Clinical Neuropathology最新文献_第2页

Postmortem cerebellar and brainstem alterations in episodic ataxia type 1 and 2: Expanding the clinicopathological spectrum. 1型和2型发作性共济失调的死后小脑和脑干改变：扩大临床病理谱。

IF 0.7 4区医学

Clinical Neuropathology Pub Date : 2026-06-15 DOI: 10.5414/NP301727

Jeroen J de Vries, Maria João da Costa Caiado, Wilfred F A den Dunnen

{"title":"Postmortem cerebellar and brainstem alterations in episodic ataxia type 1 and 2: Expanding the clinicopathological spectrum.","authors":"Jeroen J de Vries, Maria João da Costa Caiado, Wilfred F A den Dunnen","doi":"10.5414/NP301727","DOIUrl":"10.5414/NP301727","url":null,"abstract":"Background: Episodic ataxias (EAs) are rare autosomal-dominant channelopathies presenting with recurrent attacks of ataxia and variable neurological features. While MRI studies suggest mild cerebellar atrophy in some patients, detailed neuropathological descriptions are lacking.Materials and methods: We examined postmortem brains and spinal cords from two genetically confirmed patients: EA1 (KCNA1 Val174Phe mutation) and EA2 (CACNA1A A253Y mutation). Routine histology and immunohistochemistry were performed.Results: In EA1, the cerebellar vermis and hemispheres showed narrowing of the folia, segmental Purkinje cell loss, Bergmann gliosis, and scattered torpedoes. The dentate nucleus contained focal lipofuscin-laden macrophages and Rosenthal fibers. Concurrently, α-synuclein pathology (Braak stage 3) was also present, along with sparse age-related tau tangles and minimal vascular amyloid. In EA2, only focal Purkinje cell loss was detected, but novel p62-positive axonal and dendritic inclusions were observed in the cerebellar cortex and inferior olive. No additional α-synuclein, tau, or amyloid pathology was found. A concurrent glioblastoma was identified as the immediate cause of death.Conclusion: These are the first detailed autopsy reports of EA1 and EA2. Both revealed cerebellar pathology, with EA1 showing more pronounced Purkinje cell degeneration, while EA2 demonstrated previously undescribed p62-positive inclusions. These findings expand the clinicopathological spectrum of EAs and highlight the value of postmortem studies in elucidating underlying disease mechanisms.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148254587","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

From genes to neuropathology: Integrative perspectives on the spectrum of spinocerebellar ataxias. 从基因到神经病理学：脊柱小脑共济失调频谱的综合观点。

IF 0.7 4区医学

Clinical Neuropathology Pub Date : 2026-05-01 DOI: 10.5414/NP301726

Jeroen J de Vries, Maria João da Costa Caiado, Wilfred F A den Dunnen

引用次数: 0

Neuronal and glial intranuclear inclusions in a patient with oculopharyngodistal myopathy associated with noncoding GGC repeat expansions in GIPC1. 与非编码GGC重复扩增相关的眼咽远端肌病患者的神经元和胶质核内包涵体

IF 0.7 4区医学

Clinical Neuropathology Pub Date : 2026-05-01 DOI: 10.5414/NP301744

Kaoru Yagita, Hotake Takizawa, Terunori Sano, Yuji Nakayma, Masashi Ogasawara, Ichizo Nishino, Yasushi Ohya, Yuji Takahashi, Masaki Takao

{"title":"Neuronal and glial intranuclear inclusions in a patient with oculopharyngodistal myopathy associated with noncoding GGC repeat expansions in GIPC1.","authors":"Kaoru Yagita, Hotake Takizawa, Terunori Sano, Yuji Nakayma, Masashi Ogasawara, Ichizo Nishino, Yasushi Ohya, Yuji Takahashi, Masaki Takao","doi":"10.5414/NP301744","DOIUrl":"10.5414/NP301744","url":null,"abstract":"Noncoding GGC repeat expansion of various genes leads to oculopharyngodistal myopathy (OPDM), an adult-onset progressive neuromuscular disorder characterized by ophthalmoplegia, pharyngeal dysfunction, and distal limb muscular weakness. Recently, clinical overlap among noncoding GGC repeat-associated neuromuscular diseases, including OPDM, fragile X-associated tremor/ataxia syndrome (FXTAS), and neuronal intranuclear inclusion disease (NIID), has been recognized. Here, we present an autopsy case of OPDM with GIPC1 mutation (OPDM2) in a 56-year-old man. Histopathological studies revealed loss of myelinated fibers in the cerebrum and the presence of neuronal and glial intranuclear inclusions, which are commonly observed in FXTAS and NIID. Numerous intranuclear inclusions in oligodendrocytes were a characteristic feature of our autopsied case. Although GGC repeat expansions in distinct genes produce similar neuropathological findings, such as neuronal and glial intranuclear inclusions, the affected cell populations differ.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"107-114"},"PeriodicalIF":0.7,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147789854","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

Progressive multifocal leukoencephalopathy as the first presentation of an underlying lymphoproliferative disorder. 进行性多灶性脑白质病是潜在淋巴细胞增生性疾病的首发表现。

IF 0.7 4区医学

Clinical Neuropathology Pub Date : 2026-05-01 DOI: 10.5414/NP301745

Jennifer Garry, Sophie Sabherwal, Seamus Looby, Francesca Brett

引用次数: 0

Rapid polymer-based immunohistochemistry for intraoperative CNS tumor diagnosis: A validation study. 基于聚合物的快速免疫组织化学用于术中中枢神经系统肿瘤诊断：一项验证研究。

IF 0.7 4区医学

Clinical Neuropathology Pub Date : 2026-05-01 DOI: 10.5414/NP301731

Julia Schuler, Sandra Baur, Federico Fusco, Felix Schicktanz, Benedikt Wiestler, Julian Canisius, Christian Mawrin, Denise Bernhardt, Arthur Wagner, Bernhard Meyer, Carolin Mogler, Claire Delbridge

{"title":"Rapid polymer-based immunohistochemistry for intraoperative CNS tumor diagnosis: A validation study.","authors":"Julia Schuler, Sandra Baur, Federico Fusco, Felix Schicktanz, Benedikt Wiestler, Julian Canisius, Christian Mawrin, Denise Bernhardt, Arthur Wagner, Bernhard Meyer, Carolin Mogler, Claire Delbridge","doi":"10.5414/NP301731","DOIUrl":"10.5414/NP301731","url":null,"abstract":"Intraoperative diagnostics in neuro-oncology face a critical gap between the morphological limitations of hematoxylin-eosin staining or toluidine blue staining and the time-intensive nature of conventional immunohistochemistry (IHC). This delay hinders real-time surgical decision-making, particularly in distinguishing gliomas, metastases, and lymphomas. To address this, we validated a novel, rapid IHC protocol utilizing directly conjugated polymerized horseradish peroxidase (pHRP) antibodies, designed to deliver results in under 30 minutes. We evaluated the performance of pan-cytokeratin (pan-CK), glial fibrillary acidic protein (GFAP), and cluster of differentiation 20 (CD20) antibodies on 115 intraoperative frozen tissue samples. Staining quality was assessed using a 4-tiered scoring system (from 0 to 3+). The cytoplasmic markers GFAP and pan-CK demonstrated excellent robustness and reliability, achieving mean scores of 2.6 and 2.47, respectively, with over 68% of cases showing strong, specific staining (3+). The membrane-bound marker CD20 showed more variability (mean score 2.07), highlighting the influence of antigen localization on this rapid protocol. Our findings demonstrate that this rapid IHC method is a viable and highly effective tool for the intraoperative differentiation of central nervous system tumors, particularly for cytoplasmic antigens. By providing crucial morphological information in near real-time, this approach has the potential to significantly enhance diagnostic precision during surgery, enabling immediate, tailored therapeutic strategies and improving patient outcomes.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"98-106"},"PeriodicalIF":0.7,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147870249","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

Clinical Neuropathology 2-2026. 临床神经病理学2-2026。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2026-03-01 DOI: 10.5414/NPP45041

Christian Mawrin

引用次数: 0

Bifocal cerebellar liponeurocytoma with atypical features: A case report and a literature review. 不典型双侧小脑脂质神经细胞瘤1例并文献复习。

IF 0.7 4区医学

Clinical Neuropathology Pub Date : 2026-03-01 DOI: 10.5414/NP301728

Maysa Al-Hussaini, Sarah Al Sharie, Saif Azzam, Madiha Erashdi, Asem Mansour, Mouness Obeidat

{"title":"Bifocal cerebellar liponeurocytoma with atypical features: A case report and a literature review.","authors":"Maysa Al-Hussaini, Sarah Al Sharie, Saif Azzam, Madiha Erashdi, Asem Mansour, Mouness Obeidat","doi":"10.5414/NP301728","DOIUrl":"10.5414/NP301728","url":null,"abstract":"Cerebellar liponeurocytoma (cLNC) is a rare tumor. It affects adults with no sex predilection. It appears as a heterogeneously enhancing mass, most commonly unifocal. Histologically, it is a biphasic neurocytic tumor with lipomatous component, with minimal atypia, and low proliferative index, corresponding to central nervous system (CNS) World Health Organization (WHO) grade 2. TP53 missense mutation is reported in 20% of cases. Gross total resection, with or without radiotherapy, is considered an adequate treatment. Bifocality and features of anaplasia are rarely reported. We are reporting a 41-year-old lady with bilateral cerebellar contrast-enhancing masses who underwent gross total resection 3 months apart. Pathology revealed features consistent with cLNC. However, the tumor resected from the right cerebellar hemisphere demonstrated atypical morphological features, including microvascular proliferation and necrosis. Ki-67 proliferative marker was estimated at 10% in the most active areas. Next-generation sequencing (NGS) revealed 2 pathogenic mutations within exonic regions of ERBB2, and PIK3CA genes, and a variant mutation of unknown significance (VUS) involving the PDGFRA gene. DNA methylation profiling confirmed the diagnosis of cLNC. The patient has been under observation without any further intervention for 70 months since diagnosis, with no evidence of disease recurrence. In addition to the rarity of cLNC, this is a unique case in terms of bifocality, anaplastic histology, and the described genetic abnormalities.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"56-65"},"PeriodicalIF":0.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147700860","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

The "Azzopardi phenomenon" in high-grade astrocytoma with a PNET-like component. 具有pnet样成分的高级别星形细胞瘤中的“Azzopardi现象”。

IF 0.7 4区医学

Clinical Neuropathology Pub Date : 2026-03-01 DOI: 10.5414/NP301641

Masayuki Shintaku, Tetsuo Hashiba, Masahiro Nonaka, Akio Asai, Koji Tsuta

引用次数: 0

Evidence of blood-brain barrier disruption in pathologic stage IV chronic traumatic encephalopathy without dementia. 无痴呆的病理期慢性创伤性脑病的血脑屏障破坏证据。

IF 0.7 4区医学

Clinical Neuropathology Pub Date : 2026-03-01 DOI: 10.5414/NP301733

Jeff Henderson, Adam McGlinchey, Bríd Murphy, Aoife Canney, Matthew Campbell, Michael Farrell

{"title":"Evidence of blood-brain barrier disruption in pathologic stage IV chronic traumatic encephalopathy without dementia.","authors":"Jeff Henderson, Adam McGlinchey, Bríd Murphy, Aoife Canney, Matthew Campbell, Michael Farrell","doi":"10.5414/NP301733","DOIUrl":"10.5414/NP301733","url":null,"abstract":"Repetitive head injury in athletes has been increasingly linked to the development of chronic traumatic encephalopathy (CTE), a progressive neurodegenerative disorder. However, its underlying pathobiology remains poorly understood, and definitive diagnosis requires post-mortem examination due to the absence of established in-life biomarkers. Here, we report the neuropathological findings in a retired elite rugby union player with a prolonged history of repetitive head impacts and progressive behavioral changes in the decade preceding his death at the age of 60. The clinical course was characterized by gradually progressive behavioral and affective disturbance in the absence of overt cognitive impairment. Neuropathological findings were consistent with stage IV CTE, with phosphorylated tau (p-Tau) deposition involving neocortical, hippocampal, and midbrain regions, and exhibiting a characteristic distribution in the sulcal depths and perivascular zones. No β-amyloid, α-synuclein, or TDP-43 pathology was identified, suggesting the absence of coexistent neurodegenerative tauopathies. Analysis of blood-brain barrier (BBB) integrity demonstrated reduced claudin-5 immunoreactivity and diffuse immunoglobulin G extravasation in the sulcal depths, overlapping with dense p-Tau deposition, suggestive of BBB dysfunction. To our knowledge, this is the first description of BBB alterations in a case of CTE without dementia or evidence of a coexisting neurodegenerative disease. While based on a single case, warranting cautious interpretation, these findings add to accumulating evidence suggesting that BBB alteration may represent a hallmark feature of CTE.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"66-75"},"PeriodicalIF":0.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147700794","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

Retrospective neuropathologic analysis of adult spinal tumors in a single neuroscience center 2018 - 2023. 2018 - 2023年单个神经科学中心成人脊柱肿瘤回顾性神经病理学分析。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2026-03-01 DOI: 10.5414/NP301722

Ciara O'Donoghue, Beibhinn Wilkins, Alan Beausang, Jane Cryan, Michael Farrell, Jennifer Garry, Ciara Heeney, Josephine Heffernan, Rachel Howley, Niamh Kernan, Seamus Looby, Arooj Fatima, Alan Power, Ashling Spillane, Andrea Walsh, Francesca M Brett

{"title":"Retrospective neuropathologic analysis of adult spinal tumors in a single neuroscience center 2018 - 2023.","authors":"Ciara O'Donoghue, Beibhinn Wilkins, Alan Beausang, Jane Cryan, Michael Farrell, Jennifer Garry, Ciara Heeney, Josephine Heffernan, Rachel Howley, Niamh Kernan, Seamus Looby, Arooj Fatima, Alan Power, Ashling Spillane, Andrea Walsh, Francesca M Brett","doi":"10.5414/NP301722","DOIUrl":"10.5414/NP301722","url":null,"abstract":"Spinal tumors are classified as extradural or intradural. The latter are further divided into intradural/extramedullary and intradural/intramedullary. The location, coupled with radiological assessment, intraoperative findings, size of biopsy, histological features, and molecular analysis serve to aid accurate diagnosis. We compiled a neuropathologic database of all adult (over 18 years) brain and spinal cord tumors diagnosed at the National Neuroscience Centre in Beaumont Hospital from 2018 to 2023. In this retrospective audit we identified 3,987 tumors, of which 90% (3,596) were intracranial and 10% (391) were spinal. The majority of the spinal tumors were intradural (n = 198) with extradural (n = 122) and intramedullary (n = 71) being much less common. In this review we outline the commonest tumors encountered, by location and age group, unusual tumors that may come to light, and difficulties that may arise, specifically with sampling.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"42-48"},"PeriodicalIF":0.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147582150","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