Neuropathology最新文献

Embryonal tumor with multilayered rosettes, DICER1-mutated, showing histologically unique neuronal differentiation after chemoradiotherapy. 胚胎性肿瘤，具有多层玫瑰花，dicer1突变，在放化疗后显示组织学上独特的神经元分化。

IF 1.3 4区医学

Neuropathology Pub Date : 2025-08-01 Epub Date: 2025-01-14 DOI: 10.1111/neup.13027

Ayako Yamazaki, Chikako Kiyotani, Kimikazu Matsumoto, Takako Yoshioka, Hideaki Yokoo, Junko Hirato, Sumihito Nobusawa

{"title":"Embryonal tumor with multilayered rosettes, DICER1-mutated, showing histologically unique neuronal differentiation after chemoradiotherapy.","authors":"Ayako Yamazaki, Chikako Kiyotani, Kimikazu Matsumoto, Takako Yoshioka, Hideaki Yokoo, Junko Hirato, Sumihito Nobusawa","doi":"10.1111/neup.13027","DOIUrl":"10.1111/neup.13027","url":null,"abstract":"Embryonal tumors with multilayered rosettes (ETMRs) are rare and highly aggressive embryonal central nervous system tumors that predominantly affect infants younger than 3 years old. These tumors typically have a C19MC alteration (ETMR, C19MC-altered) or, more rarely, a DICER1 mutation (ETMR, DICER1-mutated). Post-chemotherapeutic or post-chemoradiotherapeutic histological changes of C19MC-altered ETMRs, such as maturation or loss of histological characteristics of ETMR have been described in several reports. However, histological changes of recurrent DICER1-mutated ETMRs have not been reported to date. Herein, we report a case of DICER1-mutated ETMR with unique post-treatment morphological changes, including both maturation and loss of histological characteristics. Although pathological examination of tissue from the first resection revealed typical ETMR histology, the recurrent tumor after chemoradiotherapy was composed predominantly of a primitive embryonal component without multilayered rosettes or neuropil-like areas. Furthermore, the recurrent tumor contained a component composed of unique tumor cells with oval eccentric nuclei and eosinophilic cytoplasm demonstrating a neuronal immunohistohemical phenotype. No mitotic figures were found in the component. Molecular analysis identified a mutation in the DICER1 RNase IIIb domain in the primary tumor and the primitive embryonal component of the recurrent tumor, but not in the unique neuronal area.","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":"e13027"},"PeriodicalIF":1.3,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142983751","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

Astroblastoma With MN1::BEND2 Fusion Showing an Atypical Signal Pattern in MN1 Break-Apart FISH: A Potential Diagnostic Pitfall. MN1::BEND2融合星形母细胞瘤在MN1分裂FISH中显示非典型信号模式：一个潜在的诊断缺陷。

IF 1.2 4区医学

Neuropathology Pub Date : 2025-08-01 Epub Date: 2025-05-15 DOI: 10.1111/neup.70010

Takahiro Shirakura, Noriaki Sakamoto, Yasuhito Arai, Natsuko Hama, Hiroyoshi Kino, Haruna Okuno, Ayako Yamazaki, Nozomi Matsumura, Hideaki Yokoo, Tatsuhiro Shibata, Sumihito Nobusawa, Eiichi Ishikawa

引用次数: 0

An autopsy case of coexisting spinal and bulbar muscular atrophy and multiple system atrophy. 脊髓、球性肌萎缩合并多系统萎缩尸检1例。

IF 1.3 4区医学

Neuropathology Pub Date : 2025-08-01 Epub Date: 2025-02-06 DOI: 10.1111/neup.13031

Motoki Miura, Hiroshi Shintaku, Yoshiyuki Numasawa, Kokoro Ozaki, Tadashi Kanouchi, Kinya Ishikawa, Takanori Yokota

{"title":"An autopsy case of coexisting spinal and bulbar muscular atrophy and multiple system atrophy.","authors":"Motoki Miura, Hiroshi Shintaku, Yoshiyuki Numasawa, Kokoro Ozaki, Tadashi Kanouchi, Kinya Ishikawa, Takanori Yokota","doi":"10.1111/neup.13031","DOIUrl":"10.1111/neup.13031","url":null,"abstract":"Here, we report an autopsy case of concurrent spinal and bulbar muscular atrophy (SBMA) and multiple system atrophy (MSA). A 55-year-old man presented with weakness, atrophy, and fasciculation of the tongue and the proximal parts of all limbs. The patient gradually developed severe orthostatic hypotension, urinary retention, and cerebellar ataxia; however, no parkinsonism was observed. The patient succumbed to sudden death during sleep. The autopsy revealed widespread and abundant α-synuclein-positive glial cytoplasmic inclusions in the central nervous system, indicative of MSA. Neuronal loss was also observed in the substantia nigra and locus coeruleus. Consequently, the patient was diagnosed with MSA. Additionally, immunostaining for the monoclonal 1C2 antibody revealed positive neurons in the medulla oblongata and spinal cord, supporting the additional diagnosis of SBMA. Genetic analysis revealed an expansion of 41 CAG repeats in the androgen receptor (AR) gene (normal range: 12-38), confirming the diagnosis of SBMA. Altogether, concurrent SBMA and MSA were diagnosed based on the autopsy findings, making this the first reported case of such coexistence in the Japanese and English literature.","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":"e13031"},"PeriodicalIF":1.3,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143365303","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

Bridging minds: Participant perspectives on postmortem brain research and engagement. 衔接思想：参与者对死后大脑研究和参与的看法。

IF 1.3 4区医学

Neuropathology Pub Date : 2025-08-01 Epub Date: 2025-02-07 DOI: 10.1111/neup.13030

Yusuke Inoue, Maki Obata, Maho Morishima, Shigeo Murayama, Yuko Saito

{"title":"Bridging minds: Participant perspectives on postmortem brain research and engagement.","authors":"Yusuke Inoue, Maki Obata, Maho Morishima, Shigeo Murayama, Yuko Saito","doi":"10.1111/neup.13030","DOIUrl":"10.1111/neup.13030","url":null,"abstract":"Postmortem research participation remains underrepresented in research ethics discussions. Herein, we examined the associated perspectives of individuals preregistered with the Brain Bank for Aging Research at the Tokyo Metropolitan Institute of Gerontology. We conducted a postal survey targeting 88 preregistrants, yielding 52 responses (response rate: 59.1%, average respondent age: 79.5 years, range: 49-97). The questionnaire gathered information on the reasons for agreeing to participate, helpful information provided during the explanation, and expectations regarding future information. The stated reasons for participating included a desire to contribute to science, gratitude for medical care received, memories of relatives' past donations, and inspiration from staff enthusiasm and materials. Beneficial information was given in brochures, coordinator explanations, and lectures; however, guidance for family members regarding postmortem procedures and updates on recent activities and research outcomes were highlighted as areas requiring future improvement. Willingness to participate in brain banks was influenced by altruistic factors, personal medical experiences, and the influence of statements from close contacts. Registrants maintained their interest after registration and prepare for future arrangements. Family cooperation was identified as a critical factor influencing the fulfillment of participant intentions, emphasizing the need for accessible and low-burden family guidance. Registrants generally seek information to help family members and associates avoid difficulties related to their participation. Brain banks should continue conducting such surveys for registrants and reflect the findings in their information dissemination and educational programs. This approach will help improve the understanding and support for brain bank participation, ultimately contributing to the advancement of medical research and ethics in postmortem studies.","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":"e13030"},"PeriodicalIF":1.3,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12279472/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143365304","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

A DRPLA-Affected Family: Clinical Course and Autopsy Findings in a Long-Surviving Case. 一个受drpla影响的家庭：一个长期存活病例的临床过程和尸检结果。

IF 1.2 4区医学

Neuropathology Pub Date : 2025-08-01 Epub Date: 2025-04-09 DOI: 10.1111/neup.70007

Yoko Mochizuki, Akira Arakawa, Miho Osako, Tomoyasu Matsubara, Tomio Arai, Yuko Saito

{"title":"A DRPLA-Affected Family: Clinical Course and Autopsy Findings in a Long-Surviving Case.","authors":"Yoko Mochizuki, Akira Arakawa, Miho Osako, Tomoyasu Matsubara, Tomio Arai, Yuko Saito","doi":"10.1111/neup.70007","DOIUrl":"10.1111/neup.70007","url":null,"abstract":"A long-surviving older sister and her younger brother, both with a juvenile type of DRPLA, were autopsied. They had 69 and 77 CAG repeats in the atrophin-1 gene (ATN1), respectively. The older sister developed intellectual disability at the age of 10 years, followed by epilepsy, and survived for 40 years supported by tube feeding and tracheostomy with laryngeal closure without signs of anoxia and malnutrition. As the disease progressed, brain CT revealed a progressive skull thickening alongside brain atrophy. The younger brother, who had developmental delay at the age of 3 years, died of status epilepticus aged 24 years. Their father developed cerebellar ataxia at 56 years old when his daughter was 27 years old, and the expanded allele had 63 CAG repeats in ATN1. His clinical course was characterized by the sudden onset of severe psychiatric symptoms and choreatic movement. He died of aspiration pneumonia and suffered from malignant lymphoma aged 72 years. Neuropathological examination of this older sister with extended survival of DRPLA revealed a thickened skull, atrophic brainstem and cerebellum, and a thin spinal cord. We found neuronal loss and gliosis across a wide range of brain regions in addition to severe degeneration of the dentatorubral and pallidoluysian systems along with regions previously reported to exhibit polyglutamine pathology. In contrast, some regions previously reported to exhibit polyglutamine pathology remained preserved. The cerebellar cortex showed three-layer degeneration, and changes in the cerebral white matter appeared to correspond to lesions in the cerebral cortex.","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":"e70007"},"PeriodicalIF":1.2,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144037996","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

Diagnostic Performance of ChatGPT-4.0 in Histopathological Analysis of Gliomas: A Single Institution Experience. ChatGPT-4.0在胶质瘤组织病理学分析中的诊断性能：单一机构经验。

IF 1.2 4区医学

Neuropathology Pub Date : 2025-08-01 DOI: 10.1111/neup.70023

Manuel Mazzucchelli, Serena Salzano, Rosario Caltabiano, Gaetano Magro, Francesco Certo, Giuseppe Barbagallo, Giuseppe Broggi

{"title":"Diagnostic Performance of ChatGPT-4.0 in Histopathological Analysis of Gliomas: A Single Institution Experience.","authors":"Manuel Mazzucchelli, Serena Salzano, Rosario Caltabiano, Gaetano Magro, Francesco Certo, Giuseppe Barbagallo, Giuseppe Broggi","doi":"10.1111/neup.70023","DOIUrl":"10.1111/neup.70023","url":null,"abstract":"This study aimed to evaluate the performance of ChatGPT-4.0 as a diagnostic support tool for pathologists in identifying different types of gliomas based on histopathological data and to compare its performance with that of another artificial intelligence tool (Gemini 2.5 Pro). A retrospective analysis was performed on 25 cases with histopathological descriptions. The dataset, anonymized for patient confidentiality, included clinical details such as age, sex, and site, along with two histological images for each case, obtained from the archive files of the Anatomic Pathology section, Department of Medical, Surgical Sciences and Advanced Technologies \"G.F. Ingrassia\" University of Catania, Italy. ChatGPT-4.0 was tasked with generating diagnoses, which were classified as correct, similar, or different when compared to the pathologists' conclusions and the diagnoses provided by Gemini. ChatGPT-4.0 achieved a diagnostic accuracy of 88%, correctly identifying 22 out of 25 cases. No significant differences in diagnostic performance were observed between male and female patients. The AI performed exceptionally well in diagnosing glioblastomas, with a 100% accuracy rate, while two oligodendrogliomas and one astrocytoma IDH-mutant G3 were misdiagnosed. A comparative evaluation with Gemini 2.5 Pro was also conducted, although its contribution was limited to a qualitative comparison based on the same dataset. ChatGPT-4.0 demonstrated moderate accuracy in the histopathological diagnosis of gliomas, with little variability depending on glioma subtype. While its performance highlights potential for future integration into clinical workflows, significant improvements are required to ensure its reliability and effectiveness in diagnostic applications. Trial Registration: ce 165/2015/PO.","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":"45 4","pages":"e70023"},"PeriodicalIF":1.2,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12305399/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732452","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

The Monocarboxylate Transporters MCT1 and MCT4 Are Highly Expressed in Glioblastoma and Crucially Implicated in the Pathobiology. 单羧酸转运体MCT1和MCT4在胶质母细胞瘤中高表达并与病理生物学密切相关。

IF 1.2 4区医学

Neuropathology Pub Date : 2025-08-01 Epub Date: 2025-03-27 DOI: 10.1111/neup.70006

Minakshi M Behera, Suvendu Purkait, Amit Ghosh, Mukund N Sable, Rabi Narayan Sahu, Gaurav Chhabra

{"title":"The Monocarboxylate Transporters MCT1 and MCT4 Are Highly Expressed in Glioblastoma and Crucially Implicated in the Pathobiology.","authors":"Minakshi M Behera, Suvendu Purkait, Amit Ghosh, Mukund N Sable, Rabi Narayan Sahu, Gaurav Chhabra","doi":"10.1111/neup.70006","DOIUrl":"10.1111/neup.70006","url":null,"abstract":"Monocarboxylate transporters (MCTs) are crucially implicated in cancer cell metabolism by transporting lactate/H+ ions and thus regulating the pH of the microenvironment. We assessed MCT1 and MCT4 expression in 98 cases of adult-type hemispheric Glioblastomas (GBMs) (IDH wild-type), along with 51 cases of IDH-mutant astrocytic and oligodendroglial tumors (grade 2-4) for comparison. U87MG and LN229 cell lines were used for in vitro analysis. Both MCT-1 and MCT-4 showed significantly higher expression in GBMs on immunohistochemistry than in IDH-mutated gliomas, which mostly showed weak or negative immunoreactivity. The mRNA expression was also in a similar line. Interestingly, in all areas of the pathological endothelial proliferation of grade 4 tumors, there was MCT-1 loss of expression, unlike the nonproliferating endothelium. High MCT1/4 expression was associated with shorter overall survival in all gliomas together but not in GBM separately. Syrosingopine, a dual MCT1/4 inhibitor, showed significant antitumor effects in both the glioma cell lines, including dose-dependent cytotoxicity, increased apoptosis, and decreased migration/invasion. The results indicated the role of MCT1/4 in the pathobiology of GBM and the diagnostic utility at the immunohistochemical level. Syrosingopine, an antihypertensive agent with good CNS penetration and previously used in different malignancies, may be an essential therapeutic adjunct in GBM.","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":"e70006"},"PeriodicalIF":1.2,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143720879","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

Case Report and Literature Review: Overexpression of HMGA in Concomitant Plurihormonal Tumor and Papillary Thyroid Carcinoma. 病例报告及文献复习：HMGA在合并多激素类肿瘤及甲状腺乳头状癌中的过表达。

IF 1.2 4区医学

Neuropathology Pub Date : 2025-08-01 Epub Date: 2025-03-20 DOI: 10.1111/neup.70005

Yue Li, Yun Shi, Doudou Chen, Minhong Pan, Xuqin Zheng

{"title":"Case Report and Literature Review: Overexpression of HMGA in Concomitant Plurihormonal Tumor and Papillary Thyroid Carcinoma.","authors":"Yue Li, Yun Shi, Doudou Chen, Minhong Pan, Xuqin Zheng","doi":"10.1111/neup.70005","DOIUrl":"10.1111/neup.70005","url":null,"abstract":"This study described a case of plurihormonal tumor associated with papillary thyroid carcinoma (PTC) and summarized the treatment approaches for similar cases, while also exploring the underlying pathogenesis. The patient exhibited symptoms indicative of acromegaly, central hyperthyroidism, and hyperprolactinemia. A glucose loading test demonstrated persistently elevated growth hormone (GH) levels, while thyroid function tests revealed inappropriate thyroid stimulating hormone (TSH) secretion. Imaging of the pituitary gland revealed a 26 × 19 mm lesion compressing the optic chiasm. Thyroid ultrasound reveals bilateral Thyroid Imaging Reporting and Data System 4B nodules, with the largest on the right measuring 27 × 20 mm. Fine-needle aspiration cytology (FNAC) revealed the presence of PTC. Three weeks later, the patient underwent pituitary adenomectomy. Immunohistochemistry revealed a plurihormonal tumor positive for TSH, GH, luteinizing hormone (LH), prolactin (PRL), pituitary-specific transcription factor 1 (Pit1), and steroidogenic factor 1 (SF1). A total thyroidectomy followed 10 weeks post-adenomectomy. Immunohistochemical evaluation showed higher nuclear positivity for the high-mobility group AT-hook 1 (HMGA1) and the high-mobility group AT-hook 2 (HMGA2) proteins in neoplastic cells compared to normal tissues. In our search results, only three similar cases were identified, and we summarized the relevant literature search results which raise the possibility that the HMGA2-the Retinoblastoma Protein (pRB)/E2F Transcription Factor 1 (E2F1)-HMGA1 signaling pathway may represent a common pathogenic pathway for PTC and plurihormonal tumor. If a patient simultaneously suffers from PTC and plurihormonal tumor, the determination of the surgical sequence is crucial. In cases of postoperative recurrence, where patients are reluctant to undergo additional surgeries, targeting HMGA is likely to offer a promising approach to prevent the progression of both the pituitary tumors and PTC.","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":"e70005"},"PeriodicalIF":1.2,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143670350","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

Vanishing Contrast Enhancement of a Diffuse Midline Glioma. 弥漫性中线胶质瘤造影增强消失。

IF 1.2 4区医学

Neuropathology Pub Date : 2025-08-01 Epub Date: 2025-02-19 DOI: 10.1111/neup.70002

Charles Champeaux Depond, Philippe Metellus, Emmanuel Gross, Romain Appay

{"title":"Vanishing Contrast Enhancement of a Diffuse Midline Glioma.","authors":"Charles Champeaux Depond, Philippe Metellus, Emmanuel Gross, Romain Appay","doi":"10.1111/neup.70002","DOIUrl":"10.1111/neup.70002","url":null,"abstract":"Diffuse midline glioma, is a highly aggressive deep-seated glioma whose diagnosis must be confirmed through histopathological analysis of stereotactic biopsies. Hemorrhagic complications after intracranial biopsies may occur, potentially leading to severe neurological sequelae or significantly altering the outcome. A 55-year old male with no significant medical history presented to the local emergency department with 4 days of diplopia. A magnetic resonance imaging (MRI) confirmed the presence of tumor whose characteristics were highly suggestive of a high-grade infiltrating causing blocked hydrocephalus. As no safe resection was achievable, a third ventriculostomy followed by an endoscopic biopsy of the tumor was performed. Unfortunately, the procedure was complicated by an massive intraventricular bleeding of the tumor and, the tiny tumor specimens collected were not contributive. Fortunately, the patient survived and, his clinical state slowly improved. Follow up MRIs depicted a progressive regression of the tumor. As such a wait and see policy was preferred over a chemoradiotherapy. Ultimately, the gadolinium enhancement totally vanished. Unfortunately, 27 months after the initial presentation, he presented with a quick neurological worsening with severe hemiparesis and seizures for which cerebral imaging showed a malignant-looking deep-situated unresectable brain tumor. A second biopsy was performed without any specific complication. The histopathological examination of the tumor revealed a high-grade glial tumor characterized by hypercellularity, marked atypia, mitosis, microvascular proliferation, and areas of necrosis with positive H3 p.K28M nuclear staining in combination with the loss of nuclear H3 p.K28me3. He was referred for best supportive care and, died 29.6 months after the initial presentation. To our knowledge, this is the first report of the gadolinium enhancement of a diffuse midline glioma H3 K27-altered.","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":"e70002"},"PeriodicalIF":1.2,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458757","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

An Autopsy Case of Amyotrophic Lateral Sclerosis With Sudden Death Showed Histological Features of Lewy Body Disease. 一例肌萎缩性侧索硬化症猝死的尸检显示路易体病的组织学特征。

IF 1.2 4区医学

Neuropathology Pub Date : 2025-08-01 Epub Date: 2025-04-28 DOI: 10.1111/neup.70009

Shunsuke Miyachi, Yuki Oshima, Kazuo Yazaki, Nozomi Futaki, Yusuke Shirai, Zen-Ichi Tanei, Yohei Ikebe, Ikuko Iwata, Hideki Ujiie, Masahiro Onozawa, Satoshi Hirano, Shinya Tanaka, Ichiro Yabe

{"title":"An Autopsy Case of Amyotrophic Lateral Sclerosis With Sudden Death Showed Histological Features of Lewy Body Disease.","authors":"Shunsuke Miyachi, Yuki Oshima, Kazuo Yazaki, Nozomi Futaki, Yusuke Shirai, Zen-Ichi Tanei, Yohei Ikebe, Ikuko Iwata, Hideki Ujiie, Masahiro Onozawa, Satoshi Hirano, Shinya Tanaka, Ichiro Yabe","doi":"10.1111/neup.70009","DOIUrl":"10.1111/neup.70009","url":null,"abstract":"We present the case of an 81-year-old man diagnosed with probable amyotrophic lateral sclerosis (ALS) based on the Updated Awaji criteria. The patient exhibited progressive motor neuron degeneration with muscle weakness, atrophy, and fasciculations primarily in the right lower limb and later extending to the right upper limb. Three months after being referred to a home care clinic, he collapsed in front of his family members and died. An autopsy revealed phosphorylated TDP-43 pathology consistent with ALS, with involvement of the hypoglossal nucleus, facial nerve nucleus, and medulla oblongata. Interestingly, widespread a-synuclein pathology indicative of diffuse neocortical type Lewy body disease (LBD; Braak stage 6) was identified, despite the absence of clinical parkinsonism or dementia with Lewy bodies (DLB) during his lifetime. The presence of autonomic symptoms such as constipation and urinary retention shortly before death may be attributable to a-synuclein pathology affecting the autonomic nervous system. The coexistence of ALS and LBD underscores the clinical challenge of diagnosing overlapping pathologies, as motor symptoms may obscure signs of LBD. Dopamine transporter imaging or MIBG myocardial scintigraphy might aid in identifying preclinical LBD in ALS patients with atypical symptoms. The patient died of respiratory failure due to extensive organizing pneumonia, but the possibility of sudden cardiac arrest could not be excluded. This case highlights the potential for coexisting neurodegenerative pathologies in ALS, emphasizing the importance of comprehensive evaluation when autonomic symptoms or other atypical features are present.","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":"e70009"},"PeriodicalIF":1.2,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036399","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