Neurological Sciences最新文献

{"title":"Acute dizziness prompting diagnosis of NOTCH2NLC-related neuronal intranuclear inclusion disease: diffusion-weighted imaging and multisystem clues.","authors":"Jie-Qiang Xia, Yan Lin, Qing Lin, Guang-Qing Shi, Hao Sun","doi":"10.1007/s10072-026-09474-7","DOIUrl":"https://doi.org/10.1007/s10072-026-09474-7","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 11","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149228245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Construction and validation of a predictive model for sleep disorders among rural older adults with mild cognitive impairment.","authors":"Teng Yang, Jiajing Chi, Jia Song, Luyao Yan, Wen Li, Ziting Xu, Haoyuan Li, Chunhao Dai, Minmin Leng","doi":"10.1007/s10072-026-09492-5","DOIUrl":"https://doi.org/10.1007/s10072-026-09492-5","url":null,"abstract":"<p><strong>Objective: </strong>to construct and validate a risk assessment model for sleep disturbance among rural older adults with mild cognitive impairment (MCI), to support early screening and targeted intervention.</p><p><strong>Design: </strong>a cross-sectional study using data from the 2024 baseline survey of the Active Aging Cohort in Rural Areas, Shandong Province, China.</p><p><strong>Subjects: </strong>1,049 rural older adults aged ≥ 60 years with MCI.</p><p><strong>Methods: </strong>demographic, lifestyle, disease history, and psychological factors were collected through face-to-face survey questionnaires and health examinations. Sleep quality was assessed using the Pittsburgh Sleep Quality Index (PSQI). Logistic regression identified independent predictors, which were used to build a nomogram. Model performance was evaluated with ROC curve, calibration curve, decision curve analysis, and bootstrap validation.</p><p><strong>Results: </strong>the prevalence of sleep disturbance was 54.2%. Sex, hypertension, self-rated health, and depression were identified as independent predictors. The nomogram demonstrated good discrimination (AUC = 0.759, 95%CI: 0.731-0.778) and calibration, with internal validation confirming robustness.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 11","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149224660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical characteristics and prognosis of central nervous system Klebsiella pneumoniae infection: a focus on hypervirulent and classical strains.","authors":"Lu You, Jing Bai, Fan Meng, Xiang Yin","doi":"10.1007/s10072-026-09499-y","DOIUrl":"https://doi.org/10.1007/s10072-026-09499-y","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the clinical characteristics, diagnosis, treatment, and prognosis of 20 cases of central nervous system (CNS) Klebsiella pneumoniae infection diagnosed by metagenomic next-generation sequencing (mNGS), and to compare the differences between classical Klebsiella pneumoniae (cKP) and hypervirulent Klebsiella pneumoniae (hvKP) in central nervous system infections.</p><p><strong>Methods: </strong>Retrospective single-center study of 20 mNGS-diagnosed CNS K. pneumoniae infections (January 2022 - March 2026). Univariate analysis compared hvKP and cKP groups.</p><p><strong>Results: </strong>Among 20 patients, 19 were diagnosed by CSF mNGS and 1 by abscess fluid mNGS. The cKP group had a higher proportion of tumor history (P = 0.029) and a marginally higher rate of neurosurgery history (P = 0.082). Type 2 diabetes was common in both groups (66.7% vs. 62.5%). The hvKP group had higher rates of focal neurological deficits (77.8% vs. 12.5%, P = 0.015) and bacteremia/sepsis (66.7% vs. 37.5%, P = 0.009), while the cKP group had more delirium (62.5% vs. 11.1%, P = 0.050). CSF mNGS positivity (95%) surpassed culture (23.5%, P < 0.001). Radiologically, hvKP showed more brain abscesses (P = 0.015). hvKP had worse modified Rankin Scale scores (P = 0.002) and higher mortality (44.4% vs. 0%, P = 0.002). No cKP deaths occurred.</p><p><strong>Conclusion: </strong>hvKP and cKP CNS infections differ significantly. hvKP is associated with community-onset severe disease (multiple brain abscesses, pyoventricle, focal deficits) and high mortality, while cKP links to nosocomial factors and better outcomes. mNGS is key for diagnosis, offering high CSF positivity and concurrent virulence/resistance profiling. Potential prognostic factors identified include high CSF mNGS reads, resistance genes, early liver abscess drainage, timely intravitreal injection, and combination therapy.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 11","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149228213","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ulnar neuropathy at the elbow: from diagnosis to rehabilitation.","authors":"Danilo Donati, Milena Morselli, Vincenzo Ricci, Lucia D'Auria, Paolo Boccolari, Roberto Tedeschi, Fabio Vita, Vincenza Amoruso, Luigi Tarallo","doi":"10.1007/s10072-026-09481-8","DOIUrl":"https://doi.org/10.1007/s10072-026-09481-8","url":null,"abstract":"<p><strong>Background: </strong>Ulnar neuropathy at the elbow (UNE) is the second most common entrapment neuropathy of the upper limb, involving physical medicine and rehabilitation, neurology, orthopedics, and plastic surgery. It results from static or dynamic ulnar nerve instability, cubital tunnel syndrome, or space-occupying lesions. Accurate diagnosis requires thorough history, clinical examination, and selection of appropriate diagnostic tests.</p><p><strong>Search strategy: </strong>PubMed/MEDLINE, Scopus and Web of Science were searched (January 2000-August 2026) using combinations of \"ulnar neuropathy\", \"cubital tunnel syndrome\", \"elbow\", \"ultrasound\", \"electrodiagnosis\", \"conservative treatment\", \"rehabilitation\" and \"surgery\". English-language original studies, systematic reviews and meta-analyses were eligible; case reports were included only where no higher-level evidence existed. Approximately 220 records were screened; 58 were retained, following SANRA recommendations for narrative reviews.</p><p><strong>Discussion: </strong>High-resolution ultrasound provides dynamic, non-invasive, cost-effective evaluation of the ulnar nerve and real-time assessment of compression or instability, and guides minimally invasive procedures such as perineural injections, although the only randomized placebo-controlled trial did not show superiority of corticosteroid injection over placebo. Conservative treatment is usually first-line, although surgery may be required in advanced or refractory cases; comparative evidence shows no clear superiority among surgical techniques, while endoscopic decompression carries a higher complication rate than open approaches.</p><p><strong>Conclusions: </strong>This narrative review summarizes current evidence on diagnostic pathways and therapeutic options for UNE, highlighting the role of ultrasound as both a diagnostic and interventional tool, and outlines gaps in the literature regarding standardized conservative and surgical protocols.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 11","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149224665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Computerized fine motor assessment in Parkinson's Disease: Task-specific measures provide complementary clinical information.","authors":"Beste Menteşe, Fatma Nur Savran, Melike Batum, Necip Kutlu","doi":"10.1007/s10072-026-09482-7","DOIUrl":"https://doi.org/10.1007/s10072-026-09482-7","url":null,"abstract":"<p><strong>Background: </strong>Fine motor impairment is a common feature of Parkinson's disease (PD) and contributes substantially to functional disability. Although the Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS Part III) remains the standard clinical tool for motor evaluation, quantitative computerized assessments may provide complementary task-specific information.</p><p><strong>Objectives: </strong>This cross-sectional case-control study compared fine motor performance measured using the Motorische Leistungs-Serie (MLS) between 19 patients with idiopathic PD and 20 healthy controls and examined associations between MLS-derived parameters and clinical motor severity.</p><p><strong>Methods: </strong>Motor performance was evaluated using five MLS subtests covering aiming behavior, hand steadiness, precision arm-hand coordination, speed arm-hand, and speed wrist-finger tasks.</p><p><strong>Results: </strong>After adjustment for age, sex, and educational level, patients with PD showed significantly poorer overall fine motor performance, as reflected by the Composite Motor Performance Score, together with significant impairments in selected task-specific measures of aiming performance and visuomotor tracking. Several MLS-derived parameters, particularly aiming duration and hand steadiness, were significantly associated with MDS-UPDRS Part III scores.</p><p><strong>Conclusion: </strong>These findings suggest that MLS-derived task-specific measures provide objective quantitative information that complements conventional clinical motor assessment in Parkinson's disease. Analysis of individual task-specific parameters may provide complementary clinically relevant information beyond a single global composite score. However, larger prospective studies are required to determine the clinical utility of task-specific computerized fine motor assessment for monitoring disease progression and treatment response.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 11","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149224727","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diet and physical activity in multiple sclerosis: associations with quality of life and disability by disease duration.","authors":"Nupur Nag, Maggie Yu, Cristina A F Román, Annette Vaglio-Garro, Hollie Schmidt","doi":"10.1007/s10072-026-09352-2","DOIUrl":"https://doi.org/10.1007/s10072-026-09352-2","url":null,"abstract":"<p><strong>Background: </strong>Healthy lifestyle factors are associated with higher quality of life (QoL) and reduced disability in people with multiple sclerosis (pwMS). Whether these associations differ according to MS duration is unclear. We examined associations between diet, supplement use, wellness activities, and physical activity with QoL and ambulatory disability, and whether these associations differed between pwMS diagnosed within ≤ 5 years versus > 5 years.</p><p><strong>Methods: </strong>Cross-sectional self-reported survey data from 1,083 pwMS were analysed. Diet, supplement use, and wellness activities were queried via tick-box options and recategorised. Physical activity was assessed using the Godin-Shephard Leisure-Time Physical Activity Questionnaire. QoL was measured using Neuro-QoL, and ambulatory disability using the Patient Determined Disease Steps. Multivariable linear and moderation analyses were conducted.</p><p><strong>Results: </strong>Associations differed by MS duration: a low-saturated fat diet and \"other\" diets were associated with lower QoL in the > 5-years group, whereas omega-3 supplement use was associated with higher physical QoL in the ≤ 5-years group. Physical activity was associated with higher QoL in both groups, with mostly stronger associations within ≤ 5-years. Very active physical activity was associated with lower ambulatory disability across both groups. Mind-based wellness activities were associated with lower QoL in the > 5-years group, with no group differences. Vitamin D supplement use was not associated with outcomes.</p><p><strong>Conclusions: </strong>Physical activity is associated with higher QoL and lower disability irrespective of MS duration and should be integrated across the disease course. MS duration may modify associations between other lifestyle factors and QoL, supporting consideration of disease stage when tailoring lifestyle recommendations.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 11","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149228177","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Social vulnerability as a key dimension of frailty in Alzheimer's disease and frontotemporal dementia.","authors":"Andrea Panzavolta, Alessandra Dodich, Marta Picascia, Matteo Cotta Ramusino, Giulia Perini, Claudia Meli, Giulia Funghi, Alfredo Costa, Chiara Cerami","doi":"10.1007/s10072-026-09473-8","DOIUrl":"https://doi.org/10.1007/s10072-026-09473-8","url":null,"abstract":"<p><strong>Objectives: </strong>Frailty and social vulnerability are two dynamic and multidimensional constructs able to capture susceptibility to adverse health outcomes related to physical decline or arising from weakened social connections, support, and resources. While the burden of physical frailty in dementia has been well established, the impact of disadvantageous social conditions is less known. In this study, we investigated these dimensions in Alzheimer's disease (AD) and frontotemporal dementia (FTD) with the aim of describing possible common and individual trajectories.</p><p><strong>Methods: </strong>47 individuals living with AD and 24 with FTD, as well as 66 healthy control (HC) subjects, were included. An ad hoc developed 60-item bidimensional Frailty Index (FI) questionnaire was administered to explore the two dimensions. Global (gFI), physical (pFI) and social (sFI) FI scores were derived and compared among groups with ANCOVA, including age and education as covariates. Pearson's correlation analyses explored the relationship between FI scores and clinical-neuropsychological measures.</p><p><strong>Results: </strong>No group effect was observed for pFI. Both patient groups showed significantly higher gFI and sFI levels compared to HC. sFI positively correlated with disease severity and cognitive patterns in both dementias.</p><p><strong>Conclusion: </strong>Our findings point to an urgent need for person-centered care strategies that extend beyond biomedical models. Deficits in social connections and support represent a primary and common underpinning of vulnerability in dementia populations. A timely periodic evaluation of non-physical determinants of vulnerability may contribute to a better and earlier detection of maladaptive trajectories with a consequent beneficial effect on the well-being and burden of the patient-caregiver dyad.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 11","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149228253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring body image perception in people with multiple sclerosis: the role of self-esteem and disease burden.","authors":"Omid Mirmosayyeb, Mohammad Yazdan Panah, Mehra Fekri, Aysa Shaygannejad, Saeed Vaheb, Alireza Afshari-Safavi, Vahid Shaygannejad","doi":"10.1007/s10072-026-09458-7","DOIUrl":"https://doi.org/10.1007/s10072-026-09458-7","url":null,"abstract":"<p><strong>Background: </strong>Multiple sclerosis (MS) may affect physical functioning, self-perception, and psychosocial well-being. Although body image may be understood as a fundamental element of the psychological experience of people with MS (PwMS), it has not been sufficiently investigated in MS. This study aimed to explore body image perception and its contributors among PwMS.</p><p><strong>Methods: </strong>This cross-sectional study enrolled 100 PwMS from the Isfahan Hakim MS Database between November 2025 and March 2026. Data were collected using demographic and clinical questionnaires and validated Persian versions of the Body Appreciation Scale (BAS), Rosenberg Self-Esteem Scale (RSES), Multiple Sclerosis Impact Scale-29 (MSIS-29), and Patient Determined Disease Steps Scale (PDDS). The generalized linear model was applied to identify candidate predictors of body image in PwMS.</p><p><strong>Results: </strong>PwMS were predominantly female (77%), with a mean age of 34.4 years, and most had relapsing-remitting MS (85%). In multivariable analyses, higher self-esteem consistently emerged as the strongest independent predictor of more favorable body image (B = 1.05, p < 0.001). Shorter disease duration (B = -0.02, p = 0.036), older age at disease onset (B = 0.12, p = 0.049), lower psychological impact (B = -0.18, p = 0.023), and lower overall MS impact (B = -0.06, p = 0.047) were also independently associated with better body image.</p><p><strong>Conclusion: </strong>Body image perception in PwMS is influenced by psychological resources and perceived disease burden, beyond neurological disability alone. Integrating interventions such as self-esteem-enhancing and psychologically supportive into MS care may improve patient-centered outcomes.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 11","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149220255","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy and safety of tolebrutinib in multiple sclerosis: a systematic review and meta-analysis.","authors":"Nada Mosad, Yara Roshdy, Tasbih Emad, Ahmed Harb, Dina Essam Abo-Elnour, Yasein Fadel Awadalla, Woroud Al Fauomi, Asmaa Zakria Alnajjar","doi":"10.1007/s10072-026-09459-6","DOIUrl":"10.1007/s10072-026-09459-6","url":null,"abstract":"<p><strong>Background: </strong>Tolebrutinib is an oral, brain-penetrant Bruton's tyrosine kinase (BTK) inhibitor being investigated for multiple sclerosis (MS). Early data point to reduced relapse rates and radiological disease activity, along with a reassuring safety profile. This systematic review and meta-analysis bring together the available evidence on its clinical efficacy and adverse events.</p><p><strong>Methods: </strong>We searched PubMed, Web of Science, and Scopus through February 2026 using predefined eligibility criteria. Data were extracted on efficacy outcomes (disability progression and improvement, MRI activity, and brain volume change) and safety outcomes (any adverse events, serious adverse events, adverse events leading to discontinuation, headache, ALT elevation, and death). Continuous outcomes were pooled as means using reported means and standard deviations; proportional outcomes were pooled from event and total counts. Analyses were run in R using random-effects models, with data unsuitable for pooling described narratively.</p><p><strong>Results: </strong>Four publications met our inclusion criteria: three reporting four randomized controlled trials and one long-term extension study. Tolebrutinib reduced the risk of confirmed disability progression at both ≥3 and ≥6 months, and disability improvement at 6 months was numerically higher than with comparators, though not conclusively so. Pooled progression rates were 18.35% (95% CI 9.73-31.9) at ≥3 months and 14.08% (95% CI 6.78-26.95) at ≥6 months. Mean brain volume change was -0.69% (95% CI -0.73 to -0.65). Adverse events of any kind occurred in 75.98% of patients, serious adverse events in 11.26%, and discontinuation due to adverse events in 4.14%; deaths were rare.</p><p><strong>Conclusion: </strong>The available trial evidence suggests that tolebrutinib may reduce confirmed disability progression in nonrelapsing secondary progressive MS and MRI inflammatory activity versus placebo in earlier-phase relapsing MS. These findings are preliminary and should not be interpreted as definitive comparative evidence; longer-term, adequately powered studies are needed to define durability, safety, and its place relative to established disease-modifying therapies.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 11","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149220241","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Delayed diagnosis of cerebrotendinous xanthomatosis with progressive neurological involvement: a case report.","authors":"Wenting Zhou, Yanyun Wu, Sihui Chen, Youjia Liu, Wei Song, Huifang Shang, Chen Xueping, Ruwei Ou","doi":"10.1007/s10072-026-09490-7","DOIUrl":"https://doi.org/10.1007/s10072-026-09490-7","url":null,"abstract":"<p><strong>Background: </strong>Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive metabolic disorder caused by pathogenic variants in the CYP27A1 gene. Although effective treatment with chenodeoxycholic acid (CDCA) is available, diagnosis is often delayed due to its heterogeneous clinical manifestations and involvement of multiple organ systems.</p><p><strong>Case: </strong>We report a 34-year-old man with genetically confirmed CTX who presented with progressive gait instability, dysarthria, dysphagia, and cognitive impairment. His medical history revealed childhood-onset bilateral cataracts, chronic diarrhea, and poor academic performance, while bilateral Achilles tendon masses that developed in adulthood were initially misdiagnosed as benign lipomas. Neurological examination demonstrated cognitive impairment, cerebellar ataxia, and pyramidal signs. Whole-exome sequencing identified a homozygous pathogenic variant in CYP27A1 (NM_000784.4): c.1072 C > T; p.(Gln358Ter), confirming the diagnosis of CTX. After initiation of CDCA therapy (750 mg/day), plasma 7α-hydroxy-4-cholesten-3-one levels decreased markedly, accompanied by improvements in gastrointestinal symptoms, cognition, gait stability, and daily living activities during 6 months of follow-up. However, persistent cerebellar atrophy on follow-up neuroimaging suggested limited reversibility of established neurological damage.</p><p><strong>Conclusion: </strong>This case highlights the importance of recognizing multisystem manifestations of CTX for early diagnosis and timely CDCA therapy.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 11","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149220252","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}