Neurologia最新文献

{"title":"Clinical variability in STIM1 variant c.262A>G associated with Stormorken syndrome","authors":"L. Silva-Hernández , B. Cabal-Paz , J. Jiménez-Almonacid , E. González-Vioque , J. Bohm","doi":"10.1016/j.nrleng.2025.01.001","DOIUrl":"10.1016/j.nrleng.2025.01.001","url":null,"abstract":"","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 1","pages":"Pages 89-91"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143054715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thrombosis with thrombocytopenia syndrome following adenovirus vector-based vaccines to prevent COVID-19: Epidemiology and clinical presentation in Spain","authors":"D. García-Azorín ,&nbsp;E. Lázaro ,&nbsp;D. Ezpeleta ,&nbsp;R. Lecumberri ,&nbsp;R. de la Cámara ,&nbsp;M. Castellanos ,&nbsp;C. Iñiguez Martínez ,&nbsp;L. Quiroga-González ,&nbsp;G. Elizondo Rivas ,&nbsp;A. Sancho-López ,&nbsp;P. Rayón Iglesias ,&nbsp;E. Segovia ,&nbsp;C. Mejías ,&nbsp;D. Montero Corominas","doi":"10.1016/j.nrleng.2024.10.001","DOIUrl":"10.1016/j.nrleng.2024.10.001","url":null,"abstract":"<div><h3>Background</h3><div>We describe the epidemiological and clinical characteristics of thrombosis with thrombocytopenia syndrome (TTS) cases reported in Spain.</div></div><div><h3>Methods</h3><div>We included all cases of venous or arterial thrombosis with thrombocytopenia following administration of adenoviral vector vaccines (AstraZeneca or Janssen) against COVID-19 disease between 1 February and 26 September 2021. We describe the crude rate and the standardised morbidity ratio. We assessed the predictors of mortality.</div></div><div><h3>Results</h3><div>Sixty-one cases were reported and 45 fulfilled eligibility criteria; 82% of patients were women. The crude TTS rate was 4 cases/1 000 000 doses, and 14-15 cases/1 000 000 doses among patients aged 30-49 years. The number of observed cases of cerebral venous thrombosis was 6-18 times higher than that expected in patients younger than 49 years. Symptoms started a median (quartiles 1 and 3 [Q₁-Q₃]) of 10 (7-14) days after vaccination. Eighty percent (95% confidence interval [CI]: 65%-90%) had thrombocytopenia at the time of the emergency department visit, and 65% (49%-78%) had D-dimer levels &gt; 2000 ng/mL. Patients had thromboses affecting multiple locations in 36% of cases and fatal outcomea in 24%. Platelet nadir &lt; 50 000/μL (odds ratio [OR]: 7.4; 95% CI: 1.2-47.5) and intracranial hemorrhage (OR: 7.9; 95% CI: 1.3-47.0) were associated with fatal outcomes.</div></div><div><h3>Conclusion</h3><div>TTS must be suspected in patients with symptoms 10 days after vaccination and thrombocytopenia and/or elevated D-dimer levels.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 9","pages":"Pages 721-732"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142564782","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare neurological and neuropsychiatric manifestations of scrub typhus: a case series of 10 cases","authors":"Ritwik Ghosh ,&nbsp;Arpan Mandal ,&nbsp;Moisés León-Ruiz ,&nbsp;Dipayan Roy ,&nbsp;Shambaditya Das ,&nbsp;Souvik Dubey ,&nbsp;Julián Benito-León","doi":"10.1016/j.nrleng.2022.07.001","DOIUrl":"10.1016/j.nrleng.2022.07.001","url":null,"abstract":"<div><h3>Introduction</h3><div>Scrub typhus is a potentially life-threatening but curable disease that can produce multi-organ failure. Neurological manifestations in scrub typhus have gained attention recently, where the entire neural axis except the myoneural junction can be involved. Although the pathogenesis of neurological involvement has not been established, immune-mediated mechanisms are suspected. This article reports the clinicopathological features of scrub typhus cases presenting several rare neurological and neuropsychiatric manifestations.</div></div><div><h3>Methods</h3><div>Three hundred fifty-four serologically confirmed scrub typhus cases were admitted to the Department of General Medicine of Burdwan Medical College and Hospital (West Bengal, India) between May 2018 and May 2022. There were 50 patients who had predominantly neurological manifestations. Of these 50 cases, ten patients presented with extremely rare neurological manifestations.</div></div><div><h3>Results</h3><div>We report 10 cases of scrub typhus (four men and six women) who presented with complex neurological pictures (posterior reversible encephalopathy syndrome, Opalski syndrome, parkinsonism, cerebellitis, isolated opsoclonus, acute transverse myelitis, myositis, polyradiculoneuropathy with cranial neuropathy, acute transient behavioral changes, and fibromyalgia). Immune-mediated mechanisms might have mediated the pathogenesis of most cases following scrub typhus infection.</div></div><div><h3>Conclusion</h3><div>From a clinicopathological point of view, each case was unique in its presentation and treatment response. In any acute onset neurological disorders associated with febrile illness in the tropics or subtropics, scrub typhus infection should be included in the differential diagnosis, despite the absence of eschar and unremarkable neuroimaging findings. This otherwise curable disease may result in multi-organ dysfunction syndrome and death if the diagnosis is delayed.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 9","pages":"Pages 766-780"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40565842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The CORCOBIA study: Cut-off points of Alzheimer’s disease CSF biomarkers in a clinical cohort","authors":"A. Puig-Pijoan ,&nbsp;G. García-Escobar ,&nbsp;A. Fernández-Lebrero ,&nbsp;R.M. Manero-Borràs ,&nbsp;G. Sánchez-Benavides ,&nbsp;I. Navalpotro-Gómez ,&nbsp;D. Cascales Lahoz ,&nbsp;M. Suárez-Calvet ,&nbsp;O. Grau-Rivera ,&nbsp;A. Boltes Alandí ,&nbsp;M.C. Pont-Sunyer ,&nbsp;J. Ortiz-Gil ,&nbsp;S. Carrillo-Molina ,&nbsp;D. López-Villegas ,&nbsp;M.T. Abellán-Vidal ,&nbsp;M.I. Martínez-Casamitjana ,&nbsp;J.J. Hernández-Sánchez ,&nbsp;J. Peña-Casanova ,&nbsp;J. Roquer ,&nbsp;A. Padrós Fluvià ,&nbsp;V. Puente-Périz","doi":"10.1016/j.nrleng.2022.05.002","DOIUrl":"10.1016/j.nrleng.2022.05.002","url":null,"abstract":"<div><h3>Introduction</h3><div>The analysis of the <em>core</em> biomarkers of Alzheimer’s Disease (AD) in the cerebrospinal fluid (CSF) is recommended in the clinical units where it is available. Because of the absence of universal validated values, the determination of specific cut-off points for each center and its population is recommended. The main objective of the CORCOBIA study was to determine the cut-off points of <em>core</em> AD CSF biomarkers for several centers (Parc de Salut Mar, Barcelona and Hospital General de Granollers), which work with the same reference laboratory (Laboratori de Referència de Catalunya).</div></div><div><h3>Methods</h3><div>Prospective study including cognitively unimpaired individuals (CU, n = 42), subjects with amnestic mild cognitive impairment (aMCI, n = 35) and patients with dementia due to Alzheimer’s Disease (AD, n = 48), in whom clinical and neuropsychological assessment, neuroimaging, APOE genotyping and lumbar puncture to analyse amyloid beta peptides (Aβ42, Aβ40), total tau (tTau) and phosphorylated Tau (pTau181) using the Lumipulse G600II (Fujirebio) was performed. The values of sensitivity (SE), specificity (SP), predictive values and area under the curve (AUC) were calculated, determining the cut-off point according to the Youden index by comparing the CU and AD groups.</div></div><div><h3>Results</h3><div>The resulting cut-offs and their AUC were the following: Aβ42 750 pg/mL (AUC 0.809); Aβ42/Aβ40 0.062 (AUC 0.78); pTau181 69.85 pg/mL (AUC 0.81); tTau 522.0 pg/mL (AUC 0.79); Aβ42/tTau 1.76 (AUC 0.86); Aβ42/pTau181 10.25 (AUC 0.86).</div></div><div><h3>Conclusions</h3><div>The determination of cut-off points of <em>core</em> AD CSF biomarkers for the participating centers allows a better diagnostic accuracy. The ratio CSF Aβ42/pTau181 shows the highest AUC and better balance between sensitivity and specificity.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 9","pages":"Pages 756-765"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40609675","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fear of Relapse Scale: Spanish version and psychometric characteristics in a sample of patients with Relapsing-Remitting multiple sclerosis","authors":"Y. Broche-Pérez ,&nbsp;R.M. Jiménez-Morales ,&nbsp;L.O. Monasterio-Ramos ,&nbsp;L.A. Vázquez-Gómez ,&nbsp;Z. Fernández-Fleites","doi":"10.1016/j.nrleng.2022.06.003","DOIUrl":"10.1016/j.nrleng.2022.06.003","url":null,"abstract":"<div><h3>Introduction</h3><div>Relapses are a hallmark of multiple sclerosis, being a characteristic feature of relapsing-remitting multiple sclerosis (RRMS). The occurrence of a relapse constitutes a source of significant discomfort that impacts all domains of daily life of patients with multiple sclerosis (PwMS). In this study we first explored the psychometric properties of the Spanish version of the Fear of Relapse Scale (FoR) in a sample of patients with RRMS. Besides, we explored the relationship between the Fear of Relapse Scale with fatigue and cognitive perceived deficits in our PwMS sample.</div></div><div><h3>Methods</h3><div>An online cross-sectional survey was conducted on 173 MS patients from 12 Spanish-speaking countries (Argentina, Mexico, Uruguay, Dominican Republic, Spain, Cuba, Colombia, Guatemala, Chile, Paraguay, Peru, and El Salvador). Confirmatory factor analysis (CFA) was performed to assess the factor structure of the scale. Multiple linear regression was used to evaluate the effects of health self-perception, fatigue, and perceived cognitive deficits over fear of relapse.</div></div><div><h3>Results</h3><div>The three-factor model in the CFA yielded a good model fit (<em>χ</em>²<em>/df</em> = 2.25, <em>P</em> &lt; .001, RMSEA = .078, CFI = .91). McDonalds’ Omega of the FoR (Spanish version) was .91. There was a statistically significant inverse correlation between FoR and health self-perception, and a positive correlation between FoR, fatigue, and perceived cognitive deficits. Finally, level of fatigue was a predictor of fear of relapse.</div></div><div><h3>Conclusions</h3><div>The Spanish version of the Fear of Relapse Scale is a valid and reliable instrument to explore the experience of fear of relapse in patients with RRMS.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 9","pages":"Pages 749-755"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40565843","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sporadic fatal insomnia: a rapidly progressive phenotype resembling progressive supranuclear palsy","authors":"J.C. Romero-Fábrega ,&nbsp;R. Lorenzo-López ,&nbsp;E. Rivas-Infante ,&nbsp;F. Escamilla-Sevilla ,&nbsp;M. Rashki ,&nbsp;A. Mínguez-Castellanos ,&nbsp;A. Carvajal-Hernández","doi":"10.1016/j.nrleng.2024.02.005","DOIUrl":"10.1016/j.nrleng.2024.02.005","url":null,"abstract":"","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 9","pages":"Pages 820-823"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139934940","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of the burden of migraine on the partner’s lifestyle","authors":"E. Fernández-Bermejo ,&nbsp;Á. Planchuelo-Gómez ,&nbsp;S. Quintas ,&nbsp;A. Gonzalez-Martinez ,&nbsp;D. García-Azorín ,&nbsp;Á. Sierra-Mencía ,&nbsp;Á.L. Guerrero ,&nbsp;S. Santos-Lasaosa ,&nbsp;M. Pilar Navarro-Pérez ,&nbsp;N. González-García ,&nbsp;J. Díaz-de-Terán ,&nbsp;A.B. Gago-Veiga","doi":"10.1016/j.nrleng.2023.06.001","DOIUrl":"10.1016/j.nrleng.2023.06.001","url":null,"abstract":"<div><h3>Background</h3><div>Despite the number of research studies regarding the individual burden of migraine, few studies have examined its impact on the patients’ partners. We aim to assess migraine effects on the patients’ partners on sentimental relationship, children relationship, friendship, and work, as well as the caregiver burden, anxiety and/or depression.</div></div><div><h3>Methods</h3><div>A cross-sectional observational study was conducted through an online survey of partners of patients with migraine followed-up in 5 Headache Units. Questions about the 4 areas of interest and 2 scales (Hospital Anxiety and Depression Scale and Zarit scale) were included. Scores were compared against the population prevalence.</div></div><div><h3>Results</h3><div>One hundred and fifty-five answers were analysed. Among the patient’s partners 135/155 (87.1%) were men, with a mean age of 45.6 ± 10.1 years. Migraine’s main effects on partners were observed in the sentimental relationship and items concerning children and friendships, with a minor impact at work. Partners showed a moderate burden (12/155 = 7.7% [4.1%–13.1%]), and a higher moderate-severe anxiety rate (23/155 = 14.8% [9.6%–21.4%]), and similar depression rate (5/155 = 3.2% [1.1%–7.3%]) compared to the National Health Survey.</div></div><div><h3>Conclusions</h3><div>The burden of migraine impacts the partners’ personal relationship, childcare, friendship and work. Moreover, certain migraine partners showed a moderate burden according to Zarit scale and higher anxiety levels than the Spanish population.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 9","pages":"Pages 810-819"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9888723","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Validation of Neuromyotype: a smart keyboard for the evaluation of spinal muscular atrophy patients","authors":"P. Lizandra Cortés ,&nbsp;D. Poveda Verdú ,&nbsp;A. Albert Férriz ,&nbsp;N.C. Ñungo-Garzón ,&nbsp;M.C. Domine ,&nbsp;T. Sevilla-Mantecón ,&nbsp;I. Pitarch-Castellano ,&nbsp;J.F. Vázquez-Costa","doi":"10.1016/j.nrleng.2022.05.001","DOIUrl":"10.1016/j.nrleng.2022.05.001","url":null,"abstract":"<div><h3>Introduction</h3><div>Spinal muscular atrophy 5q (SMA) is a genetic neurodegenerative disease that affects alpha motor neurons producing progressive weakness. New outcome measures are currently required to accurately characterise the disease progression and the efficacy of new available treatments. The objective of this work is to preliminarily validate a new intelligent keyboard (Neuromyotype) measuring typing strength and speed in patients with SMA.</div></div><div><h3>Material and methods</h3><div>Twenty two SMA patients older than 15 years, and 26 healthy controls were included. Three measurements were obtained with the keyboard (maximum strength, execution time of a random typing task, execution time of a sequential typing task) together with the time to complete the Nine-Hole Peg Test (9HPT). Patients were also administered motor (Hammersmith Functional Motor Scale Expanded, HFMSE; Revised Upper Limb module, RULM), and functional scales (Egen Klassification, EK2; and the revised version of Amyotrophic Lateral Sclerosis Functional Rating Scale, ALSFRS-R). The viability and construct validity of the Neuromyotype were analysed, measuring the discriminative power between patients and controls (using ROC curves and the Bangdiwala's B statistic), between the different functional types of SMA (walker, sitter and non-sitter) and their correlation with the rest of motor scales.</div></div><div><h3>Results</h3><div>Neuromyotype measurements could be performed in all patients, unlike the rest of the scales. Its administration was quick and easy. The 3 variables on the keyboard discriminated very well between patients and controls, with strength (ROC = 0.963) being the one that best differentiates from the 3, equaling 9HPT (ROC = 0.966). They also showed a good ability to differentiate by functional type (especially non-sitters from sitters and walkers), with sequential time (B = 0.83) being the tool that best discriminates between the three groups above the rest of motor scales. All motor and functional scales showed strong or very strong correlations with each other (rs = 0.71–0.99), with strength correlating better with motor scales and timed variables with functional scales.</div></div><div><h3>Conclusion</h3><div>This study shows the feasibility and validity of Neuromyotype for the evaluation of adolescent and adult patients with SMA. Data obtained with this tool could be of great clinical relevance, saving time and resources compared to the rest of the scales.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 9","pages":"Pages 733-742"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40592681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Brief cognitive tests as a decision-making tool in primary care. A population and validation study","authors":"M. Tainta ,&nbsp;A. Iriondo ,&nbsp;M. Ecay-Torres ,&nbsp;A. Estanga ,&nbsp;M. de Arriba ,&nbsp;M. Barandiaran ,&nbsp;M. Clerigue ,&nbsp;M. Garcia-Sebastian ,&nbsp;J. Villanua ,&nbsp;A. Izagirre ,&nbsp;J. Saldias ,&nbsp;A. Aramburu ,&nbsp;J. Taboada ,&nbsp;J. Múgica ,&nbsp;A. Barandiaran ,&nbsp;A. Arrospide ,&nbsp;J. Mar ,&nbsp;P. Martinez-Lage","doi":"10.1016/j.nrleng.2022.08.001","DOIUrl":"10.1016/j.nrleng.2022.08.001","url":null,"abstract":"<div><h3>Introduction and objectives</h3><div>Brief cognitive tests (BCT) are used in primary care (PC) for the detection of cognitive impairment (CI). Still, there are little data on their diagnostic utility (DU) in a community setting. This work evaluates the DU at the population level of Fototest, T@M, AD8 questionnaire and MMSE. It provides new cut-off points (CoP) validated in a CI early detection program.</div></div><div><h3>Material and methods</h3><div>In the population and validation samples, the evaluation was carried out in two phases, a first of screening and administration of BCT and a second of clinical diagnosis, blinded to the results of the BCT, applying the current NIA-AA criteria. The DU of BCT in the population sample was evaluated with the area under the ROC curve (aROC). Youden index and the CoP with the best specificity that ensured a sensitivity of 80% were used to decide on the most appropriate CoP. The sensitivity, specificity, and predictive values for these CoP were calculated in the validation sample.</div></div><div><h3>Results</h3><div>260 participants (23.1% with CI) from the population sample and 177 (42.4% with CI) from the validation sample were included. The Fototest has the best UD at the population level (aROC 0.851), which improves with the combination of Fototest and AD8 (aROC 0.875). The proposed CoP are AD8 ≥ 1, Fototest ≤ 35, T@M ≤ 40, and MMSE ≤ 26.</div></div><div><h3>Conclusion</h3><div>BCT are helpful in detecting CI in PC. This work supports the use of more demanding PoC.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 9","pages":"Pages 781-791"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40610759","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The clinical characteristics of Hirayama disease in females","authors":"Hongwei Wang ,&nbsp;Wei Lei ,&nbsp;Ye Tian ,&nbsp;Jianwei Wu ,&nbsp;Xiaosheng Ma ,&nbsp;Feizhou Lyu ,&nbsp;Xinlei Xia ,&nbsp;Jingjuan Liang ,&nbsp;Jianyuan Jiang ,&nbsp;Hongli Wang","doi":"10.1016/j.nrleng.2022.06.004","DOIUrl":"10.1016/j.nrleng.2022.06.004","url":null,"abstract":"<div><h3>Introduction</h3><div>To characterize Hirayama disease in female patients, and increase awareness among clinicians regarding the specifics of this disease.</div></div><div><h3>Methods</h3><div>Baseline data, clinical manifestations, characteristics of cervical-flexion magnetic resonance imaging, and electromyography were collected and compared among females and males with Hirayama disease. In addition, the literature on Hirayama disease in females up to October, 2021 was searched in PubMed and the relevant data were compared with the data from our study.</div></div><div><h3>Results</h3><div>Twenty female and 40 male patients were included in this study. The average ages of onset and menarche were 14.65 and 12.75 years old. All patients suffered from muscular weakness and atrophy of the upper limb(s), with flattening and/or atrophy of the lower cervical spinal cords in cervical-flexion magnetic resonance imaging, and neurogenic patterns in the atrophic muscles as determined using electromyography. The age of onset in females was about 2 years later than the age of menarche, and the age of onset in females was 2 years earlier than that in males. There were no obvious differences in clinical presentation between males and females.</div></div><div><h3>Discussion</h3><div>Although females presented with Hirayama disease two years earlier than males, no other clinical differences were observed. Hirayama disease is likely associated with growth and development in puberty, and early identification, regardless of whether patients are male or female, is critical to optimizing prognosis.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 9","pages":"Pages 792-801"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40608835","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}