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Amygdala granular fuzzy astrocytes as lesions preceding development of argyrophilic grains: data from 239 autopsy cases. 杏仁核颗粒状模糊星形胶质细胞是亲银颗粒发育前的病变:239例尸检病例的数据。
Free neuropathology Pub Date : 2022-07-27 eCollection Date: 2022-01-01 DOI: 10.17879/freeneuropathology-2022-4285
Osamu Yokota, Tomoko Miki, Chikako Ikeda, Hideki Ishizu, Takashi Haraguchi, Akinori Miyashita, Takeshi Ikeuchi, Shintaro Takenoshita, Seishi Terada
{"title":"Amygdala granular fuzzy astrocytes as lesions preceding development of argyrophilic grains: data from 239 autopsy cases.","authors":"Osamu Yokota, Tomoko Miki, Chikako Ikeda, Hideki Ishizu, Takashi Haraguchi, Akinori Miyashita, Takeshi Ikeuchi, Shintaro Takenoshita, Seishi Terada","doi":"10.17879/freeneuropathology-2022-4285","DOIUrl":"10.17879/freeneuropathology-2022-4285","url":null,"abstract":"","PeriodicalId":73056,"journal":{"name":"Free neuropathology","volume":"3 ","pages":"18"},"PeriodicalIF":0.0,"publicationDate":"2022-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10240936/pdf/freeneuropathol-03-18-4285.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9592663","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}
引用次数: 0
Pigmented ependymoma, a tumor with predilection for the middle-aged adult: case report with methylation classification and review of 16 literature cases. 色素性室管膜瘤,一种好发于中年人的肿瘤:1例甲基化分类报告及16例文献复习。
Free neuropathology Pub Date : 2022-07-08 eCollection Date: 2022-01-01 DOI: 10.17879/freeneuropathology-2022-4076
Alexander S Himstead, Mari Perez-Rosendahl, Gianna M Fote, Angie Zhang, Michael G Kim, David Floriolli, Martha Quezado, Kenneth Aldape, Drew Pratt, Zied Abdullaev, Edwin S Monuki, Frank P K Hsu, William H Yong
{"title":"Pigmented ependymoma, a tumor with predilection for the middle-aged adult: case report with methylation classification and review of 16 literature cases.","authors":"Alexander S Himstead, Mari Perez-Rosendahl, Gianna M Fote, Angie Zhang, Michael G Kim, David Floriolli, Martha Quezado, Kenneth Aldape, Drew Pratt, Zied Abdullaev, Edwin S Monuki, Frank P K Hsu, William H Yong","doi":"10.17879/freeneuropathology-2022-4076","DOIUrl":"10.17879/freeneuropathology-2022-4076","url":null,"abstract":"<p><p>Ependymomas have rarely been described to contain pigment other than melanin, neuromelanin, lipofuscin or a combination. In this case report, we present a pigmented ependymoma in the fourth ventricle of an adult patient and review 16 additional cases of pigmented ependymoma from the literature. A 46-year-old female showed up with hearing loss, headaches, and nausea. Magnetic resonance imaging revealed a 2.5 cm contrast-enhancing cystic mass in the fourth ventricle, which was resected. Intraoperatively, the tumor appeared grey-brown, cystic, and was adherent to the brainstem. Routine histology revealed a tumor with true rosettes, perivascular pseudorosettes and ependymal canals consistent with ependymoma, but also showed chronic inflammation and abundant distended pigmented tumor cells that mimicked macrophages in frozen and permanent sections. The pigmented cells were positive for GFAP and negative for CD163 consonant with glial tumor cells. The pigment was negative for Fontana-Masson, positive for Periodic-acid Schiff and autofluorescent, which coincide with characteristics of lipofuscin. Proliferation indices were low and H3K27me3 showed partial loss. H3K27me 3 is an epigenetic modification to the DNA packaging protein Histone H3 that indicates the tri-methylation of lysine 27 on histone H3 protein. This methylation classification was compatible with a posterior fossa group B ependymoma (EPN_PFB). The patient was clinically well without recurrence at three-month post-operative follow-up appointment. Our analysis of all 17 cases, including the one presented, shows that pigmented ependymomas are most common in the middle-aged with a median age of 42 years and most have a favorable outcome. However, one patient that also developed secondary leptomeningeal melanin accumulations died. Most (58.8%) arise in the 4th ventricle, while spinal cord (17.6%) and supratentorial locations (17.6%) were less common. The age of presentation and generally good prognosis raise the question of whether most other posterior fossa pigmented ependymomas may also fall into the EPN_PFB group, but additional study is required to address that question.</p>","PeriodicalId":73056,"journal":{"name":"Free neuropathology","volume":"3 ","pages":"16"},"PeriodicalIF":0.0,"publicationDate":"2022-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10240947/pdf/freeneuropathol-03-16-4076.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9963468","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}
引用次数: 0
Alzheimer's disease is an inherent, natural part of human brain aging: an integrated perspective. 阿尔茨海默病是人类大脑衰老的一个固有的、自然的部分:一个综合的观点。
Free neuropathology Pub Date : 2022-07-08 eCollection Date: 2022-01-01 DOI: 10.17879/freeneuropathology-2022-3806
Isidro Ferrer
{"title":"Alzheimer's disease is an inherent, natural part of human brain aging: an integrated perspective.","authors":"Isidro Ferrer","doi":"10.17879/freeneuropathology-2022-3806","DOIUrl":"10.17879/freeneuropathology-2022-3806","url":null,"abstract":"<p><p>Alzheimer disease is one of the most challenging demons in our society due to its very high prevalence and its clinical manifestations which cause deterioration of cognition, intelligence, and emotions - the very capacities that distinguish <i>Homo sapiens</i> from other animal species. Besides the personal, social, and economical costs, late stages of AD are vivid experiences for the family, relatives, friends, and general observers of the progressive ruin of an individual who turns into a being with lower mental and physical capacities than less evolved species. A human brain with healthy cognition, conscience, and emotions can succeed in dealing with most difficulties that life may pose. Without these capacities, the same person probably cannot. Due, in part, to this emotional impact, the absorbing study of AD has generated, over the years, a fascinating and complex story of theories, hypotheses, controversies, fashion swings, and passionate clashes, together with tremendous efforts and achievements geared to improve understanding of the pathogenesis and treatment of the disorder. Familal AD is rare and linked to altered genetic information associated with three genes. Sporadic AD (sAD) is much more common and multifactorial. A major point of clinical discussion has been, and still is, establishing the differences between brain aging and sAD. This is not a trivial question, as the neuropathological and molecular characteristics of normal brain aging and the first appearance of early stages of sAD-related pathology are not easily distinguishable in most individuals. Another important point is confidence in assigning responsibility for the beginning of sAD to a few triggering molecules, without considering the wide number of alterations that converge in the pathogenesis of aging and sAD. Genetic risk factors covering multiple molecular signals are increasing in number. In the same line, molecular pathways are altered at early stages of sAD pathology, currently grouped under the aegis of normal brain aging, only to increase massively at advanced stages of the process. Sporadic AD is here considered an inherent, natural part of human brain aging, which is prevalent in all humans, and variably present or not in a few individuals in other species. The progression of the process has devastating effects in a relatively low percentage of human beings eventually evolving to dementia. The continuum of brain aging and sAD implies the search for a different approach in the study of human brain aging at the first stages of the biological process, and advances in the use of new technologies aimed at slowing down the molecular defects underlying human brain aging and sAD at the outset, and transfering information and tasks to AI and coordinated devices.</p>","PeriodicalId":73056,"journal":{"name":"Free neuropathology","volume":"3 ","pages":"17"},"PeriodicalIF":0.0,"publicationDate":"2022-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10209894/pdf/freeneuropathol-03-17-3806.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10065186","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}
引用次数: 0
Neurovascular disease: 2022 update. 神经血管疾病:2022 年更新。
Free neuropathology Pub Date : 2022-06-14 eCollection Date: 2022-01-01 DOI: 10.17879/freeneuropathology-2022-3910
Louise D McCullough
{"title":"Neurovascular disease: 2022 update.","authors":"Louise D McCullough","doi":"10.17879/freeneuropathology-2022-3910","DOIUrl":"10.17879/freeneuropathology-2022-3910","url":null,"abstract":"<p><p>In this update we present a series of papers focused on topics that have emerged in vascular disease over the prior year. The first two papers focus on the pathogenesis of vascular malformations, the first on brain arteriovenous malformations, and the second on cerebral cavernous malformations. These disorders can lead to significant brain injuries from intracerebral hemorrhage (if they rupture) or other neurological complications, including seizures. The next set of papers reflects work that has advanced our understanding of how the brain and the immune system \"communicate\" after brain injury, including stroke (papers 3-6). The first of these shows that T cells are involved in white matter repair after ischemic injury, an effect dependent on microglia, demonstrating the important cross-talk between innate and adaptive immunity. The next two papers focus on B cells, which have been relatively understudied in the context of brain injury. The contribution of antigen-experienced B cells from the meninges and skull bone marrow, rather than blood-derived B cells in neuroinflammation opens up a very novel area of investigation. The possibility that antibody secreting B cells may contribute to vascular dementia will certainly be an active area for future investigations. Similarly, in paper 6, investigators found that CNS-infiltrating myeloid cells can originate from brain borders tissues. These cells have unique transcriptional signatures that are distinct from their blood-derived counterparts, and likely contribute to myeloid cell infiltration from bone-marrow niches in close proximity to the brain. The contribution of microglia, the primary innate immune cell of the brain, to amyloid deposition and propagation is then discussed, followed by work on how perivascular Aβ is potentially cleared along the cerebral vessels in patients with cerebral amyloid angiopathy. The final two papers focus on the contribution of senescent endothelial cells and pericytes. The first used a model of accelerated senescence (Hutchinson-Gilford progeria syndrome; HGPS) and shows the translational potential of an approach to reduce telomere shortening to slow aging. The final paper demonstrates how capillary pericytes contribute to basal blood flow resistance and slow modulation of blood flow throughout the brain. Interestingly, several of the papers identified therapeutic strategies that could be potentially translated into clinical populations.</p>","PeriodicalId":73056,"journal":{"name":"Free neuropathology","volume":"3 ","pages":"15"},"PeriodicalIF":0.0,"publicationDate":"2022-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10209867/pdf/freeneuropathol-03-15-3910.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9842322","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}
引用次数: 0
5th Asian Oceanian Congress of Neuropathology along with the 5th Annual Conference of the Neuropathology Society of India (AOCN-NPSICON) - Meeting Abstracts. 第五届亚洲大洋洲神经病理学大会以及印度神经病理学学会第五届年会(AOCN-NPSICON) -会议摘要。
Free neuropathology Pub Date : 2022-05-19 eCollection Date: 2022-01-01 DOI: 10.17879/freeneuropathology-2022-4121
{"title":"5th Asian Oceanian Congress of Neuropathology along with the 5th Annual Conference of the Neuropathology Society of India (AOCN-NPSICON) - Meeting Abstracts.","authors":"","doi":"10.17879/freeneuropathology-2022-4121","DOIUrl":"10.17879/freeneuropathology-2022-4121","url":null,"abstract":"<p><p>The <b>5<sup>th</sup> Asian Oceanian Congress of Neuropathology along with the 5<sup>th</sup> Annual Conference of the Neuropathology Society of India (AOCN-NPSICON)</b> was held in virtual mode on September 24-26, 2021, at National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India, hosted by the Department of Neuropathology. It had 361 attendees from 20 countries from Asia and Oceania including India. The event brought together pathologists, clinicians and neuroscientists from all over Asia and Oceania with invited speakers from the USA, Germany and Canada. The program was very comprehensive and covered advances in the fields of neurooncology with emphasis on the upcoming WHO 2021 classification of CNS tumors, neuromuscular disorders, epilepsy and neurodegenerative disorders through key note addresses and symposia that featured 78 distinguished international and national faculty sharing their expertise. In addition, there were case-based learning modules, opportunities for paper presentations and poster sessions for young faculty and postgraduates with several awards for young investigators, best papers and posters. A highlight of the conference was a unique debate on the hot topic of the decade: Methylation-based classification of CNS tumors and a panel discussion on COVID-19. The participants were highly appreciative of the academic content.</p>","PeriodicalId":73056,"journal":{"name":"Free neuropathology","volume":"3 ","pages":"14"},"PeriodicalIF":0.0,"publicationDate":"2022-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10209898/pdf/freeneuropathol-03-14-4121.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9963464","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}
引用次数: 0
Neurodegeneration: 2022 update. 神经变性:2022年更新。
Free neuropathology Pub Date : 2022-05-10 eCollection Date: 2022-01-01 DOI: 10.17879/freeneuropathology-2022-3866
John F Crary
{"title":"Neurodegeneration: 2022 update.","authors":"John F Crary","doi":"10.17879/freeneuropathology-2022-3866","DOIUrl":"10.17879/freeneuropathology-2022-3866","url":null,"abstract":"<p><p>Here, we review a collection of recent manuscripts and research trends on the neuropathology of neurodegeneration that are considered by the author to be among the potentially most impactful. To the greatest extent possible, we chose to focus on histopathological studies that are most relevant to experimental and diagnostic neuropathology. While there has been an abundance of important recent discoveries and developments in neurodegenerative disease research, there was a deliberate effort here to provide balance to prevent disease categories and experimental approaches from overshadowing the others. The result is a diverse series of outstanding studies, together showing the landscape of progress across neurodegenerative disorders. One is a stereological study examining dystrophic microglia in aging. We highlight the first large genetic study of primary age-related tauopathy, showing convergence and divergence from classical Alzheimer's disease. There were further advances in the neuropathological criteria and staging of chronic traumatic encephalopathy. Links suggesting a causal role for <i>TMEM106B</i> in TDP-43 proteinopathy emerged. Attempts to subtype Alzheimer's disease on the molecular level were made. Evidence for a role for the <i>VEGF</i> family in cognitive impairment was advanced. Comparison of gene expression profiles from myeloid cells in peripheral blood and brain tissues from Parkinson's disease patients revealed pathways that may lead to new mechanistic insights and biomarkers. A large autopsy series identified an increased frequency of central nervous system developmental malformations in Huntington's disease. A robust and reliable system for assessing Lewy body pathology was proposed. Finally, we continue to be plagued by the COVID-19 pandemic, with lingering concerns of a long-term link with neurodegeneration.</p>","PeriodicalId":73056,"journal":{"name":"Free neuropathology","volume":"3 ","pages":"13"},"PeriodicalIF":0.0,"publicationDate":"2022-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10209853/pdf/freeneuropathol-03-13-3866.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9595266","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}
引用次数: 0
Neuropathology and epilepsy surgery: 2022 update. 神经病理学和癫痫手术:2022年更新。
Free neuropathology Pub Date : 2022-05-03 eCollection Date: 2022-01-01 DOI: 10.17879/freeneuropathology-2022-3813
Ingmar Blümcke
{"title":"Neuropathology and epilepsy surgery: 2022 update.","authors":"Ingmar Blümcke","doi":"10.17879/freeneuropathology-2022-3813","DOIUrl":"10.17879/freeneuropathology-2022-3813","url":null,"abstract":"<p><p>The impact of a precise histopathology diagnosis and molecular workup for surgical patient management remains a controversial issue in epileptology with a lack of diagnostic agreement as root cause. Very recent advances in genotype-phenotype characterization of epilepsy-associated developmental brain lesions, including the first diagnostically useful DNA methylation studies, opened new avenues and will help to finally resolve these issues. A series of most recent articles were decisively selected by the author to exemplify the areas of improvement in neuropathology and epilepsy surgery. These topics include the progress in genotype-phenotype association studies of Focal Cortical Dysplasia (FCD) leading to the discovery of new molecularly defined entities, i.e. mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE), <i>SLC35A2</i> altered. These studies also triggered the first update of the international FCD consensus classification scheme from 2011, which will hopefully support diagnostic agreement in clinical practice and research. The dilemma of new tumor entities proposed by the 5th edition of the WHO classification primarily associated with early seizure onset yet not well introduced to the epileptology community will also be discussed in the light of emerging experimental evidence when transfecting the developing murine brain with the single most important genetic alteration for both carcino- and epileptogenesis, i.e. <i>BRAF V600E.</i></p>","PeriodicalId":73056,"journal":{"name":"Free neuropathology","volume":"3 ","pages":"12"},"PeriodicalIF":0.0,"publicationDate":"2022-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10209989/pdf/freeneuropathol-03-12-3813.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9592660","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}
引用次数: 0
A potential diagnostic pitfall: Primary synovial sarcoma of the central nervous system. 一个潜在的诊断缺陷:原发性中枢神经系统滑膜肉瘤。
Free neuropathology Pub Date : 2022-04-26 eCollection Date: 2022-01-01 DOI: 10.17879/freeneuropathology-2022-3811
Arnault Tauziede-Espariat, Nicolas Macagno, Daniel Pissaloux, Dominique Figarella-Branger, Romain Appay, Dorian Bochaton, Sanaa Tazi, Paul Kauv, Lauren Hasty, Alice Métais, Fabrice Chrétien, Pascale Varlet
{"title":"A potential diagnostic pitfall: Primary synovial sarcoma of the central nervous system.","authors":"Arnault Tauziede-Espariat, Nicolas Macagno, Daniel Pissaloux, Dominique Figarella-Branger, Romain Appay, Dorian Bochaton, Sanaa Tazi, Paul Kauv, Lauren Hasty, Alice Métais, Fabrice Chrétien, Pascale Varlet","doi":"10.17879/freeneuropathology-2022-3811","DOIUrl":"10.17879/freeneuropathology-2022-3811","url":null,"abstract":"<p><p>(No abstract).</p>","PeriodicalId":73056,"journal":{"name":"Free neuropathology","volume":"3 ","pages":"11"},"PeriodicalIF":0.0,"publicationDate":"2022-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10209896/pdf/freeneuropathol-03-11-3811.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9963469","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}
引用次数: 0
My pathway to a career in neuropathology. 我通往神经病理学的道路。
Free neuropathology Pub Date : 2022-04-12 eCollection Date: 2022-01-01 DOI: 10.17879/freeneuropathology-2022-3809
Clive Harper
{"title":"My pathway to a career in neuropathology.","authors":"Clive Harper","doi":"10.17879/freeneuropathology-2022-3809","DOIUrl":"10.17879/freeneuropathology-2022-3809","url":null,"abstract":"<p><p>(No abstract).</p>","PeriodicalId":73056,"journal":{"name":"Free neuropathology","volume":"3 ","pages":"10"},"PeriodicalIF":0.0,"publicationDate":"2022-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10209900/pdf/freeneuropathol-03-10-3809.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9591397","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}
引用次数: 0
Neurodevelopmental disorders: 2022 update. 神经发育障碍:2022年更新。
Free neuropathology Pub Date : 2022-03-21 eCollection Date: 2022-01-01 DOI: 10.17879/freeneuropathology-2022-3801
Miguel Sabariego-Navarro, Álvaro Fernández-Blanco, Cesar Sierra, Mara Dierssen
{"title":"Neurodevelopmental disorders: 2022 update.","authors":"Miguel Sabariego-Navarro, Álvaro Fernández-Blanco, Cesar Sierra, Mara Dierssen","doi":"10.17879/freeneuropathology-2022-3801","DOIUrl":"10.17879/freeneuropathology-2022-3801","url":null,"abstract":"<p><p>With a prevalence of 2-4% of the worldwide population, neurodevelopmental disorders (NDDs) comprise a heterogeneous group of disorders associated with neurodevelopmental dysfunction, including intellectual disability (ID), autism spectrum disorder (ASD), Down syndrome (DS) and attention-deficit/hyperactivity disorder (ADHD) among others. However, due to their heterogeneity and overlapping clinical features, NDDs such as ASD are often misdiagnosed, while for others with more distinct symptoms, such as Rett syndrome or DS, the mechanisms underlying their pathogenesis remain elusive. Last year, important steps in the mechanistic understanding of several NDDs have been achieved. New preclinical models demonstrated causality between <i>PAK3</i> mutations and disorders associated with social deficiencies. <i>ARID1B</i> mutations have been linked to neuroectoderm specification in Coffin-Siris syndrome and DNA damage was established as an important pathologic mechanism in Aicardi-Goutières syndrome. Moreover, alterations in basic molecular processes including translation and histone acetylation have been established as major traits in the pathology of X-linked ID and Rett syndrome, revealing new pathogenetic mechanisms. Last year, advances in bioinformatics have begun to shed light on the human repeatome, a largely unexplored part of our genome, and how alterations in these sequences have a central role in ASD. The role of mitochondria in neuropathology was clarified last year with the discovery of previously unknown vesicles derived from mitochondria with a putative role in DS. An interesting discovery in the field of basic neurodevelopment showed that during postnatal brain development, changes in genome architecture and transcriptional dynamics progress independently of sensory experience. Finally, our neurocentric views of NDDs are changing as new players such as astrocytes are revealed to be crucial in neuropathology. The role of astrocytes has been clarified for some pathologies such as ASD and DS, linking well-known genetic mutations to impaired astrocyte function.</p>","PeriodicalId":73056,"journal":{"name":"Free neuropathology","volume":"3 ","pages":"8"},"PeriodicalIF":0.0,"publicationDate":"2022-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10209850/pdf/freeneuropathol-03-08-3801.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9592659","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}
引用次数: 0
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