eNeurologicalSci最新文献

筛选
英文 中文
The impact of COVID-19 pandemic on patients with Huntington's disease and care-givers: A French survey COVID-19 大流行对亨廷顿氏病患者和护理人员的影响:法国调查
eNeurologicalSci Pub Date : 2024-07-20 DOI: 10.1016/j.ensci.2024.100517
Sara Meoni , Elena Moro
{"title":"The impact of COVID-19 pandemic on patients with Huntington's disease and care-givers: A French survey","authors":"Sara Meoni ,&nbsp;Elena Moro","doi":"10.1016/j.ensci.2024.100517","DOIUrl":"10.1016/j.ensci.2024.100517","url":null,"abstract":"<div><p>Although the impact of the first wave of the COVID-19 pandemic on people with several neurological diseases has been largely investigated, little is available concerning people with Huntington's disease (HD).</p><p>The main objective of the study was to interview people with HD and their caregivers in the Auvergne-Rhone Alpes region, France.</p><p>The interview consisted of 16 items concerning general and medical information, and the impact of the first wave of COVID-19 pandemic on the medical care of people with HD and on their caregivers. The questionnaire was made available as online survey from October 1st, 2020 until November 15th, 2020.</p><p>Fifty-two subjects participated (13 men, 39 women, mean age of 47.3 ± 15.5 years). Almost half participants (48%) experienced a worsening of pre-existing symptoms, with new-onset symptoms in the 44% of cases. The most frequent worsening was reported in gait and balance issues (67%), fatigue (58%), anxiety (50%), and depression (50%). The 70.8% of participants reported an inappropriate overall care of HD due to long delays to access medical care (30%) and other health care teams (60%). More than half of the participants (54.2%) reported that the COVID-19 pandemic had a negative impact on their caregiver/family.</p><p>Our findings emphasize the negative impact of the first wave of COVID-19 pandemic on the healthcare of HD population and their caregivers. Not only some symptoms were aggravated, but new symptoms appeared during the pandemic. In the future, health policies should be considered to improve the care of patients with rare diseases such as HD.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"36 ","pages":"Article 100517"},"PeriodicalIF":0.0,"publicationDate":"2024-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000248/pdfft?md5=a3543e8bd9c10af63a9f11a7f6618ae5&pid=1-s2.0-S2405650224000248-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141838811","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}
引用次数: 0
Spontaneous subarachnoid hemorrhage in a referral health Centre in Central Africa 中部非洲一家转诊医疗中心发生的自发性蛛网膜下腔出血
eNeurologicalSci Pub Date : 2024-07-20 DOI: 10.1016/j.ensci.2024.100518
Daniel Gams Massi , Mikael Doufiene Pazeu , Mathieu Motah , Annick Melanie Magnerou , Caroline Kenmegne , Salomon Mbahé , Njankouo Yacouba Mapoure
{"title":"Spontaneous subarachnoid hemorrhage in a referral health Centre in Central Africa","authors":"Daniel Gams Massi ,&nbsp;Mikael Doufiene Pazeu ,&nbsp;Mathieu Motah ,&nbsp;Annick Melanie Magnerou ,&nbsp;Caroline Kenmegne ,&nbsp;Salomon Mbahé ,&nbsp;Njankouo Yacouba Mapoure","doi":"10.1016/j.ensci.2024.100518","DOIUrl":"10.1016/j.ensci.2024.100518","url":null,"abstract":"<div><h3>Background</h3><p>Spontaneous subarachnoid hemorrhage (sSAH) is a medicosurgical emergency with high morbidity and mortality. The aimed of this study was to describe the clinical features and outcome of sSAH in Cameroon.</p></div><div><h3>Methods</h3><p>We reviewed medical records of patients aged ≥15 years old, admitted for sSAH from Januray 2011 to December 2020 in the Douala General Hospital. The diagnosis of sSAH was confirmed by neuroimaging (CT scan or MRI). Clinical and radiological severities were assessed by the WFNS score and the modified Fisher score respectively. Factors associated to in-hospital mortality was identified using cross-table (RR and 95%CI).</p></div><div><h3>Results</h3><p>Among the 111 cases of sSAH reviewed in emergencies records, we included 70 patients. The mean age was of 55.6 ± 13.6 years. Female were predominant (57.1%). Altered consciousness was the main clinical feature (55.7%). The WFNS score was grade 4–5 in 54.3% of patients. And 75.7% of cases presented a modified Fisher score of 3–4. Ruptured of intracranial aneurysm was the most common etiology (46.2%). Endovascular treatment and/or surgical treatment were not avaible. Hospital-based mortality was 40% and factor associated with death were Altered consciousness (RR: 4.3, 95%CI:1.52–12.33, <em>p</em> = 0.004), coma (RR: 23.9, 95%CI:2.85–200.62, p = 0.004), WFNS grade 5 (RR: 18.2, 95%CI:3.7–92.3, <em>p</em> &lt; 0.001), and hospital length ≤ 7 days (RR: 13.5, 95%CI:4.28–42.56, p &lt; 0.001).</p></div><div><h3>Conclusion</h3><p>Mortality and disability of sSAH are still high in our setting. Further studies with prospective follow up of patients are needed to determine the long-term outcome of these patients.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"36 ","pages":"Article 100518"},"PeriodicalIF":0.0,"publicationDate":"2024-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S240565022400025X/pdfft?md5=f429d6f74a472657398a70b5acf9a9b1&pid=1-s2.0-S240565022400025X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141949916","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}
引用次数: 0
Diagnostic uncertainty of steroid-modified Marburg's variant of multiple sclerosis even at autopsy: A case suggesting lymphoma and related myelin loss 类固醇修饰的马尔堡变异型多发性硬化症尸检诊断不确定:一例提示淋巴瘤和相关髓鞘缺失的病例
eNeurologicalSci Pub Date : 2024-07-11 DOI: 10.1016/j.ensci.2024.100515
Akira Hanazono , Keita Yasuda , Hinako Shimada , Yoshiko Takahashi , Homare Funasaka , Yui Sanpei , Masashiro Sugawara
{"title":"Diagnostic uncertainty of steroid-modified Marburg's variant of multiple sclerosis even at autopsy: A case suggesting lymphoma and related myelin loss","authors":"Akira Hanazono ,&nbsp;Keita Yasuda ,&nbsp;Hinako Shimada ,&nbsp;Yoshiko Takahashi ,&nbsp;Homare Funasaka ,&nbsp;Yui Sanpei ,&nbsp;Masashiro Sugawara","doi":"10.1016/j.ensci.2024.100515","DOIUrl":"https://doi.org/10.1016/j.ensci.2024.100515","url":null,"abstract":"<div><p>MS (multiple sclerosis) has specific criteria to avoid misdiagnosis. However, the Marburg variant of MS is so fulminant that initial axonal damage and other atypical observations have been allowed in past reports. We present a 74-year-old autopsy case with a vanishing tumor after steroids and radiation therapy, which was pathologically diagnosed as a Marburg variant with initial axonal loss. The case displayed radiological lymphoma-like observations: mass effects protruding to the lateral ventricle, fused extension from the choroid plexus to white matter with C opening sign, a growing lesion from the skull dura mater, high in diffusion-weighted imaging and low in apparent diffusion coefficient on magnetic resonance imaging (MRI) suggesting high cell density lymphoma. In addition, clinical manifestations were atypical for MS: upper limb monoplegia without ipsilateral lower limb involvement, pleocytosis over 50 cells/μL, and class 3 cytological abnormality in cerebrospinal fluid. However, at autopsy following steroids and radiation therapy, there were no lymphoma-like lesions, such as mass effects, fused extensive lesions, masses on the skull dura mater, or high cell density lesions. Instead, there were only myelin losses corresponding to the MRI lesions, highlighting the potential for contamination by other diseases in steroid-modified Marburg's variant of multiple sclerosis, possibly due to lymphoma, even at autopsy.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"36 ","pages":"Article 100515"},"PeriodicalIF":0.0,"publicationDate":"2024-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000224/pdfft?md5=721f48bbb51000432f4a77e4ef2ec11e&pid=1-s2.0-S2405650224000224-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141606621","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}
引用次数: 0
Successful use of intra venous tenecteplase for acute ischemic stroke in pregnancy 静脉注射替奈普酶治疗妊娠期急性缺血性脑卒中取得成功
eNeurologicalSci Pub Date : 2024-06-19 DOI: 10.1016/j.ensci.2024.100510
Balamurugan Namasivayam , Chitra Sengodan , Lavanya Mohanasundaram , Sathya Chinna Gounder , Madunisha Sivakumar
{"title":"Successful use of intra venous tenecteplase for acute ischemic stroke in pregnancy","authors":"Balamurugan Namasivayam ,&nbsp;Chitra Sengodan ,&nbsp;Lavanya Mohanasundaram ,&nbsp;Sathya Chinna Gounder ,&nbsp;Madunisha Sivakumar","doi":"10.1016/j.ensci.2024.100510","DOIUrl":"https://doi.org/10.1016/j.ensci.2024.100510","url":null,"abstract":"<div><p>Intravenous thrombolysis (IVT) with tenecteplase or alteplase is the standard of care in, patients with Acute Ischemic Stroke (AIS) presenting within 3–4.5 h. However here, are no established guidelines for such treatment during pregnancy. We report a case, of AIS in third trimester of pregnancy successfully treated with Tenecteplase. To the, best of our knowledge, this is the first and only case of acute ischemic stroke in, pregnancy treated with Tenecteplase.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"36 ","pages":"Article 100510"},"PeriodicalIF":0.0,"publicationDate":"2024-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000170/pdfft?md5=1aa509a542fd1f1171eb3ac3e99182ec&pid=1-s2.0-S2405650224000170-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141429011","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}
引用次数: 0
Is endocrine surveillance important in the care of Duchenne Muscular Dystrophy? Results from a national survey to patients and families on endocrine complications 内分泌监测对杜兴氏肌肉萎缩症的治疗重要吗?对患者和家属进行内分泌并发症全国调查的结果
eNeurologicalSci Pub Date : 2024-06-15 DOI: 10.1016/j.ensci.2024.100513
Despoina Galetaki , Vivian Szymczuk , Melody Shi , Nadia Merchant
{"title":"Is endocrine surveillance important in the care of Duchenne Muscular Dystrophy? Results from a national survey to patients and families on endocrine complications","authors":"Despoina Galetaki ,&nbsp;Vivian Szymczuk ,&nbsp;Melody Shi ,&nbsp;Nadia Merchant","doi":"10.1016/j.ensci.2024.100513","DOIUrl":"10.1016/j.ensci.2024.100513","url":null,"abstract":"<div><p>Glucocorticoids are standard of care for patients with Duchenne muscular dystrophy (DMD). Although prolonged exposure is associated with multiple endocrine side effects, current guidelines related to monitoring and management of endocrinopathies are suboptimal. We aim to explore community perceptions of endocrine related complications in patients with DMD, assess current level of understanding, and desire for further education. A 31-item online survey was sent through Parent Project to Muscular Dystrophy (PPMD) to Duchenne Registry members to be completed by patients or their caretakers. Response rate was 55% (<em>n</em> = 75). Steroids were taken by 93%, but only 50% were followed by endocrinology and 21% report never been seen by endocrinology. Bone health was discussed with 87% of patients and 60% were diagnosed with osteoporosis. Delayed puberty was discussed with 41% of patients with 23% receiving testosterone therapy. About half the patients reported a diagnosis of slowed growth. Only 51% of the participants recalled discussing adrenal insufficiency. Obesity was discussed with 59% of participants. Families felt education about steroid-induced endocrinopathies to be very or extremely important and prefer to discuss about this at the beginning of their steroid therapy. This demonstrates significant gaps in education and access to endocrine care in patients with DMD.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"36 ","pages":"Article 100513"},"PeriodicalIF":0.0,"publicationDate":"2024-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000200/pdfft?md5=69cc0a0ba5ae430c232f8a19911ec762&pid=1-s2.0-S2405650224000200-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141392362","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}
引用次数: 0
Acute Motor Conduction Block Neuropathy After Initiation of Omalizumab: Case Report and Literature Review for Possible Causality 开始使用奥马珠单抗后出现急性运动传导阻滞性神经病:病例报告和可能因果关系的文献综述
eNeurologicalSci Pub Date : 2024-06-15 DOI: 10.1016/j.ensci.2024.100512
Hosna S. Elshony , Abdulaziz Al-Ghamdi
{"title":"Acute Motor Conduction Block Neuropathy After Initiation of Omalizumab: Case Report and Literature Review for Possible Causality","authors":"Hosna S. Elshony ,&nbsp;Abdulaziz Al-Ghamdi","doi":"10.1016/j.ensci.2024.100512","DOIUrl":"10.1016/j.ensci.2024.100512","url":null,"abstract":"<div><h3>Background</h3><p>Omalizumab is an established therapy for allergic conditions, yet its neurological effects remain underexplored compared to other biological agents.</p></div><div><h3>Case description</h3><p>A 45-year-old male with asthma developed acute quadriparesis one week after receiving the first dose of omalizumab. Electrophysiological studies have shown partial motor conduction block in multiple nerves, with reduced CMAP amplitudes and absent F-waves in others. CSF showed cyto-albuminous dissociation. The diagnosis was a variant of Guillain-Barré syndrome. Despite intravenous immunoglobulin (IVIG) therapy, the patient experienced persistent neuropathic symptoms.</p></div><div><h3>Discussion</h3><p>The patient presented with acute quadriparesis devoid of sensory or cranial nerve involvement, suggestive of a variant of Guillain-Barré syndrome (GBS) known as acute motor conduction block neuropathy (AMCBN). Electrophysiological studies have indicated conduction block without demyelination, implicating axonal degeneration. Despite negative findings for common etiologies, the temporal association between omalizumab administration and symptom onset suggests a potential link, supported by criteria for drug-induced illness. Conflicting evidence exists regarding omalizumab's neurological effects, with proposed mechanisms including autoimmune reactions and mast cell dysfunction. Comparisons to TNF-α antagonists highlight similar neuropathy patterns, indicating a need for further research to clarify omalizumab's neurotoxicity.</p></div><div><h3>Conclusion</h3><p>In conclusion, while omalizumab holds promise for allergic conditions, including chronic urticaria, its potential impact on peripheral nerves necessitates vigilance among clinicians. Further studies are imperative to ascertain the risk-benefit profile and elucidate underlying mechanisms and risk factors of neurological complications associated with omalizumab therapy.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"36 ","pages":"Article 100512"},"PeriodicalIF":0.0,"publicationDate":"2024-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000194/pdfft?md5=b804096e2d01e17529386f9194ed4405&pid=1-s2.0-S2405650224000194-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141395216","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}
引用次数: 0
Effects of vaccination on COVID-19 infection symptoms in multiple sclerosis patients 接种疫苗对多发性硬化症患者 COVID-19 感染症状的影响
eNeurologicalSci Pub Date : 2024-06-12 DOI: 10.1016/j.ensci.2024.100511
Parisa Sharifi , Nasim Rezaeimanesh , Amir Moradi , Abdorreza Naser Moghadasi
{"title":"Effects of vaccination on COVID-19 infection symptoms in multiple sclerosis patients","authors":"Parisa Sharifi ,&nbsp;Nasim Rezaeimanesh ,&nbsp;Amir Moradi ,&nbsp;Abdorreza Naser Moghadasi","doi":"10.1016/j.ensci.2024.100511","DOIUrl":"10.1016/j.ensci.2024.100511","url":null,"abstract":"<div><h3>Background</h3><p>Patients with multiple sclerosis (MS) are at higher risk of having infections due to receiving disease modifying therapies. The current study was conducted among Iranian MS patients who had experienced at least one episode of COVID-19 infection in order to evaluate the effects of COVID-19 vaccination on symptoms of their infection. Data on demographic information, MS characteristics, COVID-19 infection details, and vaccination status were collected. Statistical analyses, were performed to evaluate the association between vaccination and symptoms of COVID-19 infection.</p></div><div><h3>Methods</h3><p>This cross-sectional study was conducted on confirmed MS patients. Demographic data and COVID-19 related symptoms were gathered via an online questionnaire. Confirmation of patients' who declared to be vaccinated was checked by their COVID-19 vaccination card.</p></div><div><h3>Results</h3><p>A total of 236 MS patients participated in the study. The majority were female (79.7%), with a mean age of 36.1 ± 7.9 years. Among the participants, 72.5% had received the COVID-19 vaccine before their first episode of COVID-19 infection. The analysis showed a significant difference in the incidence of respiratory symptoms (<em>P</em>-value: 0.01) and headache (P-value: 0.04) between vaccinated and non-vaccinated individuals. Logistic regression analysis revealed that vaccinated MS patients had lower odds of developing respiratory symptoms (OR:0.29, 95% CI: 0.16 to 0.53, <em>P</em>-value&lt;0.001) or headache (OR: 0.50, 95% CI: 0.25 to 0.98, P-value: 0.04) during their next COVID-19 infection episode. Moreover, MS patients who were receiving immunosuppressive drugs were less likely to have respiratory symptoms (OR:0.35, 95% CI: 0.16 to 0.77, <em>P</em>-value:0.009) but not headache (OR: 0.69, 95% CI: 0.30 to 1.60, P-value: 0.39).</p></div><div><h3>Conclusion</h3><p>COVID-19 vaccination can reduce the incidence of respiratory symptoms and headaches in MS patients during COVID-19 infection episodes. Additionally, patients who are receiving immunosuppressive drugs may benefit from COVID-19 vaccination.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"36 ","pages":"Article 100511"},"PeriodicalIF":0.0,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000182/pdfft?md5=10e489228c32598c74a318434d7b8e4c&pid=1-s2.0-S2405650224000182-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141414830","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}
引用次数: 0
A decade with anomic primary progressive aphasia 一个患有原发性进行性失语症的十年
eNeurologicalSci Pub Date : 2024-06-01 DOI: 10.1016/j.ensci.2024.100508
Shoko Ota , Kazuo Kakinuma , Wataru Narita , Yoshiyuki Nishio , Nobuko Kawakami , Ayane Tamagake , Shigenori Kanno , Minoru Matsuda , Kyoko Suzuki
{"title":"A decade with anomic primary progressive aphasia","authors":"Shoko Ota ,&nbsp;Kazuo Kakinuma ,&nbsp;Wataru Narita ,&nbsp;Yoshiyuki Nishio ,&nbsp;Nobuko Kawakami ,&nbsp;Ayane Tamagake ,&nbsp;Shigenori Kanno ,&nbsp;Minoru Matsuda ,&nbsp;Kyoko Suzuki","doi":"10.1016/j.ensci.2024.100508","DOIUrl":"https://doi.org/10.1016/j.ensci.2024.100508","url":null,"abstract":"<div><p>Some patients with primary progressive aphasia (PPA) demonstrate only anomia. The lack of longitudinal observations of anomic PPA precluded us from determining whether progressive anomic aphasia was simply an early stage of semantic or logopenic variants, or a relatively independent variant. Herein, we report the 10-year clinical course of a patient with PPA who presented with pure anomic aphasia for 9 years. He is a right-handed man with anomia, who noticed word-finding difficulty at age 73. He was admitted to the hospital at age 77. On admission, the patient showed pure anomic aphasia with preserved other language function. Episodic memory and visuospatial function were preserved. Magnetic resonance imaging (MRI) revealed left temporal lobe atrophy. At 82 years of age, the patient presented with pure anomic aphasia. At 83 years old, he showed mild impairment in word comprehension and semantic memory, in addition to anomia. MRI demonstrated further atrophy in the bilateral anterior temporal lobes, predominantly on the left side. This case suggests the possibility of slowly progressive, late-onset anomic PPA, which could be differentiated from the early stage of semantic or logopenic variants.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"35 ","pages":"Article 100508"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000157/pdfft?md5=5f14ff35ae069e1058244099cd7eff13&pid=1-s2.0-S2405650224000157-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141291124","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}
引用次数: 0
A case of chronic progressive autoimmune GFAP astrocytopathy with extensive meningoencephalomyelitis and contrast enhancement on MRI 一例慢性进行性自身免疫性 GFAP 星形胶质细胞病,伴有广泛的脑膜脑脊髓炎和核磁共振成像对比增强
eNeurologicalSci Pub Date : 2024-06-01 DOI: 10.1016/j.ensci.2024.100507
Hironori Oka , Takumi Nakamura , Takashi Sugawara , Kunihiko Ishizawa , Masakuni Amari , Takeshi Kawarabayashi , Koichi Okamoto , Masamitsu Takatama , Satoshi Nakata , Yuhei Yoshimoto , Ayako Yamazaki , Hideaki Yokoo , Akio Kimura , Takayoshi Shimohata , Yoshio Ikeda , Mikio Shoji
{"title":"A case of chronic progressive autoimmune GFAP astrocytopathy with extensive meningoencephalomyelitis and contrast enhancement on MRI","authors":"Hironori Oka ,&nbsp;Takumi Nakamura ,&nbsp;Takashi Sugawara ,&nbsp;Kunihiko Ishizawa ,&nbsp;Masakuni Amari ,&nbsp;Takeshi Kawarabayashi ,&nbsp;Koichi Okamoto ,&nbsp;Masamitsu Takatama ,&nbsp;Satoshi Nakata ,&nbsp;Yuhei Yoshimoto ,&nbsp;Ayako Yamazaki ,&nbsp;Hideaki Yokoo ,&nbsp;Akio Kimura ,&nbsp;Takayoshi Shimohata ,&nbsp;Yoshio Ikeda ,&nbsp;Mikio Shoji","doi":"10.1016/j.ensci.2024.100507","DOIUrl":"10.1016/j.ensci.2024.100507","url":null,"abstract":"","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"35 ","pages":"Article 100507"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000145/pdfft?md5=e251a8e330672ec6961b89235e0eb9c3&pid=1-s2.0-S2405650224000145-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141276125","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}
引用次数: 0
A novel SPAST gene splicing variant (c.1617-2A>C) in a heterozygous carrier with hereditary spastic paraplegia 遗传性痉挛性截瘫杂合子携带者的新型 SPAST 基因剪接变异(c.1617-2A>C)
eNeurologicalSci Pub Date : 2024-06-01 DOI: 10.1016/j.ensci.2024.100506
Elvira Sbragia , Andrea Assini , Silvia Calzavara , Paola Carrera , Claudio Marcello Solaro , Emilio Di Maria
{"title":"A novel SPAST gene splicing variant (c.1617-2A>C) in a heterozygous carrier with hereditary spastic paraplegia","authors":"Elvira Sbragia ,&nbsp;Andrea Assini ,&nbsp;Silvia Calzavara ,&nbsp;Paola Carrera ,&nbsp;Claudio Marcello Solaro ,&nbsp;Emilio Di Maria","doi":"10.1016/j.ensci.2024.100506","DOIUrl":"https://doi.org/10.1016/j.ensci.2024.100506","url":null,"abstract":"<div><p>Hereditary spastic paraplegia (HSP) is a group of genetically heterogenous neurodegenerative disorders characterized by progressive spasticity and weakness of lower limbs. We report a novel splicing variant (c.1617-2A&gt;C) of the <em>SPAST</em> gene in a heterozygous carrier from an Italian family with autosomal dominant HSP. The case study describes a pure form of spastic paraparesis with the cardinal clinical features of SPG4. The novel variant affects a canonical splice site and is likely to disrupt RNA splicing. We conclude that the c.1617-2A&gt;C substitution is a null variant, which could be classified as pathogenic; its penetrance should be further investigated.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"35 ","pages":"Article 100506"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000133/pdfft?md5=d94f16d2971e6637b553c0ac7fa778f8&pid=1-s2.0-S2405650224000133-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141244916","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}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信