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Expanding mutational and phenotypic spectrum of CST3-related leukoencephalopathy: a novel family and literature review. 扩展cst3相关白质脑病的突变和表型谱：一个新的家族和文献综述。
IF 1.2 4区 医学
Neurogenetics Pub Date : 2026-03-23 DOI: 10.1007/s10048-026-00898-z
Shaoping Zhong, Yangye Lian, Jingzhen Liang, Shuyang Wang, Qianqian Zhang, Jianying Liu, Jing Ding
{"title":"Expanding mutational and phenotypic spectrum of CST3-related leukoencephalopathy: a novel family and literature review.","authors":"Shaoping Zhong, Yangye Lian, Jingzhen Liang, Shuyang Wang, Qianqian Zhang, Jianying Liu, Jing Ding","doi":"10.1007/s10048-026-00898-z","DOIUrl":"https://doi.org/10.1007/s10048-026-00898-z","url":null,"abstract":"","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"27 1","pages":""},"PeriodicalIF":1.2,"publicationDate":"2026-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147505621","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
PLA2G6 Associated Neurodegeneration (PLAN): similar variant, divergent phenotype. PLA2G6相关神经变性（PLAN）：相似的变异，不同的表型。
IF 1.2 4区 医学
Neurogenetics Pub Date : 2026-03-23 DOI: 10.1007/s10048-026-00897-0
Nayan Gupta, Mritunjai Kumar, Ashutosh Tiwari, Muneeshwaran Rathinasabapathi
{"title":"PLA2G6 Associated Neurodegeneration (PLAN): similar variant, divergent phenotype.","authors":"Nayan Gupta, Mritunjai Kumar, Ashutosh Tiwari, Muneeshwaran Rathinasabapathi","doi":"10.1007/s10048-026-00897-0","DOIUrl":"https://doi.org/10.1007/s10048-026-00897-0","url":null,"abstract":"","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"27 1","pages":""},"PeriodicalIF":1.2,"publicationDate":"2026-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147500516","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
Thorough evaluation of a novel splice variant in a female patient with MED12-related intellectual disability. 对med12相关智力残疾女性患者中一种新型剪接变异的全面评估
IF 1.2 4区 医学
Neurogenetics Pub Date : 2026-03-17 DOI: 10.1007/s10048-026-00894-3
Hongmei Tang, Mingshan Han, Jie Luo, Xiuying Zhao, Ting Gao, Jinling Li, Jing Zhang, Lu He, Zhibin Li, Mingwei Huang, Kaishou Xu
{"title":"Thorough evaluation of a novel splice variant in a female patient with MED12-related intellectual disability.","authors":"Hongmei Tang, Mingshan Han, Jie Luo, Xiuying Zhao, Ting Gao, Jinling Li, Jing Zhang, Lu He, Zhibin Li, Mingwei Huang, Kaishou Xu","doi":"10.1007/s10048-026-00894-3","DOIUrl":"https://doi.org/10.1007/s10048-026-00894-3","url":null,"abstract":"","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"27 1","pages":""},"PeriodicalIF":1.2,"publicationDate":"2026-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147476081","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
OTUD5-related rare X-linked multiple congenital anomalies and neurodevelopmental syndrome: clinical findings and review of the literature. otud5相关的罕见x连锁多发性先天性异常和神经发育综合征：临床发现和文献综述
IF 1.2 4区 医学
Neurogenetics Pub Date : 2026-03-16 DOI: 10.1007/s10048-026-00896-1
Arzu Eroğlu, Dilan Genç Akdağ, Gül Ünsel-Bolat, Alperen Tezcan, Hilmi Bolat
{"title":"OTUD5-related rare X-linked multiple congenital anomalies and neurodevelopmental syndrome: clinical findings and review of the literature.","authors":"Arzu Eroğlu, Dilan Genç Akdağ, Gül Ünsel-Bolat, Alperen Tezcan, Hilmi Bolat","doi":"10.1007/s10048-026-00896-1","DOIUrl":"https://doi.org/10.1007/s10048-026-00896-1","url":null,"abstract":"","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"27 1","pages":""},"PeriodicalIF":1.2,"publicationDate":"2026-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147470244","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
Aberrant RNA splicing caused by variant in DEPDC5 identified in a patient with pharmacoresistant epilepsy. 在一名耐药癫痫患者中发现由DEPDC5变异引起的异常RNA剪接。
IF 1.2 4区 医学
Neurogenetics Pub Date : 2026-03-16 DOI: 10.1007/s10048-026-00890-7
Cong Zhou, Xing Wei, Qinqin Xiang, Jingqun Mai, Jing Wang
{"title":"Aberrant RNA splicing caused by variant in DEPDC5 identified in a patient with pharmacoresistant epilepsy.","authors":"Cong Zhou, Xing Wei, Qinqin Xiang, Jingqun Mai, Jing Wang","doi":"10.1007/s10048-026-00890-7","DOIUrl":"https://doi.org/10.1007/s10048-026-00890-7","url":null,"abstract":"","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"27 1","pages":""},"PeriodicalIF":1.2,"publicationDate":"2026-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147470180","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
Targeting ABC transporters in glioma: farnesiferols as potent agents against chemotherapy resistance. 在胶质瘤中靶向ABC转运蛋白：法尼铁醇作为抗化疗耐药的有效药物。
IF 1.2 4区 医学
Neurogenetics Pub Date : 2026-03-14 DOI: 10.1007/s10048-026-00881-8
Hamidreza Jamali, Mohamad Vosough Ghanbari, Fatemeh B Rassouli
{"title":"Targeting ABC transporters in glioma: farnesiferols as potent agents against chemotherapy resistance.","authors":"Hamidreza Jamali, Mohamad Vosough Ghanbari, Fatemeh B Rassouli","doi":"10.1007/s10048-026-00881-8","DOIUrl":"https://doi.org/10.1007/s10048-026-00881-8","url":null,"abstract":"","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"27 1","pages":""},"PeriodicalIF":1.2,"publicationDate":"2026-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147461084","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
Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54. 扩大复合氧化磷酸化缺陷的基因型谱54。
IF 1.2 4区 医学
Neurogenetics Pub Date : 2026-03-03 DOI: 10.1007/s10048-026-00892-5
King Lam Lai, Thomas B Smith, Reza Maroofian, Maha S Zaki, Swetha Ramadesikan, Tamara Reynolds, Daniel C Koboldt, Jesse M Hunter, Jorge Vidaurre, Mihaela Atanasova, Brian D Marsden, Wyatt W Yue, Henry Houlden, Robert W Taylor, William G Newman, Raymond T O'Keefe
{"title":"Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54.","authors":"King Lam Lai, Thomas B Smith, Reza Maroofian, Maha S Zaki, Swetha Ramadesikan, Tamara Reynolds, Daniel C Koboldt, Jesse M Hunter, Jorge Vidaurre, Mihaela Atanasova, Brian D Marsden, Wyatt W Yue, Henry Houlden, Robert W Taylor, William G Newman, Raymond T O'Keefe","doi":"10.1007/s10048-026-00892-5","DOIUrl":"10.1007/s10048-026-00892-5","url":null,"abstract":"","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"27 1","pages":""},"PeriodicalIF":1.2,"publicationDate":"2026-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12953478/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147345880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Novel genetic and nerve imaging characterization of Charcot-Marie-Tooth disease type 4F. 4F型腓骨肌萎缩症新的遗传和神经影像学特征。
IF 1.2 4区 医学
Neurogenetics Pub Date : 2026-03-03 DOI: 10.1007/s10048-026-00891-6
Hanna Küpper, Lara G Stühn, Kathrin Grundmann-Hauser, Alexander Maximilian Grimm, Markus Blankenburg, Tobias B Haack, Hendrik Rosewich
{"title":"Novel genetic and nerve imaging characterization of Charcot-Marie-Tooth disease type 4F.","authors":"Hanna Küpper, Lara G Stühn, Kathrin Grundmann-Hauser, Alexander Maximilian Grimm, Markus Blankenburg, Tobias B Haack, Hendrik Rosewich","doi":"10.1007/s10048-026-00891-6","DOIUrl":"10.1007/s10048-026-00891-6","url":null,"abstract":"","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"27 1","pages":""},"PeriodicalIF":1.2,"publicationDate":"2026-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12957058/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147345906","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association of TRPM7 gene mutation with familial vestibular migraine. TRPM7基因突变与家族性前庭偏头痛的关系。
IF 1.2 4区 医学
Neurogenetics Pub Date : 2026-02-25 DOI: 10.1007/s10048-026-00886-3
Yong Luo, Jian Chen, Qian Li, Yun Zhang
{"title":"Association of TRPM7 gene mutation with familial vestibular migraine.","authors":"Yong Luo, Jian Chen, Qian Li, Yun Zhang","doi":"10.1007/s10048-026-00886-3","DOIUrl":"https://doi.org/10.1007/s10048-026-00886-3","url":null,"abstract":"","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"27 1","pages":""},"PeriodicalIF":1.2,"publicationDate":"2026-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147286443","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
EIF2AK2-related hypomyelinating leukoencephalopathy presenting with congenital bilateral vocal cord paralysis and a spinal cord lesion. eif2ak2相关的脊髓白质脑病，表现为先天性双侧声带麻痹和脊髓病变。
IF 1.2 4区 医学
Neurogenetics Pub Date : 2026-02-23 DOI: 10.1007/s10048-026-00888-1
Yasuhiro Kawai, Azusa Ikeda, Koki Nagai, Naruto Takuya, Noriko Aida, Tomohide Goto, Yukiko Kuroda, Kenji Kurosawa
{"title":"EIF2AK2-related hypomyelinating leukoencephalopathy presenting with congenital bilateral vocal cord paralysis and a spinal cord lesion.","authors":"Yasuhiro Kawai, Azusa Ikeda, Koki Nagai, Naruto Takuya, Noriko Aida, Tomohide Goto, Yukiko Kuroda, Kenji Kurosawa","doi":"10.1007/s10048-026-00888-1","DOIUrl":"10.1007/s10048-026-00888-1","url":null,"abstract":"<p><p>Heterozygous EIF2AK2 variants reportedly cause leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome. We present, to our knowledge, the first reported patient with EIF2AK2-related hypomyelinating leukoencephalopathy involving congenital bilateral vocal cord paralysis. She had respiratory distress soon after birth and underwent tracheostomy. Neonatal brain magnetic resonance imaging showed normal myelination, but severe delayed myelination, accompanied by the rare finding of dorsal medulla and cervical spinal cord signal changes, was apparent at 8 months after transient neurologic regression triggered by infection. Exome sequencing identified a recurrent heterozygous variant in EIF2AK2 (NM_002759.3:c.326 C > T p.(Ala109Val)). Bilateral vocal cord paralysis might be a clinical feature of EIF2AK2-related disorders.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"27 1","pages":""},"PeriodicalIF":1.2,"publicationDate":"2026-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147272922","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
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