Neurogenetics最新文献

{"title":"Retraction Note: Impact of flexible assertive community treatment model (FACT) on community rehabilitation of schizophrenia in Southern China.","authors":"Yinglin Zhao, Shaoxiong Zheng, Handi Zhang, Yinnan Zhang, Zidong Wang, Qingjun Huang","doi":"10.1007/s10048-025-00809-8","DOIUrl":"https://doi.org/10.1007/s10048-025-00809-8","url":null,"abstract":"","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"26"},"PeriodicalIF":1.6,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143257405","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}

{"title":"Genetic and expressional insights into the association of TRAPPC10 variants with neurodevelopmental disorders.","authors":"Peng-Yu Wang, Wen-Hui Liu, Yu-Jie Gu, Sheng Luo","doi":"10.1007/s10048-025-00804-z","DOIUrl":"https://doi.org/10.1007/s10048-025-00804-z","url":null,"abstract":"","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"25"},"PeriodicalIF":1.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143076386","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}

{"title":"Correction to: Gene-gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy.","authors":"Zhi-Jian Lin, Jun-Wei He, Sheng-Yin Zhu, Li-Hong Xue, Jian-Feng Zheng, Li-Qin Zheng, Bi-Xia Huang, Guo-Zhang Chen, Peng-Xing Lin","doi":"10.1007/s10048-025-00802-1","DOIUrl":"https://doi.org/10.1007/s10048-025-00802-1","url":null,"abstract":"","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"24"},"PeriodicalIF":1.6,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143054292","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}

{"title":"Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.","authors":"Busra Aynekin, Sinan Akbaş, Ayten Gulec, Ummu Gulsum Ozgul Gumus, Abdullah Emre Guner, Stephanie Efthymiou, Henry Houlden, Gözde Yesil Sayın, Huseyin Per","doi":"10.1007/s10048-025-00799-7","DOIUrl":"10.1007/s10048-025-00799-7","url":null,"abstract":"<p><p>The cytoskeleton, composed of microtubules, intermediate filaments and actin filaments is vital for various cellular functions, particularly within the nervous system, where microtubules play a key role in intracellular transport, cell morphology, and synaptic plasticity. Tubulin-specific chaperones, including tubulin folding cofactors (TBCA, TBCB, TBCC, TBCD, TBCE), assist in the proper formation of α/β-tubulin heterodimers, essential for microtubule stability. Pathogenic variants in these chaperone-encoding genes, especially TBCD, have been linked to Progressive Encephalopathy with Brain Atrophy and Thin Corpus Callosum (PEBAT, OMIM #604,649), a severe neurodevelopmental disorder. We report three cases from two consanguineous families with varying clinical presentations of PEBAT syndrome due to homozygous pathogenic variants in the TBCD. In Family 1, two siblings (F1C1 and F1C2) harboring the homozygous c.2314C > T, p.(Arg772Cys) variant exhibited severe neurodevelopmental regression, spastic tetraplegia, seizures, and brain atrophy. In contrast, Family 2, Case 3 (F2C3), with the homozygous c.230A > G, p.(His77Arg) variant, presented a milder phenotype, including absence seizures, slight developmental delay, and less pronounced neuroanatomical abnormalities. These findings contribute to the expanding phenotypic spectrum of PEBAT and suggesting that modifier genes or epigenetic factors may influence disease severity.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"23"},"PeriodicalIF":1.6,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143034794","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}

{"title":"The molecular mechanism of nitric oxide in memory consolidation and its role in the pathogenesis of memory-related disorders.","authors":"Zainab I Bahdar, Ejlal Abu-El-Rub, Rawan Almazari, Ayman Alzu'bi, Raed M Al-Zoubi","doi":"10.1007/s10048-025-00803-0","DOIUrl":"10.1007/s10048-025-00803-0","url":null,"abstract":"<p><p>Memory is a dynamic process of encoding, storing, and retrieving information. It includes sensory, short-term, and long-term memory, each with unique characteristics. Nitric oxide (NO) is a biological messenger synthesized on demand by neuronal nitric oxide synthase (nNOS) through a biochemical process initiated by glutamate binding to NMDA receptors, causing membrane depolarization and calcium influx. NO is known to regulate many signaling pathways including those related to memory consolidation. To throw light on the precise molecular mechanism of nitric oxide (NO) in memory consolidation and the possibility of targeting NO pathways as a therapeutic approach to scale down cognitive impairments. We conducted a search of the PubMed MEDLINE database, maintained by the US National Library of Medicine. The search strategy utilized Medical Subject Headings (MeSH) terms, including \"nitric oxide and memory,\" \"nitric oxide synthesis in the brain,\" \"nitric oxide and Alzheimer's,\" \"nitric oxide and Parkinson's,\" and \"nitric oxide, neurodegenerative disorders, and psychiatric disorders.\" Additionally, relevant keywords such as \"nitric oxide,\" \"memory,\" and \"cognitive disorders\" were employed. We included the most recent preclinical and clinical studies pertinent to the review topic and limited the selection to articles published in English. NO exerts its role in memory consolidation by diffusing between neurons to promote synaptic plasticity, especially long-term potentiation (LTP). It acts as a retrograde messenger, neurotransmitter release modulator, and synaptic protein modifier. The dysregulation of NO balance in the brain can contribute to the pathogenesis of various neurodegenerative diseases, particularly Alzheimer's, Parkinson's, and psychiatric disorders. The disturbance in NO signaling is strongly correlated with synaptic signaling dysfunction and oxidative stress. NO plays a fundamental role in memory consolidation, and its dysregulation contributes to cognitive impairment-a hallmark of numerous neurodegenerative and psychiatric disorders. Future research should aim to deepen our understanding of the mechanisms underlying NO's involvement in memory consolidation and to explore therapeutic strategies targeting the NO pathway to mitigate cognitive decline in affected individuals.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"22"},"PeriodicalIF":1.6,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11762006/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143034798","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}

{"title":"Neuroinflammation and neurodegeneration in Huntington's disease: genetic hallmarks, role of metals and organophosphates.","authors":"Omkar Kumar Kunwar, Shamsher Singh","doi":"10.1007/s10048-025-00801-2","DOIUrl":"10.1007/s10048-025-00801-2","url":null,"abstract":"<p><p>Huntington's disease (HDs) is a fatal, autosomal dominant, and hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric disturbances. HD is well linked to mutation in the HTT gene, which leads to an abnormal expansion of trinucleotide CAG repeats, resulting in the production of the mHTT protein and responsible for abnormally long poly-Q tract. These abnormal proteins disrupt cellular processes, including neuroinflammation, endoplasmic reticulum (ER) stress, and mitochondrial dysfunction, ultimately leading to selective neuronal loss in the brain. Epidemiological studies reveal significant regional variability in HDs prevalence, with the highest rates observed in North America and the lowest in Africa. In addition to genetic factors, environmental influences such as exposure to metals, and chemicals, and lifestyle factors like alcohol and tobacco use may exacerbate disease progression. This review explores the molecular mechanisms underlying HDs and emphasize the role of neuroinflammatory mediators and environmental factors, in HD research. Understanding these complex interactions is crucial for developing targeted interventions that can slow or halt the progression of this devastating disease.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"21"},"PeriodicalIF":1.6,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143017118","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}

{"title":"Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties.","authors":"Gustavo Maximiano-Alves, Renata do Amaral Moreto Caravelas, Trajano Aguiar Pires Gonçalves, Kelvin Ferrari Corniani, Júlio Cesar Nather, Camila Vasconcelos Geraldi-Tomaselli, Rodrigo Siqueira Soares Frezatti, Regina Maria França Fernandes, Antônio Carlos Dos Santos, Wilson Marques, Pedro José Tomaselli","doi":"10.1007/s10048-025-00800-3","DOIUrl":"10.1007/s10048-025-00800-3","url":null,"abstract":"<p><p>Neuronal Ceroid Lipofuscinosis 11 (CLN11) is an ultra-rare subtype of adult-onset Neuronal Ceroid Lipofuscinosis. Its phenotype is variable and not fully known. A 21-year-old man was evaluated in our neurogenetic outpatient clinic for early onset complex phenotype, including learning difficulties, cerebellar ataxia, cone-rod dystrophy, epilepsy, and dystonia. The patient was submitted to neurological and neuropsychological assessment, neuro-ophthalmological tests, brain MRI, EEG and whole exome sequencing. A homozygous frameshift variant (NM_002087.4: c.768_769dup; p.Gln257Profs*27) was found. Distinct type descriptions, as in this case, increase the clinical spectrum of the disease.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"20"},"PeriodicalIF":1.6,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142985648","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}

{"title":"ATXN2 polyglutamine intermediate repeats length expansions in Malaysian patients with amyotrophic lateral sclerosis (ALS).","authors":"Suzanna Edgar, Nurul Angelyn Zulhairy-Liong, Melina Ellis, Shuchi Trivedi, Danqing Zhu, Jeffrey Ochieng Odongo, Khean-Jin Goh, David Paul Capelle, Nortina Shahrizaila, Marina L Kennerson, Azlina Ahmad-Annuar","doi":"10.1007/s10048-024-00798-0","DOIUrl":"10.1007/s10048-024-00798-0","url":null,"abstract":"<p><p>Intermediate CAG repeats from 29 to 33 in the ATXN2 gene contributes to the risk of amyotrophic lateral sclerosis (ALS) in European and Asian populations. In this study, 148 ALS patients of multiethnic descent: Chinese (56.1%), Malay (24.3%), Indian (12.8%), others (6.8%) and 100 neurologically normal controls were screened for the ATXN2 CAG repeat expansion. The most common repeat length in both the controls and patients was 22. No familial ALS patients were positive for the intermediate repeat sizes (29-33), while four sporadic patients (2.8%) were positive, with one harbouring a rare ATXN2 homozygous 32 repeat expansion, and a likely pathogenic variant in SPAST. All four patients had limb-onset ALS. Despite representing the smallest ethnic group in our patient cohort, three of the four patients with intermediate repeat sizes were of Indian ancestry. This study, which is the first in Malaysia and Southeast Asia, shows that ATXN2 intermediate risk expansions are relevant to ALS in these populations and will help to inform future genetic testing strategies in the clinic.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"19"},"PeriodicalIF":1.6,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142973455","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}

{"title":"Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype.","authors":"Emine Karatas, Ayten Gulec, Maide Korkmaz, Zehra Filiz Karaman, Aslihan Kiraz, Huseyin Per, Munis Dundar","doi":"10.1007/s10048-024-00795-3","DOIUrl":"https://doi.org/10.1007/s10048-024-00795-3","url":null,"abstract":"<p><p>In most cases there is a single etiological factor causing neuromotor developmental delay and epilepsy while sometimes more than one gene may be involved. These include the autosomal recessive inherited CAMSAP1 gene, which is associated with cortical developmental malformations such as pachygyria and lissencephaly and the autosomal dominant inherited NBEA gene, which plays crucial roles in vesicle trafficking as well as synapse structure and function. Loss of function of both genes together is a well-known disease mechanism. We report a 7-year-old girl with early-onset epilepsy, severe neuromotor developmental delay and brain malformation. Whole exome analysis of the patient revealed c.1153C > T p.Gln385* nonsense homozygous likely pathogenic variant in CAMSAP1 gene and c.6867G > A p.Trp2289* nonsense heterozygous pathogenic de novo variant in NBEA gene. A small number of cases associated with these genes have been reported. We report the 8th case reported in the CAMSAP1 gene and the overlapping phenotype in these two genes.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"16"},"PeriodicalIF":1.6,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142900730","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}

{"title":"Mendelian randomization study of causal link from Cerebrospinal fluid metabolomics to neurodegenerative diseases.","authors":"Jingjing Zhang, Xin Zhang, Boan Xiao, Jiecai Ouyang, Peng Wang, Xiaobin Peng","doi":"10.1007/s10048-024-00792-6","DOIUrl":"https://doi.org/10.1007/s10048-024-00792-6","url":null,"abstract":"<p><p>To investigate the causal relationships between cerebrospinal fluid (CSF) metabolites and various neurodegenerative diseases (NDDs), we conducted a two-sample Mendelian randomization (MR) analysis. This study utilized summary statistics from genome-wide association studies (GWAS) of CSF metabolites and four common neurodegenerative diseases: Alzheimer's disease (AD), Parkinson's disease (PD), multiple sclerosis (MS), and amyotrophic lateral sclerosis (ALS). MR methods were employed to determine causal associations, with the inverse variance weighted method as the primary approach. Additionally, different GWAS summary data for NDDs were used to validate the initial results and perform sensitivity analyses to enhance the robustness of the findings. Finally, reverse MR analyses were conducted to assess the possibility of reverse causation. Combining results from the initial and replication phases of MR analysis, we identified potential causal relationships between various CSF metabolites and different NDDs. Specifically, we found potential causal relationships between five CSF metabolites and AD, six CSF metabolites and MS, and thirteen CSF metabolites and ALS. Further sensitivity analyses confirmed the robustness of these associations. Reverse MR analysis indicated causal effects of AD on glucuronate and ALS on acetylcarnitine (C2). Our study, through genetic means, demonstrates close causal associations between the specific types of CSF metabolites and the risk of NDDS (AD, PD, MS, and ALS), providing useful guidance for future clinical researches.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"15"},"PeriodicalIF":1.6,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142787732","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}