eNeurologicalSci最新文献

{"title":"Rehabilitation for functional enhancement of myasthenia gravis: A systematic review and meta-analysis","authors":"Wen Xiangxiang ,&nbsp;Shen Mengjiao ,&nbsp;Jia Shoumei ,&nbsp;Yu Kaitao ,&nbsp;Xu Yafang ,&nbsp;Jia Jie","doi":"10.1016/j.ensci.2025.100591","DOIUrl":"10.1016/j.ensci.2025.100591","url":null,"abstract":"<div><div>Myasthenia gravis (MG) is a rare neuromuscular disorder that causes muscle weakness and fatigue. This review evaluated the current evidence on the efficacy, tolerance and adherence of rehabilitative interventions. Based on the PRISMA guidelines, 445 articles were identified from major scientific databases. After applying the inclusion and exclusion criteria, 6 studies were included in the final analysis. Two primary rehabilitative strategies - physical and respiratory training - were identified. The results of the systematic review and meta-analysis showed that both interventions improved functional capacity and enhanced the quality of life, with good tolerance and high adherence. This review summarizes the effects of rehabilitative interventions on improving 6-min walk distance (6MWD), quality of life (MG-QOL15), and respiratory function (FEV1 and FVC) in MG patients. One study was rated as high quality (OCEBM level 1b), and five as moderate quality (OCEBM level 2b). Five findings were established and rated as Grade B, according to the OCEBM recommendations. This review demonstrated the potential of structured rehabilitation programs to improve functioning and quality of life in patients with MG, while highlighting the need for further research to optimize and standardize these interventions.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"41 ","pages":"Article 100591"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145320856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"18F-MK-6240 uptake in cortical tau and hemorrhagic lesions in a case of Alzheimer’s disease with possible crossed aphasia","authors":"Masaki Ikeda ,&nbsp;Kenji Ishibashi ,&nbsp;Masakuni Amari ,&nbsp;Masaru Matsumura ,&nbsp;Hiroo Kasahara ,&nbsp;Jun Toyohara ,&nbsp;Sayaka Kodaira ,&nbsp;Tetsuya Higuchi ,&nbsp;Yoshio Ikeda ,&nbsp;Yoshito Tsushima ,&nbsp;Koichi Okamoto ,&nbsp;Kenji Ishii ,&nbsp;Masamitsu Takatama","doi":"10.1016/j.ensci.2025.100596","DOIUrl":"10.1016/j.ensci.2025.100596","url":null,"abstract":"<div><div>We report neuroimaging findings from a 74-year-old right-handed male with Alzheimer’s disease (AD) and lesions of cerebral amyloid angiopathy (CAA), utilizing ¹¹C-PiB-PET, ¹⁸F-THK5351-PET, and ¹⁸F-MK-6240-PET. ¹¹C-PiB-PET showed positive findings consistent with AD. ¹⁸F-THK5351 accumulated in regions of astrogliosis due to tau pathology, subcortical hemorrhage, cortical superficial siderosis (cSS), and monoamine oxidase-B rich areas. ¹⁸F-MK-6240 accumulated in regions with tau pathology, subcortical hemorrhage, and cSS, but not notably in CAA-related microbleeds (CMBs). ^99mTc-ECD SPECT, conducted 9 years post-diagnosis, revealed reduced cerebral blood flow in the bilateral lower temporal lobes and the right posterior temporo-parietal lobes, overlapping the subcortical hemorrhage and cSS. The patient exhibited progression of global cognitive decline and persistent word fluency deficits (name listing) on neuropsychological examination from the early stage of the disease, irrespective of the right hemorrhagic lesions in the non-dominant hemisphere, suggesting possible crossed aphasia. This is the first report of ¹⁸F-MK-6240 binding to a subcortical hemorrhage and cSS lesions, highlighting its binding differences compared to smaller vascular leakages, such as CMBs due to CAA. These results may help refine PET imaging interpretation and diagnostic accuracy for AD with concurrent CAA.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"41 ","pages":"Article 100596"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145614235","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spectacular shrinking deficit followed by delayed Hemichorea-Hemiballismus: Redefining the stroke-TIA spectrum","authors":"Moustafa A. Mansour ,&nbsp;Mohamed Abdel-Fattah El-Salamoni ,&nbsp;Hamdi Nabawi Mostafa","doi":"10.1016/j.ensci.2025.100589","DOIUrl":"10.1016/j.ensci.2025.100589","url":null,"abstract":"<div><div>Spectacular shrinking deficit (SSD) is an exceptionally rare cerebrovascular phenomenon defined by the rapid and near-complete resolution of severe neurological deficits following major hemispheric ischemia. We present the first documented case of SSD manifesting as hemichorea-hemiballismus syndrome—a striking and clinically distinct presentation that challenges current understanding of stroke sequelae. A 59-year-old diabetic female developed violent, involuntary left-sided movements one week after transient left hemiplegia, which resolved spontaneously. Neuroimaging revealed T1 hyperintensities in the right striatum without contrast enhancement, subtle diffusion abnormalities, and focal right MCA stenosis, while metabolic workup ruled out hyperglycemic chorea. The patient's refractory symptoms responded uniquely to tetrabenazine, further supporting an ischemic rather than metabolic etiology.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"41 ","pages":"Article 100589"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145268218","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy and safety of intravenous Levetiracetam as first-line treatment for neonatal clinical seizures: A single-center study (2021−2023)","authors":"Mojtaba Movahedinia ,&nbsp;Seyed Reza Mirjalili ,&nbsp;Narges Abedi Ardekani ,&nbsp;Farimah Shamsi","doi":"10.1016/j.ensci.2025.100583","DOIUrl":"10.1016/j.ensci.2025.100583","url":null,"abstract":"<div><h3>Background</h3><div>Neonatal seizures demand urgent treatment to mitigate neurodevelopmental risks. This study evaluates intravenous levetiracetam's efficacy and safety as first-line therapy for seizures in term neonates.</div></div><div><h3>Methods</h3><div>A retrospective analysis included term neonates with clinical seizures admitted to a NICU (2021–2023), excluding metabolic/other predefined etiologies. All received intravenous levetiracetam initially. Statistical analysis (SPSS v.19) used chi-square and paired <em>t</em>-tests.</div></div><div><h3>Results</h3><div>The study included 40 neonates, of whom 12 (30 %) were male and 28 (70 %) were female. Tonic seizures were the most frequent type (40 %), followed by myoclonic and mixed seizures (22.5 % each). Hypoxic-ischemic encephalopathy (HIE) was the predominant etiology, accounting for 50 % of cases. No significant association was found between seizure type and the number of doses required (<em>p</em> = 0.051) or seizure recurrence within 48 h (<em>p</em> = 0.485). Additionally, the number of doses administered did not significantly impact seizure recurrence after 48 h (<em>p</em> = 0.63).</div></div><div><h3>Conclusion</h3><div>Intravenous levetiracetam demonstrated efficacy in controlling neonatal seizures, with no reported drug-related adverse effects. More than 70 % of neonates required only a single dose, and nearly 85 % remained seizure-free within 48 h. While these findings suggest favorable outcomes with levetiracetam, larger, prospective studies are necessary to further substantiate its efficacy and safety profile in this population.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"41 ","pages":"Article 100583"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145027864","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Longitudinal trends in stroke risk factors and mortality over 20 years from a central stroke referral center in Pakistan using clinically digitized data","authors":"Namrah Aziz ,&nbsp;Shafaq Saleem ,&nbsp;Saadia Sattar ,&nbsp;Sara Khan ,&nbsp;Mohammad Wasay ,&nbsp;Saad Shafqat ,&nbsp;Dureshawar Kanwar ,&nbsp;Sarwar Siddiqui ,&nbsp;Sajid Hameed ,&nbsp;Mushyada Ali ,&nbsp;Zainab Samad ,&nbsp;Ayeesha Kamran Kamal","doi":"10.1016/j.ensci.2025.100598","DOIUrl":"10.1016/j.ensci.2025.100598","url":null,"abstract":"<div><h3>Background</h3><div>Limited data exists on long-term stroke trends in low- and middle-income countries, including Pakistan, despite its growing burden. Understanding these trends is crucial for informing healthcare strategies and public health interventions. This study examines 20-year trends in stroke characteristics, risk factors, and mortality at a tertiary care center in Pakistan.</div></div><div><h3>Methods</h3><div>In this retrospective study, a secondary analysis was conducted using clinically digitized records from the Aga Khan University Hospital. Patients aged ≥18 years, admitted with stroke, and discharged between January 1, 1999, and December 31, 2018, were included. Stroke subtypes were classified using <strong>ICD-9 CM</strong> codes as ischemic stroke, intracerebral hemorrhage (ICH), or transient ischemic attack (TIA) and cross checked against discharge diagnosis and neuroimaging reports to validate case identification. The retrospective, single-center design and possible variability in coding accuracy should be considered limitations when interpreting results.</div></div><div><h3>Results</h3><div>The final cohort included 12,837 patients: 71.4 % ischemic stroke, 21.2 % ICH, and 7.4 % TIA. The median age was 62 years (IQR: 52–70). Stroke admissions rose over time (<em>n</em> = 1975 in 1999–2002 vs. <em>n</em> = 3829 in 2015–2018). Stroke prevalence increased among patients aged 18–40 (<em>p</em> = 0.005) and &gt; 80 (<em>p</em> = 0.002). Risk factors including hypertension, diabetes, atrial fibrillation, smoking, and carotid artery stenosis rose significantly (all <em>p</em> &lt; 0.001). The most frequent comorbidity cluster was hypertension and diabetes (26.3 %), followed by hypertension, diabetes, and dyslipidemia (5.6 %). Unadjusted in-hospital mortality was 9.1 %, declining from 10.4 % to 9.1 % (<em>p</em> = 0.022), primarily due to decreased ICH mortality (24.1 % to 16.4 %, <em>p</em> &lt; 0.001). Mortality predictors included age &gt; 80 (OR 1.70), ICH (OR 3.21), early admission years, complicated diabetes, atrial fibrillation, and multiple comorbidities.</div></div><div><h3>Conclusion</h3><div>Stroke patterns are shifting toward younger age and greater risk factor clustering, though in-hospital mortality has declined. Continued surveillance and targeted interventions are essential.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"41 ","pages":"Article 100598"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145614236","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Parkinsonism in Gerstmann-Sträussler-Scheinker disease: A case report","authors":"Santiago Poveda ,&nbsp;Juan Sebastián Montealegre-Claros ,&nbsp;Lina María Lancheros ,&nbsp;Maria Alejandra Cruz ,&nbsp;Oscar Bernal Pacheco","doi":"10.1016/j.ensci.2025.100587","DOIUrl":"10.1016/j.ensci.2025.100587","url":null,"abstract":"<div><h3>Background</h3><div>Autosomal dominant prion diseases of the central nervous system, including Gerstmann-Sträussler-Scheinker disease (GSS), Creutzfeldt-Jakob disease, and fatal familial insomnia, are caused by mutations in the PRNP gene. These conditions exhibit highly variable clinical and pathological features, making diagnosis challenging, with poor survival outcomes. In Colombia, the incidence of prion diseases remains unknown. We report a case of GSS with parkinsonism, a rare presentation, emphasizing intrafamilial variability with the same pathogenic variant, underscoring the importance of reporting each case.</div></div><div><h3>Case presentation</h3><div>A 55-year-old woman from Colombia presented with symptoms of instability, rigidity, and bradykinesia. Over one year, her condition progressed to cognitive decline, dysphagia, and severe motor impairment. Differential diagnostic studies were conducted. A pathogenic P102L mutation in the PRNP gene was identified, confirming an autosomal dominant inheritance pattern. Symptomatic management and interdisciplinary rehabilitation were initiated. This mutation led to the diagnosis of at least 10 symptomatic family members and allowed for genetic counseling of asymptomatic relatives.</div></div><div><h3>Conclusions</h3><div>This case of GSS with the P102L mutation demonstrates a late onset and rapid progression with atypical parkinsonism presentation, without ataxia, which is predominantly reported in previous cases. The familial segregation of this mutation highlights the importance of monitoring and following at-risk relatives. While the disease remains incurable, knowledge of genetic predisposition allows for better family planning and appropriate medical support, improving quality of life and emotional support.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"41 ","pages":"Article 100587"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145320855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute pneumocephalus following epidural procedure: An unusual presentation with hypertensive emergency and loss of consciousness","authors":"Sindu Mukesh ,&nbsp;Sarayu Devabhaktuni ,&nbsp;Sonum Devi ,&nbsp;Ramit Singla ,&nbsp;Chetan Saini","doi":"10.1016/j.ensci.2025.100595","DOIUrl":"10.1016/j.ensci.2025.100595","url":null,"abstract":"<div><div>Pneumocephalus, the presence of air within the intracranial space, is a rare but recognized complication following epidural procedures. It is more commonly associated with neurosurgical interventions or trauma. We report the case of a 94-year- old female who developed acute pneumocephalus during an epidural steroid injection, presenting with severe dizziness, hypertensive emergency (BP 236/137 mmHg), loss of consciousness, and subsequent spontaneous recovery. Computed tomography (CT) of the head revealed air in the suprasellar region, subarachnoid space, and third ventricle. The patient was treated conservatively with 100 % oxygen and positioning, showing marked improvement on follow-up imaging. This case highlights the importance of early recognition and management of pneumocephalus following epidural procedures, which can manifest with diverse and potentially severe symptoms. Prompt intervention typically results in a favorable prognosis, as seen in our patient, who was discharged without complications. Our case adds to the spectrum of clinical presentations by illustrating the uncommon combination of hypertensive crisis and acute pneumocephalus during an epidural procedure.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"41 ","pages":"Article 100595"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145568448","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Meta meta-analysis of cardiovascular risk factors in Alzheimer's disease","authors":"Olalla Saiz-Vazquez ,&nbsp;Silvia Ubillos-Landa ,&nbsp;Alicia Puente-Martínez","doi":"10.1016/j.ensci.2025.100590","DOIUrl":"10.1016/j.ensci.2025.100590","url":null,"abstract":"<div><h3>Background</h3><div>Alzheimer's disease (AD) is the most common cause of dementia in the elderly. Identifying some of the cardiovascular risk factors for AD could be crucial for primary prevention and help reduce the incidence of AD. Objective: We aimed to perform a meta-meta-analysis of 3 studies to assess the effect of cholesterol, blood pressure and stroke on diagnosis of AD.</div></div><div><h3>Methods</h3><div>The search was restricted to meta-analyses in the last three years assessing cholesterol, blood pressure, stroke and Alzheimer's disease. We applied the PRISMA guidelines.</div></div><div><h3>Results</h3><div>The total effect of cholesterol on risk of AD was significant and heterogeneous. Subgroup analysis shows that LDL-C levels influence the development of AD. High SBP is associated with AD. The exploration of parameters (sex, age, study design, region, and BP measurements) shows that only region significantly moderates the relationship between BP and AD. Results report significant association between ischemic stroke (IS), hemorrhagic stroke (HS) and microinfarcts (MI) with the risk of AD.</div></div><div><h3>Conclusions</h3><div>These results strengthen the evidence that the risk factors related to cardiovascular diseases increase risk for AD. Moreover, moderator analysis supports the robustness of our results. Therefore, future studies should use other uncontrolled factors, such as diabetes, to explain the relationship between these variables.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"41 ","pages":"Article 100590"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145268220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence and risk factors of pediatric seizures in COVID-19 infection: A study from Thailand","authors":"Natnicha Praphaphanthasak,&nbsp;Vitchayaporn Emarach Saengow","doi":"10.1016/j.ensci.2025.100586","DOIUrl":"10.1016/j.ensci.2025.100586","url":null,"abstract":"<div><h3>Introduction</h3><div>COVID-19 is an emerging disease primarily presenting with respiratory tract infections in children. Recent reports have highlighted neurological manifestations, including seizures. However, there is a lack of studies regarding the prevalence and risk factors for pediatric seizures associated with COVID-19 in Thailand.</div></div><div><h3>Methods</h3><div>This retrospective study involved pediatric patients aged 1 month to 15 years who had clinical seizures as a primary symptom alongside COVID-19 infection. Patients diagnosed with Multisystem Inflammatory Syndrome in Children (MIS-C) were excluded. The study was conducted at Maharat Nakhon Ratchasima Hospital from December 1, 2019, to December 30, 2022. Demographic data were recorded. The prevalence of seizures and associated risk factors were evaluated.</div></div><div><h3>Results</h3><div>A total of 963 pediatric patients were included in the study, with ages ranging from 1 month to 15 years. The mean age was 6.8 years (± 4.6 SD), with a male predominance (53.2 % male, 46.8 % female). Among these, 40 cases presented with clinical seizures, resulting in a seizure prevalence of 0.76. In the seizure group, ages ranged from 8 months to 14 years, with a mean age of 3.67 years (± 3.45 SD). This group also exhibited male predominance. Notably, 0.76 % of the patients were under the age of 5 years, and the majority (95 %) experienced febrile seizures associated with the Omicron variant. The identified risk factors for seizures included younger age (less than 5 years) and the severity of COVID-19 infection. A 2-year follow-up review indicated favorable neurodevelopmental outcomes.</div></div><div><h3>Conclusion</h3><div>The prevalence of seizures in pediatric patients with COVID-19 varied according to the viral variant, with the Omicron variant being associated with a surge in febrile seizures. Younger age and the severity of COVID-19 were found to increase the risk of seizure occurrence.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"41 ","pages":"Article 100586"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145118941","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acoustic signatures of bulbar ALS: Predictive modeling with sustained vowels and LightGBM","authors":"Zahra Farrokhi ,&nbsp;Seyed Amirali Zakavi ,&nbsp;Arian Sarafraz ,&nbsp;Maryam Valifard ,&nbsp;Salar Yousefzadeh ,&nbsp;Zahra Mashhadi Tafreshi ,&nbsp;Omid Anbiyaee ,&nbsp;Navid Rostami ,&nbsp;Mahsa Asadi Anar ,&nbsp;Niloofar Deravi","doi":"10.1016/j.ensci.2025.100579","DOIUrl":"10.1016/j.ensci.2025.100579","url":null,"abstract":"<div><h3>Background</h3><div>Amyotrophic Lateral Sclerosis (ALS) is a degenerative neurologic disease with no definitive biomarkers for early detection. This paper discusses the use of acoustic analysis of sustained vowel phonations (SVP) and machine learning in ALS detection.</div></div><div><h3>Methods</h3><div>An SVP corpus of 128 (64 /a/ and 64 /i/) from 31 patients with ALS and 33 healthy controls (HC) was employed. 131 acoustic features, including jitter, shimmer, Mel-Frequency Cepstral Coefficients (MFCCs), and Pathological Vibrato Index (PVI), were extracted. A LightGBM (Light Gradient Boosting Machine)-based model was built and optimized using 5-fold cross-validation to separate ALS cases. Model performance and feature importance were evaluated.</div></div><div><h3>Results</h3><div>The model performed well with high predictability, yielding an RMSLE of 0.162 and most predictions closely correlating with actual diagnoses. The top features obtained were S55_i, CCI(2), and dCCa(12), which were consistently at the top of the ranking list, indicating their role in ALS detection. The PVI was determined to be a significant biomarker with high values having high correlations with ALS diagnoses. But the multimodal nature of the predictive values indicated some flaws in generalization.</div></div><div><h3>Conclusion</h3><div>This paper demonstrates the applicability of acoustic analysis and machine learning for early ALS detection. The proposed method provides an affordable, low-cost, and non-invasive way for ALS diagnosis with potential for application in telemedicine and clinical settings. Future research must expand datasets and integrate additional diagnostic modalities to improve the model's robustness and clinical translation.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"40 ","pages":"Article 100579"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144780878","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}