eNeurologicalSciPub Date : 2024-05-05DOI: 10.1016/j.ensci.2024.100501
Han Su, Jinlu Yu
{"title":"Effect of moyamoya disease on the basilar artery and adjacent arteries on CTA","authors":"Han Su, Jinlu Yu","doi":"10.1016/j.ensci.2024.100501","DOIUrl":"https://doi.org/10.1016/j.ensci.2024.100501","url":null,"abstract":"<div><h3>Background</h3><p>Computed tomographic angiography (CTA) is rarely used to explore the effect of moyamoya disease (MMD) on the basilar artery (BA) and its adjacent arteries.</p></div><div><h3>Methods</h3><p>Participants were divided into a control group and an MMD group. The relevant parameters were measured. Statistical analyses included the <em>t-</em>test, chi-squared test, and linear regression analysis.</p></div><div><h3>Results</h3><p>In the control group of 100 healthy people, the average age was 54.51 ± 13.40 years, and the ratio of males to females was 0.89:1. In the MMD group of 100 patients, the average age was 53.95 ± 11.31 years, and the ratio of males to females was 1.13:1. In the MMD group, the CTA score of the anterior circulation of the bilateral hemispheres was 7.57 ± 2.36. According to the statistical analyses, (1) in the control group, the BA apex tended to lean to the right in healthy participants; (2) in the MMD group, the BA was closer to the midline, and the angle between the BA and anterior inferior cerebellar artery was reduced, indicating that the BA was relatively elevated; (3) in the MMD group, the diameters of the BA, PCA and vertebral artery were larger than those in the control group; and (4) MMD patients with posterior cerebral atery (PCA) involvement had higher CTA scores of the anterior circulation.</p></div><div><h3>Conclusions</h3><p>MMD can cause the BA to move toward the midline and upward and enlarge major vessels of the posterior circulation. The PCA tends to be involved in MMD patients with higher CTA scores in the anterior circulation.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"35 ","pages":"Article 100501"},"PeriodicalIF":0.0,"publicationDate":"2024-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S240565022400008X/pdfft?md5=67c4bf479c3d9b91402e14f24011a820&pid=1-s2.0-S240565022400008X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140894726","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}
eNeurologicalSciPub Date : 2024-05-04DOI: 10.1016/j.ensci.2024.100502
Emmeline Lagrange , Marie-Anne Loriot , Nirmal K. Chaudhary , Pam Schultz , Alden C. Dirks , Claire Guissart , Timothy Y. James , Jean Paul Vernoux , William Camu , Ashootosh Tripathi , Peter S. Spencer
{"title":"Corrected speciation and gyromitrin content of false morels linked to ALS patients with mostly slow-acetylator phenotypes","authors":"Emmeline Lagrange , Marie-Anne Loriot , Nirmal K. Chaudhary , Pam Schultz , Alden C. Dirks , Claire Guissart , Timothy Y. James , Jean Paul Vernoux , William Camu , Ashootosh Tripathi , Peter S. Spencer","doi":"10.1016/j.ensci.2024.100502","DOIUrl":"https://doi.org/10.1016/j.ensci.2024.100502","url":null,"abstract":"<div><p>A case-control study of sporadic amyotrophic lateral sclerosis (ALS) in a mountainous village in the French Alps discovered an association of cases with a history of eating wild fungi (false morels) collected locally and initially identified and erroneously reported as <em>Gyromitra gigas</em>. Specialist re-examination of dried specimens of the ALS-associated fungi demonstrated they were members of the <em>G. esculenta</em> group, namely <em>G. venenata and G. esculenta</em>, species that have been reported to contain substantially higher concentrations of gyromitrin than present in <em>G. gigas</em>. Gyromitrin is metabolized to monomethylhydrazine, which is responsible not only for the acute oral toxic and neurotoxic properties of false morels but also has genotoxic potential with proposed mechanistic relevance to the etiology of neurodegenerative disease. Most ALS patients had a slow- or intermediate-acetylator phenotype predicted by <em>N</em>-<em>acetyltransferase-2</em> (<em>NAT2</em>) genotyping, which would increase the risk for neurotoxic and genotoxic effects of gyromitrin metabolites.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"35 ","pages":"Article 100502"},"PeriodicalIF":0.0,"publicationDate":"2024-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000091/pdfft?md5=231df55a2f3753843b5a754b652900a7&pid=1-s2.0-S2405650224000091-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140906145","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}
eNeurologicalSciPub Date : 2024-04-13DOI: 10.1016/j.ensci.2024.100500
Yoya Ono , Kenjiro Kunieda , Jun Takada , Takayoshi Shimohata
{"title":"Distal oesophageal spasm in a patient with multiple system atrophy: A case report","authors":"Yoya Ono , Kenjiro Kunieda , Jun Takada , Takayoshi Shimohata","doi":"10.1016/j.ensci.2024.100500","DOIUrl":"https://doi.org/10.1016/j.ensci.2024.100500","url":null,"abstract":"<div><p>A 74-year-old man developed orthostatic syncope, a feeling of food stuck in his chest, and postprandial vomiting 3 years before presentation. Examination revealed severe orthostatic hypotension and cerebellar ataxia, and he was diagnosed with multiple system atrophy (MSA) with predominant cerebellar ataxia. Videofluoroscopic examination of swallowing showed lower oesophageal stricture and barium stagnation within the oesophagus. Oesophagogastroduodenoscopy revealed hypercontraction of the lower oesophagus, and high-resolution oesophageal manometry showed premature contractions of the lower oesophagus and decreased oesophageal peristalsis. The median integrated relaxation pressure in the lower oesophageal sphincter was normal, and achalasia was therefore excluded. Based on the Chicago classification version 4.0, his oesophageal dysmotility was classified as distal oesophageal spasm (DES). The stuck feeling in his chest and vomiting improved following endoscopic balloon dilation. This case suggests that DES can cause oesophageal food stagnation and postprandial vomiting in patients with MSA.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"35 ","pages":"Article 100500"},"PeriodicalIF":0.0,"publicationDate":"2024-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000078/pdfft?md5=d784f56740a10ab325bda1eed62e4f60&pid=1-s2.0-S2405650224000078-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140552362","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}
eNeurologicalSciPub Date : 2024-04-06DOI: 10.1016/j.ensci.2024.100499
Abeer Sabry Safan , Zeba Noorain , Mohamed A. Atta , Razna Thekkoth , Aasir M. Suliman , Abdalrazig Fadlelmula , Mohammed Abdelatey
{"title":"CASE REPORT: Fulminant acute hemorrhagic Leukoencephalitis (AHLE): A rare and ruinous outcome with cerebral herniation (COVID-19)","authors":"Abeer Sabry Safan , Zeba Noorain , Mohamed A. Atta , Razna Thekkoth , Aasir M. Suliman , Abdalrazig Fadlelmula , Mohammed Abdelatey","doi":"10.1016/j.ensci.2024.100499","DOIUrl":"https://doi.org/10.1016/j.ensci.2024.100499","url":null,"abstract":"<div><h3>Background</h3><p>Acute hemorrhagic leukoencephalitis (AHLE) is a very rare demyelinating disease with rapid fulminant inflammation of the white matter. Although the exact etiology is unknown, AHLE usually manifests post a viral or bacterial infection and less often seen post vaccination for measles or rabies. AHLE has a very poor prognosis and a high mortality rate. Owing to the rarity of this entity there is not clear consensus on the proper line of management. In this report, we present a case of AHLE as a para-infectious sequel to COVID-19 in a young patient.</p></div><div><h3>Clinical presentation</h3><p>We report a 30-year-old turkish patient with an initial presentation of upper respiratory tract infection due to COVID-19. Initially, she was admitted to the hospital with generalized tonic-clonic seizure (GTCS) and deterioration in her level of consciousness lapsing into a coma. An initial CT scan showed diffuse brain edema and an MRI head confirmed the suspicion of Acute hemorrhagic leukoencephalitis (AHLE). Despite prompt and diligent osmotic therapy and pulsed intravenous (IV) methylprednisolone, her condition rapidly depreciated and progressed into cerebral edema with gravid sequela of brainstem herniation.</p></div><div><h3>Conclusions</h3><p>AHLE is a very rare entity and perhaps its fulminant debilitating course and high mortality should warrant further studies on disease pathophysiology and its optimal treatment parameters. Life-saving decompressive hemicraniectomy should be considered in the multidisciplinary approach of the management with tailored osmotic and immunotherapy.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"35 ","pages":"Article 100499"},"PeriodicalIF":0.0,"publicationDate":"2024-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000066/pdfft?md5=f2161da2075db427432f206bb74928f5&pid=1-s2.0-S2405650224000066-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140543973","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}
eNeurologicalSciPub Date : 2024-03-20DOI: 10.1016/j.ensci.2024.100498
Roberto Tedeschi
{"title":"“Transcranial direct current stimulation for chronic foot pain: A comprehensive review”","authors":"Roberto Tedeschi","doi":"10.1016/j.ensci.2024.100498","DOIUrl":"https://doi.org/10.1016/j.ensci.2024.100498","url":null,"abstract":"<div><h3>Background</h3><p>Chronic foot pain, including conditions such as plantar fasciitis, presents a significant challenge to patients and healthcare providers. Traditional treatments often offer limited relief, prompting exploration of alternative therapies. Transcranial direct current stimulation (tDCS) has emerged as a noninvasive brain stimulation technique with potential for alleviating chronic pain syndromes.</p></div><div><h3>Methods</h3><p>A review was conducted following the JBI methodology and adhering to PRISMA guidelines. Searches were performed in databases including MEDLINE, Cochrane Central, Scopus, and PEDro, supplemented by grey literature sources and expert consultations. Studies were included if they investigated tDCS as an intervention for chronic foot pain, assessed its efficacy, safety, or mechanisms of action, and were published in English.</p></div><div><h3>Results</h3><p>A total of three papers were included in the review. The findings indicate that tDCS holds promise for managing chronic foot pain, including plantar fasciitis. Main results suggest significant reductions in pain intensity and improvements in related outcomes following tDCS treatment.</p></div><div><h3>Conclusions</h3><p>This review underscores the potential of tDCS as an alternative therapy for severe lower-extremity pain, highlighting the need for further research to optimize its parameters and long-term effects. tDCS emerges as a promising neuromodulation approach for chronic foot pain management, offering insights for enhancing patient outcomes and quality of life.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"35 ","pages":"Article 100498"},"PeriodicalIF":0.0,"publicationDate":"2024-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000054/pdfft?md5=0a26cdebe6f237a2349933d26c5ad9bc&pid=1-s2.0-S2405650224000054-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140191060","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":"Phenotypic variability in a large kindred with spastic paraplegia associated with a novel REEP1 variant","authors":"Helgi Thor Hjartarson , Humberto Skott , Tobias Granberg , Martin Paucar","doi":"10.1016/j.ensci.2024.100497","DOIUrl":"https://doi.org/10.1016/j.ensci.2024.100497","url":null,"abstract":"<div><h3>Background and objectives</h3><p>The aim of this study is to provide a comprehensive characterization of a large Estonian family spanning five generations with seventeen individuals affected by spastic paraplegia associated with a novel variant in the receptor expression-enhancing protein-1 (<em>REEP1</em>) gene.</p></div><div><h3>Methods</h3><p>Comprehensive clinical evaluation, neuroimaging, and neurophysiological studies were performed on six patients who provided oral and written consent. Whole-exome sequencing was performed on the index case. Targeted carrier testing was done in all other available affected and at-risk relatives.</p></div><div><h3>Results</h3><p>Four individuals presented with pure spastic paraplegia, with onset from early childhood to adult age. None had bladder or bowel dysfunction. Two subjectively asymptomatic mutation carriers displayed pyramidal signs on examination. Imaging of the neuroaxis was normal in three patients, three had MRI findings interpreted as unrelated. Motor evoked potential (MEP) was abnormal in five; the patient with the longest disease duration had additional somatosensory evoked potential (SSEP) abnormalities. The novel splice-site variant, c.32 + 1G > C in the <em>REEP1</em> gene, found in the index case, co-segregates with disease in the family. Expressivity in this family is variable.</p></div><div><h3>Conclusion</h3><p>Our findings are in keeping with previous descriptions of the SPG31 spectrum. The phenotype associated with splice variants is not necessarily more severe than other conventional <em>REEP1</em> variants. As for other forms of familial spastic paraplegias, the factors modulating variable expressivity in SPG31 are still unknown.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"35 ","pages":"Article 100497"},"PeriodicalIF":0.0,"publicationDate":"2024-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000042/pdfft?md5=21544f22e474bf3b01accab040c0134b&pid=1-s2.0-S2405650224000042-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140138095","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}
eNeurologicalSciPub Date : 2024-01-28DOI: 10.1016/j.ensci.2024.100495
Dante J. Bellai, Mark G. Rae
{"title":"A systematic review of the association between the age of onset of spinal bulbar muscular atrophy (Kennedy's disease) and the length of CAG repeats in the androgen receptor gene","authors":"Dante J. Bellai, Mark G. Rae","doi":"10.1016/j.ensci.2024.100495","DOIUrl":"https://doi.org/10.1016/j.ensci.2024.100495","url":null,"abstract":"<div><h3>Introduction</h3><p>Spinal bulbar muscular atrophy (SBMA) is an X-linked recessive motor neuron disorder caused by the presence of ≥38 CAG repeats in the androgen receptor gene. Existing literature indicates a relationship between CAG repeat number and the onset age of some motor symptoms of SBMA. This review explores the effect of larger <em>versus</em> shorter CAG repeats on the age of weakness onset in male SBMA patients.</p></div><div><h3>Methods</h3><p>Three databases (October 2021; MEDLINE, SCOPUS, and Web of Science), Cambridge University Press, and Annals of Neurology were searched. 514 articles were initially identified, of which 13 were included for qualitative synthesis.</p></div><div><h3>Results</h3><p>Eleven of the thirteen articles identified a statistically significant inverse correlation between CAG repeat length and age of weakness onset in SBMA. Five studies indicated that SBMA patients with between 35 and 37 CAG repeats had an older age of weakness onset than patients with over 40 CAG repeats. The minimum number of CAG repeats associated with weakness was in the mid-to-late thirties.</p></div><div><h3>Conclusion</h3><p>Identification of a relationship between CAG repeat number and age of weakness may enable earlier detection and intervention for SBMA. In the future, studies should use interviews, chart reviews, and standardized scoring methods to reduce effects of retrospective bias.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"34 ","pages":"Article 100495"},"PeriodicalIF":0.0,"publicationDate":"2024-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000029/pdfft?md5=1bd8fd97e0f75f0ca6dfa3ec424a4b0b&pid=1-s2.0-S2405650224000029-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139653350","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}
eNeurologicalSciPub Date : 2024-01-09DOI: 10.1016/j.ensci.2024.100494
Rajesh Verma, Rajarshi Chakraborty
{"title":"Behr's syndrome mimicking a case of hereditary spastic paraparesis","authors":"Rajesh Verma, Rajarshi Chakraborty","doi":"10.1016/j.ensci.2024.100494","DOIUrl":"https://doi.org/10.1016/j.ensci.2024.100494","url":null,"abstract":"","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"34 ","pages":"Article 100494"},"PeriodicalIF":0.0,"publicationDate":"2024-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000017/pdfft?md5=ba812dcf7ebf19ca388af5c7c5e5079f&pid=1-s2.0-S2405650224000017-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139433598","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":"Effect of istradefylline on postural abnormalities in patients with Parkinson's disease: An association study of baseline postural angle measurements with changes in Unified Dystonia Rating Scale total score","authors":"Makio Takahashi , Toshio Shimokawa , Jinsoo Koh , Takao Takeshima , Hirofumi Yamashita , Yoshinori Kajimoto , Hidefumi Ito","doi":"10.1016/j.ensci.2023.100493","DOIUrl":"https://doi.org/10.1016/j.ensci.2023.100493","url":null,"abstract":"<div><p>In our previous study, istradefylline treatment in patients with Parkinson's disease (PD) improved postural abnormalities (PAs), as seen from a decrease in the mean Unified Dystonia Rating Scale (UDRS) total score from week 0 to week 24. A subgroup analysis based on baseline clinical characteristics investigated the association between improvement in the UDRS total score and istradefylline treatment. However, the association between an objective assessment of PAs and improvement in the UDRS total score is unclear. This ad hoc analysis investigated the association between improvement in the UDRS total score after istradefylline treatment and baseline trunk and neck angles, objective assessments of PAs, measured from patients' photographs taken in the previous study. The patients (<em>n</em> = 31) were stratified into groups based on the trunk forward flexion angle (TFFA), trunk lateral flexion angle (TLFA), and neck flexion angle (NFA) values at baseline. From week 0 to week 24, significant improvements in the UDRS total score were found in median percent change (−8.33% [interquartile range: −43.97, 0.00], <em>P</em> = 0.039) in patients with equal to or above the median TFFA values, and in median change (−1.50 [−9.25, 0.00], <em>P</em> = 0.015) and median percent change (−13.33% [−50.47, 0.00], <em>P</em> = 0.009) in patients with equal to or above the median TLFA values. Patients with more advanced PAs showed more consistent improvements in the UDRS total score with istradefylline. Baseline TFFA and TLFA values, which are objective values, may be useful to assess the istradefylline effectiveness in patients with PD and PAs.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"34 ","pages":"Article 100493"},"PeriodicalIF":0.0,"publicationDate":"2023-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650223000515/pdfft?md5=b36a230611fde99de939b0c93580ceb0&pid=1-s2.0-S2405650223000515-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139100500","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}