International Journal of Neuroscience最新文献_第7页

Association of 11 variants of the dopaminergic and cognitive pathways genes with major depression, schizophrenia and bipolar disorder in the Pakistani population. 巴基斯坦人群中11种多巴胺能和认知途径基因变异与重度抑郁症、精神分裂症和双相情感障碍的关联

IF 1.7 4区医学

International Journal of Neuroscience Pub Date : 2024-11-01 Epub Date: 2023-12-04 DOI: 10.1080/00207454.2023.2251661

Aisha Nasir Hashmi, Merlyn Sabina Raja, Rizwan Taj, Raees Ahmed Dharejo, Zehra Agha, Raheel Qamar, Maleeha Azam

{"title":"Association of 11 variants of the dopaminergic and cognitive pathways genes with major depression, schizophrenia and bipolar disorder in the Pakistani population.","authors":"Aisha Nasir Hashmi, Merlyn Sabina Raja, Rizwan Taj, Raees Ahmed Dharejo, Zehra Agha, Raheel Qamar, Maleeha Azam","doi":"10.1080/00207454.2023.2251661","DOIUrl":"10.1080/00207454.2023.2251661","url":null,"abstract":"Background: The dopaminergic pathways control neural signals that modulate mood and behaviour along and have a vital role in the aetiology of major depression (MDD), schizophrenia (SHZ) and bipolar disorder (BD). Genome-wide association studies (GWAS) have reported several dopaminergic and cognitive pathway genes association with these disorders however, no such comprehensive data was available regarding the Pakistani population.Objective: The present study was conducted to analyse the 11 genetic variants of dopaminergic and cognitive system genes in MDD, SHZ, and BD in the Pakistani population.Methods: A total of 1237 subjects [MDD n = 479; BD n = 222; SHZ n = 146; and controls n = 390], were screened for 11 genetic variants through polymerase chain reaction (PCR) techniques. Univariant followed by multivariant logistic regression analysis was applied to determine the genetic association.Results: Significant risk associations were observed for rs4532 and rs1799732 with MDD; and rs1006737 and rs2238056 with BD. However, after applying multiple test corrections rs4532 and rs1799732 association did not remain significant for MDD. Moreover, a protective association was found for three variants; DRD4-120bp, rs10033951 and rs2388334 in the current cohort.Conclusions: The present study revealed the risk association of single nucleotide polymorphisms (SNPs) rs1006737 and rs2238056 with BD and the protective effect of the DRD4-120bp variant in MDD and BD, of rs2388334 in BD and of rs10033951 in MDD, BD, and SHZ in the current Pakistani cohort. Thus, the study is valuable in understanding the genetic basis of MDD, BD and SHZ in the Pakistani population, which may pave the way for future functional studies.","PeriodicalId":14161,"journal":{"name":"International Journal of Neuroscience","volume":" ","pages":"1172-1184"},"PeriodicalIF":1.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10109388","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}

引用次数: 0

Effect of donepezil hydrochloride on the transgenic Drosophila expressing human Aβ-42. 盐酸多奈哌齐对表达人Aβ-42的转基因果蝇的影响。

IF 1.7 4区医学

International Journal of Neuroscience Pub Date : 2024-11-01 Epub Date: 2023-11-21 DOI: 10.1080/00207454.2023.2262109

Yasir Hasan Siddique, Falaq Naz, Rahul, Himanshi Varshney, Mantasha Idrisi, M Shahid

{"title":"Effect of donepezil hydrochloride on the transgenic Drosophila expressing human Aβ-42.","authors":"Yasir Hasan Siddique, Falaq Naz, Rahul, Himanshi Varshney, Mantasha Idrisi, M Shahid","doi":"10.1080/00207454.2023.2262109","DOIUrl":"10.1080/00207454.2023.2262109","url":null,"abstract":"Aim: In the present study, the effect of donepezil hydrochloride was studied on the transgenic Drosophila expressing human amyloid beta-42 in the neurons.Methods: Donepezil hydrochloride at final concentration of 0.1, 1 and 10 mM was mixed in the diet and the flies expressing human amyloid beta-42 under Upstream Activation Sequence control (Alzheimer Disease [AD] flies) were allowed to feed on it for 30 days.Results: The AD flies exposed to various doses of Donepezil hydrochloride showed a dose dependent significant delay in the loss of climbing ability, increase in activity, reduction in the oxidative stress and apoptotic markers. A significant improvement was also observed in cognitive parameters. A dose dependent significant reduction in the activity of acetylcholinesterase was also observed. The docking studies suggest the positive interaction between donepezil, amyloid beta-42 and acetylcholinesterase. The results obtained from immunohistochemistry also showed a dose dependent significant reduction in the amyloid beta-42 aggregates.Conclusion: The results suggest that donepezil hydrochloride is potent enough to reduce the AD symptoms being mimicked in transgenic flies.","PeriodicalId":14161,"journal":{"name":"International Journal of Neuroscience","volume":" ","pages":"1293-1308"},"PeriodicalIF":1.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41125972","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}

引用次数: 0

Stroke-like onset of calcified brain metastases with Wallerian degeneration: a case report and review of the literature. 伴有Wallerian变性的钙化脑转移瘤的卒中样发作：一例病例报告和文献复习。

IF 1.7 4区医学

International Journal of Neuroscience Pub Date : 2024-11-01 Epub Date: 2023-09-24 DOI: 10.1080/00207454.2023.2262107

Yejia Mo, Yinxi Zhang, Liying Zhuang, Junjun Wang, Sicheng Yan, Yaguo Li, Song Qiao, Qilun Lai

{"title":"Stroke-like onset of calcified brain metastases with Wallerian degeneration: a case report and review of the literature.","authors":"Yejia Mo, Yinxi Zhang, Liying Zhuang, Junjun Wang, Sicheng Yan, Yaguo Li, Song Qiao, Qilun Lai","doi":"10.1080/00207454.2023.2262107","DOIUrl":"10.1080/00207454.2023.2262107","url":null,"abstract":"Introduction: Metastatic brain tumors are a common complication of systemic cancer. They tend to have a chronic onset and are located at the gray-white junction of the cerebral hemispheres, those larger than 9.4 mm in diameter are often accompanied by substantial vasogenic edema. Herein, we report a rare case of calcified metastatic adenocarcinoma with Wallerian degeneration. In addition, we discuss the atypical manifestations of brain metastases.Case report: A 71-year-old man who went through stroke-like onset twice during 8 months with a history of resection of the left pulmonary adenocarcinoma 5 years prior was examined. Diffusion weighted magnetic resonance imaging of the brain showed an enlarged open-ring-shaped hyperintensity on the left periventricular white matter and basal ganglia, with Wallerian degeneration on the left cerebral peduncle. Brain computed tomography revealed nodular calcification of the lesion. The pathology of stereotactic biopsy indicated metastatic adenocarcinoma.Conclusion: When patients present with acute nervous system symptoms and a previous history of cancer, the possibility of metastases should be considered, even if neuroimaging is atypical.","PeriodicalId":14161,"journal":{"name":"International Journal of Neuroscience","volume":" ","pages":"1288-1292"},"PeriodicalIF":1.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41141574","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}

引用次数: 0

Impact of the severity of brain injury on secondary adrenal insufficiency in traumatic brain injury patients and the influence of HPA axis dysfunction on prognosis. 脑损伤严重程度对创伤性脑损伤患者继发性肾上腺功能不全的影响以及HPA轴功能障碍对预后的影响。

IF 1.7 4区医学

International Journal of Neuroscience Pub Date : 2024-11-01 Epub Date: 2023-11-17 DOI: 10.1080/00207454.2023.2280450

Dongping Li, Jianhui Chen, Chunfa Weng, Xiaohai Huang

{"title":"Impact of the severity of brain injury on secondary adrenal insufficiency in traumatic brain injury patients and the influence of HPA axis dysfunction on prognosis.","authors":"Dongping Li, Jianhui Chen, Chunfa Weng, Xiaohai Huang","doi":"10.1080/00207454.2023.2280450","DOIUrl":"10.1080/00207454.2023.2280450","url":null,"abstract":"Objective: To investigate secondary adrenal insufficiency post varying traumatic brain injuries' and its impact on prognosis.Methods: 120 traumatic brain injury patients were categorized into mild, moderate and severe groups based on Glasgow Coma Scale. Adrenal function was evaluated through testing.Results: Secondary adrenal insufficiency rates were 0% (mild), 22.85% (moderate) and 44.82% (severe). Hypothalamus-pituitary-adrenal axis dysfunction rates were 14.81% (mild), 42.85% (moderate) and 63.79% (severe). Differences among groups were significant (p < .05). Patients with intact hypothalamus-pituitary-adrenal axis had shorter hospital stays and higher Glasgow Coma Scale scores. Receiver operating characteristic analysis of 24-h urinary free cortisol showed an area of 0.846, with a 17.62 μg/24h cutoff, 98.32% sensitivity and 52.37% specificity. In the low-dose adrenocorticotropic hormone test, with an 18 μg/dL cutoff, the receiver operating characteristic area was 0.546, with 46.28% sensitivity and 89.39% specificity.Conclusion: As traumatic brain injury severity increases, secondary adrenal insufficiency incidence rises. The low-dose adrenocorticotropic hormone test is promising for hypothalamus-pituitary-adrenal axis evaluation. Patients with hypothalamus-pituitary-adrenal dysfunction experience prolonged hospitalization and worse prognosis.","PeriodicalId":14161,"journal":{"name":"International Journal of Neuroscience","volume":" ","pages":"1414-1423"},"PeriodicalIF":1.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71481422","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}

引用次数: 0

Carvacrol improved learning and memory and attenuated the brain tissue oxidative damage in aged male rats. 香芹酚改善了老年雄性大鼠的学习和记忆能力，减轻了脑组织氧化损伤。

IF 1.7 4区医学

International Journal of Neuroscience Pub Date : 2024-11-01 Epub Date: 2023-09-14 DOI: 10.1080/00207454.2023.2257877

Mohammad Amin Forqani, Mahsan Akbarian, Sabiheh Amirahmadi, Mohammad Soukhtanloo, Mahmoud Hosseini, Fatemeh Forouzanfar

{"title":"Carvacrol improved learning and memory and attenuated the brain tissue oxidative damage in aged male rats.","authors":"Mohammad Amin Forqani, Mahsan Akbarian, Sabiheh Amirahmadi, Mohammad Soukhtanloo, Mahmoud Hosseini, Fatemeh Forouzanfar","doi":"10.1080/00207454.2023.2257877","DOIUrl":"10.1080/00207454.2023.2257877","url":null,"abstract":"Introduction: Aging is an unavoidable process in the body that is accompanied by impaired tissue homeostasis and various changes. Carvacrol has attracted considerable attention for its wide range of pharmacological activities. Therefore, this study attempted to explore the protective effect of carvacrol in aged rats.Materiel and methods: The aged rats were given carvacrol (15 or 30 mg/kg/day) for 4 weeks. Morris water maze and passive avoidance tests were used to determine the learning and memory abilities of the rats. The hippocampus and cortex samples were taken for biochemical analysis.Results: In comparison to young control rats, aged control rats showed learning and memory deficits. There was improvement in the Morris water navigation test and passive avoidance test performance in the treatment groups versus the aged control group. An increment in malondialdehyde (MDA) and a decrease in total thiol groups in the hippocampus and cortex samples of aged control rats in comparison to the young control group were observed. Carvacrol decreased MDA levels and increased total thiol groups in the hippocampus and cortex samples of aged rats.Conclusion: Carvacrol improved learning and memory in aged rats, probably through its anti-oxidation effects.","PeriodicalId":14161,"journal":{"name":"International Journal of Neuroscience","volume":" ","pages":"1242-1249"},"PeriodicalIF":1.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10233269","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}

引用次数: 0

Epidural spinal cord stimulation can facilitate ejaculatory response in spinal cord injury individuals: a report of two cases. 硬膜外脊髓刺激能促进脊髓损伤个体的射精反应:两例报告。

IF 1.7 4区医学

International Journal of Neuroscience Pub Date : 2024-11-01 Epub Date: 2023-10-25 DOI: 10.1080/00207454.2023.2273772

Vojtech Rybka, Kristyna Sediva, Lenka Spackova, Pavel Kolar, Ondrej Bradac, Jiri Kriz

{"title":"Epidural spinal cord stimulation can facilitate ejaculatory response in spinal cord injury individuals: a report of two cases.","authors":"Vojtech Rybka, Kristyna Sediva, Lenka Spackova, Pavel Kolar, Ondrej Bradac, Jiri Kriz","doi":"10.1080/00207454.2023.2273772","DOIUrl":"10.1080/00207454.2023.2273772","url":null,"abstract":"Background: The recovery of autonomic functions and the ability to reproduce in particular is of the highest priority to individuals with spinal cord injury (SCI). The potential of epidural spinal cord stimulation (ESCS) for promoting recovery of sensorimotor functions in the chronic phase of SCI has long been studied. In recent years, several studies have emerged confirming the positive effect of ESCS also on the cardiovascular system and neurogenic bladder and bowel. However, the potential of ESCS in restoring sexual function, especially ejaculation, has not yet been addressed.Case report: Two cases of people with chronic sensorimotor complete SCI in the 4th thoracic spinal segment are presented. Both men were also diagnosed with severe erectile dysfunction and anejaculation. Thanks to ESCS, Participant 1 successfully restored the ejaculatory reflex using PVS in his home environment. His outcome was subsequently verified under clinical conditions. During ESCS, Participant 1 was also able to achieve ejaculation by masturbation; moreover, he conceived a child naturally without the need for IVF. In Participant 2, we then demonstrated the same effect of ESCS on the restoration of the ejaculatory reflex when targeting the stimulation to the same spinal segment.Conclusion: This is the first report on the potential of ESCS for restoring the ability to ejaculate in individuals with complete SCI. Confirmation of these results could significantly reduce the need for assisted reproduction and improve the quality of life of men after SCI in the future.","PeriodicalId":14161,"journal":{"name":"International Journal of Neuroscience","volume":" ","pages":"1357-1364"},"PeriodicalIF":1.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50157898","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}

引用次数: 0

Case report: Hyponatremia is an initial presentation of Neuromyelitis optica spectrum disorder. 病例报告:低钠血症是视神经脊髓炎谱系障碍的最初表现。

IF 1.7 4区医学

International Journal of Neuroscience Pub Date : 2024-11-01 Epub Date: 2023-11-30 DOI: 10.1080/00207454.2023.2277666

Huaxing Meng, Jing Wang, Jiaqi Hou, Ruiqin Liu, Meini Zhang

{"title":"Case report: Hyponatremia is an initial presentation of Neuromyelitis optica spectrum disorder.","authors":"Huaxing Meng, Jing Wang, Jiaqi Hou, Ruiqin Liu, Meini Zhang","doi":"10.1080/00207454.2023.2277666","DOIUrl":"10.1080/00207454.2023.2277666","url":null,"abstract":"Objective: Neuromyelitis optica spectrum disorders (NMOSD) is often misdiagnosed or delayed because of the complex and diverse clinical manifestations, especially the atypical initial presentation. Hyponatremia can be an infrequently isolated initial presentation of NMOSD and is associated with hypothalamus involvement. Awareness of this mechanism will help clinicians to identify NMOSD early, treat it in time and improve the prognosis.Methods: We describe a 36-year-old woman who developed repeated hyponatremia and then experienced diplopia. Serum AQP4, MOG, MBP and GFAP antibody were detected, and NMOSD was finally diagnosed.Results: She responded well to high-dose glucocorticoids. Sequential treatment with mycophenolate mofetil (MMF) was prescribed. Two-month follow-up revealed full recovery. So far, after 10 months, the patient still has no recurrence.Conclusion: For young patients, repeated hyponatremia, with or without slight fever, and no evidence of obvious infection, brain magnetic resonance imaging (MRI) and serum AQP4/MOG antibody detection may be useful to determine whether there is a possibility of NMOSD.","PeriodicalId":14161,"journal":{"name":"International Journal of Neuroscience","volume":" ","pages":"1399-1402"},"PeriodicalIF":1.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138451449","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}

引用次数: 0

Effect of thymectomy on the frequencies of peripheral regulatory B and T lymphocytes in patients with Myasthenia gravis-a pilot study. 胸腺切除术对重症肌无力患者外周血调节性B淋巴细胞和T淋巴细胞频率的影响——一项初步研究。

IF 1.7 4区医学

International Journal of Neuroscience Pub Date : 2024-11-01 Epub Date: 2023-09-09 DOI: 10.1080/00207454.2023.2254922

Shanshan Yu, Jingjun Yan, Yu Fang, Yan Ye, Bitao Bu

{"title":"Effect of thymectomy on the frequencies of peripheral regulatory B and T lymphocytes in patients with Myasthenia gravis-a pilot study.","authors":"Shanshan Yu, Jingjun Yan, Yu Fang, Yan Ye, Bitao Bu","doi":"10.1080/00207454.2023.2254922","DOIUrl":"10.1080/00207454.2023.2254922","url":null,"abstract":"Aim: We aimed to investigate the relationship between the peripheral lymphocyte subset frequency and thymectomy in patients with myasthenia gravis (MG).Materials and methods: The frequencies of regulatory B (Breg) and regulatory T (Treg) cells in peripheral blood samples obtained from 69 patients with MG and 10 healthy controls were analyzed using flow cytometry. Serum acetylcholine receptor antibodies (AchR-Ab) were measured. Patients with MG were subdivided into pre-thymectomy, post-thymectomy, and normal thymus control group.Results: The percentage of Breg cells was significantly decreased in both the pre-thymectomy (7.92 ± 1.30%) and post-thymectomy (8.14 ± 1.34%) groups compared to healthy controls (16.02 ± 2.78%) and reduced in the exacerbation and relapse phase compared to the stable maintenance stage. The proportion of cluster of differentiation (CD) 4 + CD25 + T cells and CD4 + CD25 + CD127low/- Treg cells in MG patients were not significantly different than healthy controls. AchR-Ab titers in aggravating or recurrence patients after thymectomy were significantly higher than that of the stable remission patients (11.13 ± 0.70 and 6.03 ± 0.85 nmol/L, respectively; p < 0.001).Conclusion: The frequency of Breg cells may serve as a potential indicator of MG prognosis, while Treg cell frequency did not demonstrate the same prognostic ability. The concentration of AchR-Ab can be used as a dynamic monitoring index of disease severity in patients with MG.","PeriodicalId":14161,"journal":{"name":"International Journal of Neuroscience","volume":" ","pages":"1210-1219"},"PeriodicalIF":1.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10538626","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}

引用次数: 0

Isolated unilateral oculomotor palsy caused by pure midbrain infarction: a case report. 单纯性中脑梗死引起的孤立性单侧动眼神经麻痹1例报告。

IF 1.7 4区医学

International Journal of Neuroscience Pub Date : 2024-11-01 Epub Date: 2023-10-03 DOI: 10.1080/00207454.2023.2264479

Zhu-Ling Chen, Shi-Guo Zhu, Rong-Pei Liu, Lu-Lu Ma, Jian Cui, Guo-Ling Zeng, Xiong Zhang, Jian-Yong Wang, Shi-Shi Huang

引用次数: 0

A case report of concurrent occurrence of two inherited axonopathies within a family: the benefit of whole-exome sequencing. 一个家族中同时发生两种遗传性轴突病的病例报告：全外显子组测序的益处。

IF 1.7 4区医学

International Journal of Neuroscience Pub Date : 2024-11-01 Epub Date: 2023-09-21 DOI: 10.1080/00207454.2023.2260091

Zahra Sadr, Mohammad Rohani, Payman Jamali, Afagh Alavi

{"title":"A case report of concurrent occurrence of two inherited axonopathies within a family: the benefit of whole-exome sequencing.","authors":"Zahra Sadr, Mohammad Rohani, Payman Jamali, Afagh Alavi","doi":"10.1080/00207454.2023.2260091","DOIUrl":"10.1080/00207454.2023.2260091","url":null,"abstract":"Mutations in ERLIN2 and MFN2 lead to the development of spastic paraplegia-18 (SPG18) and Charcot-Marie-Tooth type-2A (CMT2A), respectively. These disorders are unified by the fact that both can be termed inherited axonopathies. With whole-exome sequencing (WES), more patients of neurological disorders with clinical overlaps receive a genetic result than ever before. This study describes an Iranian family who harbor mutations in ERLIN2 and MFN2, simultaneously. The proband was a 73-year old man who has experienced weakness and spasticity of lower limbs since late childhood. He was diagnosed with hereditary spastic paraplegia (HSP). His WES identified a novel homozygous variant in ERLIN2 as well as a known heterozygous variant in MFN2. These variants were cosegregated with the phenotypes among the family members. His sister with a similar phenotype just carried the homozygous ERLIN2 variant, whereas, his asymptomatic brother and daughter carried the heterozygous variant of MFN2. Re-evaluation of the MFN2 variant carriers by nerve conduction study revealed that only the proband's daughter has peripheral neuropathy. Herein, using WES two distinct disease-causing variants with different modes of inheritance in ERLIN2 and MFN2 were detected in the proband. As expected, individuals with a defined MFN2 variant, p.Arg468His, were asymptomatic or had a mild phenotype. The co-occurrence of such diseases, SPG18 and CMT2A, may result in the milder phenotype to be overlooked or its features considered as a part of the symptoms of other disease. Certainly, providing genetic counseling in such cases can be challenging. These cases reveal the importance of WES.","PeriodicalId":14161,"journal":{"name":"International Journal of Neuroscience","volume":" ","pages":"1282-1287"},"PeriodicalIF":1.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10242294","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}

引用次数: 0