Experimental Neurobiology最新文献_第3页

An Autopsy-proven Case-based Review of Autoimmune Encephalitis. 基于尸检病例的自身免疫性脑炎回顾。

IF 2.4 4区医学

Experimental Neurobiology Pub Date : 2024-02-29 DOI: 10.5607/en23036

Yu-Mi Shim, Seong-Ik Kim, So Dug Lim, Kwanghoon Lee, Eric Eunshik Kim, Jae Kyung Won, Sung-Hye Park

{"title":"An Autopsy-proven Case-based Review of Autoimmune Encephalitis.","authors":"Yu-Mi Shim, Seong-Ik Kim, So Dug Lim, Kwanghoon Lee, Eric Eunshik Kim, Jae Kyung Won, Sung-Hye Park","doi":"10.5607/en23036","DOIUrl":"10.5607/en23036","url":null,"abstract":"Autoimmune encephalitis (AIE) is a type of immunoreactive encephalitic disorder and is recognized as the most prevalent noninfectious encephalitis. Nevertheless, the rarity of definitive AIE diagnosis through biopsy or autopsy represents a significant hurdle to understanding and managing the disease. In this article, we present the pathological findings of AIE and review the literature based on a distinct case of AIE presenting as CD8+ T-lymphocyte predominant encephalitis. We describe the clinical progression, diagnostic imaging, laboratory data, and autopsy findings of an 80-year-old deceased male patient. The patient was diagnosed with pulmonary tuberculosis 6 months before death and received appropriate medications. A week before admission to the hospital, the patient manifested symptoms such as a tendency to sleep, decreased appetite, and confusion. Although the patient temporally improved with medication including correction of hyponatremia, the patient progressed rapidly and died in 6 weeks. The brain tissue revealed lymphocytic infiltration in the gray and white matter, leptomeninges, and perivascular infiltration with a predominance of CD8+ T lymphocytes, suggesting a case of AIE. There was no detectable evidence of viral infection or underlying neoplasm. The autopsy revealed that this patient also had Alzheimer's disease, atherosclerosis, arteriolosclerosis, and aging-related tau astrogliopathy. This report emphasizes the pivotal role of pathological examination in the diagnosis of AIE, especially when serological autoantibody testing is not available or when a patient is suspected of having multiple diseases.","PeriodicalId":12263,"journal":{"name":"Experimental Neurobiology","volume":"33 1","pages":"1-17"},"PeriodicalIF":2.4,"publicationDate":"2024-02-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10938074/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140109787","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

Cerebral Cavernous Malformation (CCM)-like Vessel Lesion in the Aged ANKS1A-deficient Brain. ANKS1A缺陷者老年脑中的脑海绵畸形（CCM）样血管病变

IF 2.4 4区医学

Experimental Neurobiology Pub Date : 2023-12-31 DOI: 10.5607/en23032

Jiyeon Lee, Haeryung Lee, Miram Shin, Soochul Park

引用次数: 0

Distinct Role of Parvalbumin Expressing Neurons in the Reticular Thalamic Nucleus in Nociception. 丘脑网状核中表达 Parvalbumin 的神经元在痛觉中的独特作用

IF 2.4 4区医学

Experimental Neurobiology Pub Date : 2023-12-31 DOI: 10.5607/en23018

Sanggeon Park, Jeiwon Cho, Yeowool Huh

{"title":"Distinct Role of Parvalbumin Expressing Neurons in the Reticular Thalamic Nucleus in Nociception.","authors":"Sanggeon Park, Jeiwon Cho, Yeowool Huh","doi":"10.5607/en23018","DOIUrl":"10.5607/en23018","url":null,"abstract":"Loss of inhibition is suggested to cause pathological pain symptoms. Indeed, some human case reports suggest that lesions including the thalamic reticular nucleus (TRN) which provides major inhibitory inputs to other thalamic nuclei, may induce thalamic pain, a type of neuropathic pain. In support, recent studies demonstrated that activation of GABAergic neurons in the TRN reduces nociceptive responses in mice, reiterating the importance of the TRN in gating nociception. However, whether biochemically distinct neuronal types in the TRN differentially contribute to gating nociception has not been investigated. We, therefore, investigated whether the activity of parvalbumin (PV) and somatostatin (SOM) expressing neurons in the somatosensory TRN differentially modulate nociceptive behaviors using optogenetics and immunostaining techniques. We found that activation of PV neurons in the somatosensory TRN significantly reduced nociceptive behaviors, while activation of SOM neurons in the TRN had no such effect. Also, selective activation of PV neurons, but not SOM neurons, in the TRN activated relatively more PV neurons in the primary somatosensory cortex, which delivers inhibitory effect in the cortex, when measured with cFos and PV double staining. Results of our study suggest that PV neurons in the somatosensory TRN have a stronger influence in regulating nociception and that their activations may provide further inhibition in the somatosensory cortex by activating cortical PV neurons.","PeriodicalId":12263,"journal":{"name":"Experimental Neurobiology","volume":"32 6","pages":"387-394"},"PeriodicalIF":2.4,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10789177/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139402477","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

Peripheral Neuropathy and Decreased Locomotion of a RAB40B Mutation in Human and Model Animals. 人类和模式动物的 RAB40B 突变引起的周围神经病和运动能力下降

IF 2.4 4区医学

Experimental Neurobiology Pub Date : 2023-12-31 DOI: 10.5607/en23027

Wonseok Son, Hui Su Jeong, Da Eun Nam, Ah Jin Lee, Soo Hyun Nam, Ji Eun Lee, Byung-Ok Choi, Ki Wha Chung

{"title":"Peripheral Neuropathy and Decreased Locomotion of a RAB40B Mutation in Human and Model Animals.","authors":"Wonseok Son, Hui Su Jeong, Da Eun Nam, Ah Jin Lee, Soo Hyun Nam, Ji Eun Lee, Byung-Ok Choi, Ki Wha Chung","doi":"10.5607/en23027","DOIUrl":"10.5607/en23027","url":null,"abstract":"Rab40 proteins are an atypical subgroup of Rab GTPases containing a unique suppressor of the cytokine signaling (SOCS) domain that is recruited to assemble the CRL5 E3 ligase complex for proteolytic regulation in various biological processes. A nonsense mutation deleting the C-terminal SOCS box in the RAB40B gene was identified in a family with axonal peripheral neuropathy (Charcot-Marie-Tooth disease type 2), and pathogenicity of the mutation was assessed in model organisms of zebrafish and Drosophila. Compared to control fish, zebrafish larvae transformed by the human mutant hRAB40B-Y83X showed a defective swimming pattern of stalling with restricted localization and slower motility. We were consistently able to observe reduced labeling of synaptic markers along neuromuscular junctions of the transformed larvae. In addition to the neurodevelopmental phenotypes, compared to normal hRAB40B expression, we further examined ectopic expression of hRAB40B-Y83X in Drosophila to show a progressive decline of locomotion ability. Decreased ability of locomotion by ubiquitous expression of the human mutation was reproduced not with GAL4 drivers for neuron-specific expression but only when a pan-glial GAL4 driver was applied. Using the ectopic expression model of Drosophila, we identified a genetic interaction in which Cul5 down regulation exacerbated the defective motor performance, showing a consistent loss of SOCS box of the pathogenic RAB40B. Taken together, we could assess the possible gain-of-function of the human RAB40B mutation by comparing behavioral phenotypes in animal models; our results suggest that the mutant phenotypes may be associated with CRL5-mediated proteolytic regulation.","PeriodicalId":12263,"journal":{"name":"Experimental Neurobiology","volume":"32 6","pages":"410-422"},"PeriodicalIF":2.4,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10789172/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139402479","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

Mapping Astrocytic and Neuronal μ-opioid Receptor Expression in Various Brain Regions Using MOR-mCherry Reporter Mouse. 利用MOR-mCherry报告小鼠绘制不同脑区星形胶质细胞和神经元μ-阿片受体表达图

IF 2.4 4区医学

Experimental Neurobiology Pub Date : 2023-12-31 DOI: 10.5607/en23039

Woojin Won, Daeun Kim, Eunjin Shin, C Justin Lee

{"title":"Mapping Astrocytic and Neuronal μ-opioid Receptor Expression in Various Brain Regions Using MOR-mCherry Reporter Mouse.","authors":"Woojin Won, Daeun Kim, Eunjin Shin, C Justin Lee","doi":"10.5607/en23039","DOIUrl":"10.5607/en23039","url":null,"abstract":"The μ-opioid receptor (MOR) is a class of opioid receptors characterized by a high affinity for β-endorphin and morphine. MOR is a G protein-coupled receptor (GPCR) that plays a role in reward and analgesic effects. While expression of MOR has been well established in neurons and microglia, astrocytic MOR expression has been less clear. Recently, we have reported that MOR is expressed in hippocampal astrocytes, and its activation has a critical role in the establishment of conditioned place preference. Despite this critical role, the expression and function of astrocytic MOR from other brain regions are still unknown. Here, we report that MOR is significantly expressed in astrocytes and GABAergic neurons from various brain regions including the hippocampus, nucleus accumbens, periaqueductal gray, amygdala, and arcuate nucleus. Using the MOR-mCherry reporter mice and Imaris analysis, we demonstrate that astrocytic MOR expression exceeded 60% in all tested regions. Also, we observed similar MOR expression of GABAergic neurons as shown in the previous distribution studies and it is noteworthy that MOR expression is particularly in parvalbumin (PV)-positive neurons. Furthermore, consistent with the normal MOR function observed in the MOR-mCherry mouse, our study also demonstrates intact MOR functionality in astrocytes through iGluSnFr-mediated glutamate imaging. Finally, we show the sex-difference in the expression pattern of MOR in PV-positive neurons, but not in the GABAergic neurons and astrocytes. Taken together, our findings highlight a substantial astrocytic MOR presence across various brain regions.","PeriodicalId":12263,"journal":{"name":"Experimental Neurobiology","volume":"32 6","pages":"395-409"},"PeriodicalIF":2.4,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10789176/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139402478","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

Temperature-induced Artifacts in Tau Phosphorylation: Implications for Reliable Alzheimer's Disease Research. 温度诱导的 Tau 磷酸化伪影：对可靠的阿尔茨海默病研究的影响

IF 2.4 4区医学

Experimental Neurobiology Pub Date : 2023-12-31 DOI: 10.5607/en23025

Geoffrey Canet, Emma Rocaboy, Francis Laliberté, Emmanuelle Boscher, Isabelle Guisle, Sofia Diego-Diaz, Parissa Fereydouni-Forouzandeh, Robert A Whittington, Sébastien S Hébert, Vincent Pernet, Emmanuel Planel

{"title":"Temperature-induced Artifacts in Tau Phosphorylation: Implications for Reliable Alzheimer's Disease Research.","authors":"Geoffrey Canet, Emma Rocaboy, Francis Laliberté, Emmanuelle Boscher, Isabelle Guisle, Sofia Diego-Diaz, Parissa Fereydouni-Forouzandeh, Robert A Whittington, Sébastien S Hébert, Vincent Pernet, Emmanuel Planel","doi":"10.5607/en23025","DOIUrl":"10.5607/en23025","url":null,"abstract":"In preclinical research on Alzheimer's disease and related tauopathies, tau phosphorylation analysis is routinely employed in both cellular and animal models. However, recognizing the sensitivity of tau phosphorylation to various extrinsic factors, notably temperature, is vital for experimental accuracy. Hypothermia can trigger tau hyperphosphorylation, while hyperthermia leads to its dephosphorylation. Nevertheless, the rapidity of tau phosphorylation in response to unintentional temperature variations remains unknown. In cell cultures, the most significant temperature change occurs when the cells are removed from the incubator before harvesting, and in animal models, during anesthesia prior to euthanasia. In this study, we investigate the kinetics of tau phosphorylation in N2a and SH-SY5Y neuronal cell lines, as well as in mice exposed to anesthesia. We observed changes in tau phosphorylation within the few seconds upon transferring cell cultures from their 37°C incubator to room temperature conditions. However, cells placed directly on ice post-incubation exhibited negligible phosphorylation changes. In vivo, isoflurane anesthesia rapidly resulted in tau hyperphosphorylation within the few seconds needed to lose the pedal withdrawal reflex in mice. These findings emphasize the critical importance of preventing temperature variation in researches focused on tau. To ensure accurate results, we recommend avoiding anesthesia before euthanasia and promptly placing cells on ice after removal from the incubator. By controlling temperature fluctuations, the reliability and validity of tau phosphorylation studies can be significantly enhanced.","PeriodicalId":12263,"journal":{"name":"Experimental Neurobiology","volume":"32 6","pages":"423-440"},"PeriodicalIF":2.4,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10789175/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139402480","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

Arcuate Nucleus of the Hypothalamus: Anatomy, Physiology, and Diseases. 下丘脑弓状核：解剖学、生理学和疾病。

IF 2.4 4区医学

Experimental Neurobiology Pub Date : 2023-12-31 DOI: 10.5607/en23040

Juhyun Song, Seok-Yong Choi

引用次数: 0

Extracellular Vesicles Released by Lactobacillus paracasei Mitigate Stress-induced Transcriptional Changes and Depression-like Behavior in Mice. 副干酪乳杆菌释放的细胞外小泡缓解小鼠应激诱导的转录变化和抑郁样行为。

IF 2.4 4区医学

Experimental Neurobiology Pub Date : 2023-10-31 DOI: 10.5607/en23024

Hyejin Kwon, Eun-Hwa Lee, Juli Choi, Jin-Young Park, Yoon-Keun Kim, Pyung-Lim Han

{"title":"Extracellular Vesicles Released by Lactobacillus paracasei Mitigate Stress-induced Transcriptional Changes and Depression-like Behavior in Mice.","authors":"Hyejin Kwon, Eun-Hwa Lee, Juli Choi, Jin-Young Park, Yoon-Keun Kim, Pyung-Lim Han","doi":"10.5607/en23024","DOIUrl":"10.5607/en23024","url":null,"abstract":"Various probiotic strains have been reported to affect emotional behavior. However, the underlying mechanisms by which specific probiotic strains change brain function are not clearly understood. Here, we report that extracellular vesicles derived from Lactobacillus paracasei (Lpc-EV) have an ability to produce genome-wide changes against glucocorticoid (GC)-induced transcriptional responses in HT22 hippocampal neuronal cells. Genome-wide analysis using microarray assay followed by Rank-Rank Hypergeometric Overlap (RRHO) method leads to identify the top 20%-ranked 1,754 genes up- or down-regulated following GC treatment and their altered expressions are reversed by Lpc-EV in HT22 cells. Serial k-means clustering combined with Gene Ontology enrichment analyses indicate that the identified genes can be grouped into multiple functional clusters that contain functional modules of \"responses to stress or steroid hormones\", \"histone modification\", and \"regulating MAPK signaling pathways\". While all the selected genes respond to GC and Lpc-EV at certain levels, the present study focuses on the clusters that contain Mkp-1, Fkbp5, and Mecp2, the genes characterized to respond to GC and Lpc-EV in opposite directions in HT22 cells. A translational study indicates that the expression levels of Mkp-1, Fkbp5, and Mecp2 are changed in the hippocampus of mice exposed to chronic stress in the same directions as those following GC treatment in HT22 cells, whereas Lpc-EV treatment restored stress-induced changes of those factors, and alleviated stress-induced depressive-like behavior. These results suggest that Lpc-EV cargo contains bioactive components that directly induce genome-wide transcriptional responses against GC-induced transcriptional and behavioral changes.","PeriodicalId":12263,"journal":{"name":"Experimental Neurobiology","volume":"32 5","pages":"328-342"},"PeriodicalIF":2.4,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10628865/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71479887","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

Lactobacillus reuteri ATG-F4 Alleviates Chronic Stress-induced Anhedonia by Modulating the Prefrontal Serotonergic System. 路氏乳杆菌ATG-F4通过调节额前血清素能系统来缓解慢性应激诱导的享乐主义。

IF 2.4 4区医学

Experimental Neurobiology Pub Date : 2023-10-31 DOI: 10.5607/en23028

Jiyun Lee, Eum-Ji Kim, Gun-Seok Park, Jeongseop Kim, Tae-Eun Kim, Yoo Jin Lee, Juyi Park, Jihee Kang, Ja Wook Koo, Tae-Yong Choi

{"title":"Lactobacillus reuteri ATG-F4 Alleviates Chronic Stress-induced Anhedonia by Modulating the Prefrontal Serotonergic System.","authors":"Jiyun Lee, Eum-Ji Kim, Gun-Seok Park, Jeongseop Kim, Tae-Eun Kim, Yoo Jin Lee, Juyi Park, Jihee Kang, Ja Wook Koo, Tae-Yong Choi","doi":"10.5607/en23028","DOIUrl":"10.5607/en23028","url":null,"abstract":"Mental health is influenced by the gut-brain axis; for example, gut dysbiosis has been observed in patients with major depressive disorder (MDD). Gut microbial changes by fecal microbiota transplantation or probiotics treatment reportedly modulates depressive symptoms. However, it remains unclear how gut dysbiosis contributes to mental dysfunction, and how correction of the gut microbiota alleviates neuropsychiatric disorders. Our previous study showed that chronic consumption of Lactobacillus reuteri ATG-F4 (F4) induced neurometabolic alterations in healthy mice. Here, we investigated whether F4 exerted therapeutic effects on depressive-like behavior by influencing the central nervous system. Using chronic unpredictable stress (CUS) to induce anhedonia, a key symptom of MDD, we found that chronic F4 consumption alleviated CUS-induced anhedonic behaviors, accompanied by biochemical changes in the gut, serum, and brain. Serum and brain metabolite concentrations involved in tryptophan metabolism were regulated by CUS and F4. F4 consumption reduced the elevated levels of serotonin (5-HT) in the brain observed in the CUS group. Additionally, the increased expression of Htr1a, a subtype of the 5-HT receptor, in the medial prefrontal cortex (mPFC) of stressed mice was restored to levels observed in stress-naïve mice following F4 supplementation. We further demonstrated the role of Htr1a using AAV-shRNA to downregulate Htr1a in the mPFC of CUS mice, effectively reversing CUS-induced anhedonic behavior. Together, our findings suggest F4 as a potential therapeutic approach for relieving some depressive symptoms and highlight the involvement of the tryptophan metabolism in mitigating CUS-induced depressive-like behaviors through the action of this bacterium.","PeriodicalId":12263,"journal":{"name":"Experimental Neurobiology","volume":"32 5","pages":"313-327"},"PeriodicalIF":2.4,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10628864/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71479885","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

Methylation-based Subclassifications of Embryonal Tumor with Multilayered Rosettes in Not Just Pediatric Brains. 基于甲基化的胚胎肿瘤亚类与多层玫瑰不仅在儿童大脑中。

IF 2.4 4区医学

Experimental Neurobiology Pub Date : 2023-10-31 DOI: 10.5607/en23021

Eric Eunshik Kim, Kwanghoon Lee, Ji-Hoon Phi, Min-Sung Kim, Hyoung Jin Kang, Hongseok Yun, Sung-Hye Park

{"title":"Methylation-based Subclassifications of Embryonal Tumor with Multilayered Rosettes in Not Just Pediatric Brains.","authors":"Eric Eunshik Kim, Kwanghoon Lee, Ji-Hoon Phi, Min-Sung Kim, Hyoung Jin Kang, Hongseok Yun, Sung-Hye Park","doi":"10.5607/en23021","DOIUrl":"10.5607/en23021","url":null,"abstract":"The aim of this study is to investigate the genetic profiles and methylation-based classifications of Embryonal tumor with multilayered rosettes (ETMR), with a specific focus on differentiating between C19MC amplified and C19MC-not amplified groups, including cases with DICER1 mutations. To achieve this, next-generation sequencing using a targeted gene panel for brain tumors and methylation class studies using the Epic850K microarray were performed to identify tumor subclasses and their clinicopathological characteristics. The study cohort consisted of four patients, including 3 children (a 4-months/F, a 9-months/M, and a 2 y/F), and one adult (a 30 y/Male). All three tumors in the pediatric patients originated in the posterior fossa and exhibited TTYH1:C19MC fusion and C19MC amplification. The fourth case in the adult patient involved the cerebellopontine angle with biallelic DICER1 mutation. Histopathological examination revealed typical embryonal features characterized by multilayered rosettes and abundant neuropils in all cases, while the DICER1-mutant ETMR also displayed cartilage islands in addition to the classic ETMR pathology. All four tumors showed positive staining for LIN28A. The t-SNE clustering analysis demonstrated that the first three cases clustered with known subtypes of ETMR, specifically C19MC amplified, while the fourth case clustered separately to non-C19MC amplified subclass. During the follow-up period of 6~12 months, leptomeningeal dissemination of the tumor occurred in all patients. Considering the older age of onset in DICER1-mutant ETMR, genetic counseling should be recommended due to the association of DICER1 mutations with germline and second-hit somatic mutations in cancer.","PeriodicalId":12263,"journal":{"name":"Experimental Neurobiology","volume":"32 5","pages":"354-361"},"PeriodicalIF":2.4,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10628863/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71479889","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