zanolini, Chiara Bravetti, Maria Carmela Pera, Eugenio Maria Mercuri, Valeria Ada Sansone","doi":"10.1007/s10072-025-08125-7","DOIUrl":"https://doi.org/10.1007/s10072-025-08125-7","url":null,"abstract":"<p><strong>Aims: </strong>(i) provide a snapshot from a large cohort of Italian patients with SMA on risdiplam in the real-world setting; (ii) identify any differences in the cohorts before and after commercial drug approval considering the different eligibility access criteria (iii) describe preliminary data on adherence to treatment and reasons for shifting from nusinersen to risdiplam.</p><p><strong>Methods: </strong>Charts from patients on risdiplam were retrospectively reviewed. Results were then compared between patients accessing the drug during an initial restricted compassionate use program (cohort 1) and those after commercial approval, with no restrictions (cohort 2). Side effects and adherence were recorded for both cohorts as well as data on shifters.</p><p><strong>Results: </strong>283 patients (median age: 22 years) were included. Only a minority were walkers. Respiratory and bulbar comorbidities were more severe in cohort 1 (58% non sitters) than in cohort 2 (52% sitters). 35% and 46% of patients from cohorts 1 and 2 shifted from nusinersen to risdiplam respectively. Adherence and safety profile were good in both cohorts.</p><p><strong>Conclusions: </strong>This is the largest cohort described so far providing insights on the characteristics of patients on risdiplam in the real world. The disability level and age were very different from those that had driven efficacy results in the trials. This may at least in part produce some evidence to account for the variable results reported so far in the realworld. Importantly, the safety profile was confirmed even in these more severely disabled and older patients compared to those in the trials.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143736068","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}
引用次数: 0
Unveiling Gaps and Demographic Influences in Alzheimer's Therapy: A Data-Centric Study of FDA-Approved Late-Phase Clinical Trials.
IF 2.7 4区 医学
Neurological Sciences Pub Date : 2025-03-27 DOI: 10.1007/s10072-025-08135-5
Vaishnavi Milind Kalokhe, Simran Simran, Aftab Ahmad, Fathima Musthafa, Vishal Sachin Gangawane, Rajeev Singh Raghuvanshi, Saurabh Srivastava
{"title":"Unveiling Gaps and Demographic Influences in Alzheimer's Therapy: A Data-Centric Study of FDA-Approved Late-Phase Clinical Trials.","authors":"Vaishnavi Milind Kalokhe, Simran Simran, Aftab Ahmad, Fathima Musthafa, Vishal Sachin Gangawane, Rajeev Singh Raghuvanshi, Saurabh Srivastava","doi":"10.1007/s10072-025-08135-5","DOIUrl":"https://doi.org/10.1007/s10072-025-08135-5","url":null,"abstract":"<p><strong>Background: </strong>Alzheimer's disease is more prevalent in women than in men. In this study, the author examined the U.S. Food and Drug Administration (FDA) completed phase 4 clinical trials associated with Alzheimer's. The research aims to evaluate the women's participation-to-prevalence ratio (PPR) for Alzheimer's disease.</p><p><strong>Method: </strong>Using the FDA's publicly available clinical trial database, 45 Phase 4 Alzheimer's trials from 2003 to 2019 were assessed. Further, the total PPR and yearly PPR value are calculated by dividing the percentage of women in clinical trials by the total percentage of women affected by Alzheimer's disease. The PPR value equal to 1 showcases the balanced participation of females in the Phase 4 clinical trial and the diseased affected population.</p><p><strong>Result: </strong>Out of 45 trials, 41 were completed and four were terminated. The gender data was unavailable for three trials. In 38 clinical trials associated with Alzheimer's disease, 4502 participants were enrolled. Among 4502, 2604 (57.84%) were found to be female and 1898 (42.15%) were male. The PPR for women was 0.80, reflecting an adequate representation of women participants in late-phase clinical trials. The yearly PPR reduction has been seen in female participants.</p><p><strong>Conclusion: </strong>In the year-based PPR, the range was from 0.72-1.0. In the initial year, the range was 1, which was reduced to 0.72 in 2007. In total, 38 completed clinical trials, 18 trials used placebo treatment, and the gender ratio in placebo was adequate. More transparency is essential in gender concerning SAE in publicly available databases.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143720862","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}
引用次数: 0
CSF1R-related disorder: A clinical, imaging and genetic profile review.
IF 2.7 4区 医学
Neurological Sciences Pub Date : 2025-03-27 DOI: 10.1007/s10072-025-08146-2
Rohan Ramachandra Mahale, Hansashree Padmanabha, Pooja Mailankody
{"title":"CSF1R-related disorder: A clinical, imaging and genetic profile review.","authors":"Rohan Ramachandra Mahale, Hansashree Padmanabha, Pooja Mailankody","doi":"10.1007/s10072-025-08146-2","DOIUrl":"https://doi.org/10.1007/s10072-025-08146-2","url":null,"abstract":"<p><strong>Background: </strong>Colony-stimulating factor 1 receptor (CSF1R) -related disorder (CSF1R-RD) is a primary microgliopathy with a distinct clinical, imaging and genetic profile.</p><p><strong>Objective: </strong>Description of the clinical, imaging and genetic profile of CSF1R-RD and comparison of Indian cohort with Asian, European and American cohort.</p><p><strong>Methods: </strong>Report of 2 cases of CSF1R-RD and review of reported cases of genetically confirmed CSF1R-RD since 2012 from Indian, Asian, European and American cohorts.</p><p><strong>Results: </strong>Two patients were females with age at onset at 40 and 42 years. The duration of symptoms was 2 and 5 years. Both had spasticity, cognitive impairment and psychiatric disturbances. Brain imaging showed hyperintensities in the cerebral white mater involving deep and periventricular white mater with diffusion restriction in one patient. There was diffuse cerebral and corpus callosum atrophy. Genetics showed heterozygous missense variants in exon 18 of the CSF1R gene in both patients. The Indian cohort of 5 patients had additional symptoms of dysarthria, dysphagia, parkinsonism, tremor and gait abnormality, similar radiological features. The Asian, European and American cohort had similar clinical and radiological features. Seizures were more commonly reported in America cohort and presence of calcification was less common imaging abnormality in all cohorts. Genetic profiling showed heterozygous predominantly missense variants in the TKD in all cohorts.</p><p><strong>Conclusion: </strong>CSF1R-RD has distinct clinical profile of cognitive impairment, spasticity, psychiatric disturbances with dysarthria, dysphagia, parkinsonism, tremor, ataxia, seizures, aphasia and gait abnormality. Calcification is less common radiological abnormality with heterozygous missense variants in the TKD as the common genetic variant.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143720859","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}
引用次数: 0
Diagnosing migraine in children and adolescence using ID migraine: results of an Italian multicenter validation.
IF 2.7 4区 医学
Neurological Sciences Pub Date : 2025-03-27 DOI: 10.1007/s10072-025-08076-z
Ilaria Frattale, Vittorio Sciruicchio, Daniela D'Agnano, Vincenzo Raieli, Salvatore Lo Cascio, Giuseppe Santangelo, Edvige Correnti, Fabiana Ursitti, Giorgia Sforza, Gabriele Monte, Luigi Mazzone, Massimiliano Valeriani, Laura Papetti
{"title":"Diagnosing migraine in children and adolescence using ID migraine: results of an Italian multicenter validation.","authors":"Ilaria Frattale, Vittorio Sciruicchio, Daniela D'Agnano, Vincenzo Raieli, Salvatore Lo Cascio, Giuseppe Santangelo, Edvige Correnti, Fabiana Ursitti, Giorgia Sforza, Gabriele Monte, Luigi Mazzone, Massimiliano Valeriani, Laura Papetti","doi":"10.1007/s10072-025-08076-z","DOIUrl":"https://doi.org/10.1007/s10072-025-08076-z","url":null,"abstract":"<p><strong>Background: </strong>Since migraine is the most frequent neurological condition, an early diagnosis is important to limit the impact of the disease on the quality of life. Although migraine diagnosis is based on the International Classification of Headache Disorders 3rd edition (ICHD3) criteria, other briefer questionnaires have been developed, especially for screening purpose. While the three-item ID Migraine has proved useful for migraine diagnosis in adulthood, no validated tools are available for children and adolescents. The aim of this study is to validate ID Migraine also in pediatric patients.</p><p><strong>Results: </strong>The Italian ID Migraine for adulthood was completed by 289 pediatric patients (mean age 12.14 ± 3.15, range 6-17) who attended three third-level pediatric headache centers. Clinical and neurological examinations were performed, and the final diagnosis was reached according to the ICHD3 criteria. The migraine group consisted of 230 patients, and the control group consisted of 59 patients who received headache diagnoses different from migraine. We considered the ID migraine positive whether 2 out of 3 responses were 'yes'. ID migraine for diagnosis of pediatric migraine showed a sensitivity of 0.86 (86%), a specificity of 0.95 (95%), a positive predictive value (PPV) of 0.98 (98%) and a negative predictive value (NPV) 0.64 (64%).</p><p><strong>Conclusion: </strong>ID Migraine can be considered a valid tool for migraine diagnosis also in pediatric age, starting from the age of 6 years.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143720860","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}
引用次数: 0
Dopa responsive dystonia due to a GCH1 gene variant mimicking hereditary spastic paraparesis.
IF 2.7 4区 医学
Neurological Sciences Pub Date : 2025-03-27 DOI: 10.1007/s10072-025-08079-w
D Fontanesi, Giulia Di Rauso, F Cavallieri, V Fioravanti, E Monfrini, J Rossi, G Toschi, R Sabadini, S Montepietra, A Merlo, I Campanini, L Cavazzuti, A Di Fonzo, F Valzania
{"title":"Dopa responsive dystonia due to a GCH1 gene variant mimicking hereditary spastic paraparesis.","authors":"D Fontanesi, Giulia Di Rauso, F Cavallieri, V Fioravanti, E Monfrini, J Rossi, G Toschi, R Sabadini, S Montepietra, A Merlo, I Campanini, L Cavazzuti, A Di Fonzo, F Valzania","doi":"10.1007/s10072-025-08079-w","DOIUrl":"https://doi.org/10.1007/s10072-025-08079-w","url":null,"abstract":"<p><strong>Background: </strong>Dopa-responsive dystonia (DRD) is a group of rare forms of genetically determined dystonia. Large improvements of symptoms can be seen with small doses of levodopa. As a treatable condition, it must be diagnosed and treated to improve the patients' functional outcome and quality of life.</p><p><strong>Case presentation: </strong>We describe the case of a woman affected by progressive gait impairment and lower limb rigidity, started at the age of 15. For talipes equinovarus (clubfoot), she underwent Achilles tendon lengthening and anterior tibial haemitendon transposition surgery. Family history collection revealed that her mother had been diagnosed with spastic paraparesis in adolescence. Clinical phenotype and family history suggested a diagnosis of hereditary spastic paraparesis (HSP), supported by a mild involvement of the pyramidal tract in lower limbs at the motor evoked potential. Clinical evaluation revealed the presence of mild signs of dystonia, as a foot and cervical dystonia and upper limbs dystonic tremor. Indeed, a virtual panel for dystonia genes showed a pathogenic splice-site variant in GCH1. The patient was diagnosed with DRD and low doses of levodopa were started with clinical improvement of both gait and dystonia.</p><p><strong>Conclusion: </strong>We describe the clinical history of a patient with dopa responsive dystonia, which was initially diagnosed with HSP. Misdiagnosis can result in a significant delay in diagnosis and treatment initiation, so it is of the utmost importance to identify these patients without delay, looking for the presence of soft dystonia signs and performing an empirical trial with low doses of levodopa.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143720861","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}
引用次数: 0
Differential effects of high-frequency repetitive transcranial magnetic stimulation over the left and right dorsolateral prefrontal cortex for post-stroke cognitive impairment.
IF 2.7 4区 医学
Neurological Sciences Pub Date : 2025-03-26 DOI: 10.1007/s10072-025-08123-9
Xinlin Jiang, Lei Fan, Wenxin Zhu, Yuwei Xiu, Yuanbiao Liu
{"title":"Differential effects of high-frequency repetitive transcranial magnetic stimulation over the left and right dorsolateral prefrontal cortex for post-stroke cognitive impairment.","authors":"Xinlin Jiang, Lei Fan, Wenxin Zhu, Yuwei Xiu, Yuanbiao Liu","doi":"10.1007/s10072-025-08123-9","DOIUrl":"https://doi.org/10.1007/s10072-025-08123-9","url":null,"abstract":"<p><strong>Objective: </strong>In this study, it is aimed to explore the different effects of repetitive transcranial magnetic stimulation (HF-rTMS)over the left and right dorsolateral prefrontal cortex (DLPFC) for post-stroke cognitive impairment (PSCI).</p><p><strong>Method: </strong>In this study, we allocated 40 patients with PSCI who were divided into the left DLPFC group (n = 20) and the right DLPFC group (n = 20). Patients received 20HZ rTMS over the ipsilateral DLPFC respectively, for 20 consecutive days (20 min/time, 1 time/day). Cognitive performance was assessed before and after treatment using the Montreal Cognitive Assessment (MoCA), the Loewenstein Occupational Therapy Cognitive Assessment (LOTCA), and the Modified Barthel Index (MBI). Furthermore, event-related potential (ERP) detection was also conducted in patients at baseline and after treatment.</p><p><strong>Results: </strong>After treatment, the global cognition, orientation, and language of patients in the left DLPFC group were significantly improved (P < 0.05). While the enhancement of visual perception and spatial perception in the right DLPFC group was significant (P < 0.05). MBI scores in both groups were increased (P < 0.05), but there was no significant difference between the two groups after treatment (P > 0.05).The decrease of latency in the left DLPFC group was more significant than that in the right DLPFC group (P < 0.05), but there was no significant difference in amplitude (P > 0.05).</p><p><strong>Conclusion: </strong>The results support that high-frequency rTMS over the left DLPFC is a more effective treatment for improving global cognition and suggest that the left and right DLPFC are associated with different cognitive functions.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143730805","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}
引用次数: 0
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