Neuropathology最新文献

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Correction to "Familial idiopathic basal ganglia calcification with a heterozygous missense variant (c.902C > T/p.P307L) in SLC20A2 showing widespread cerebrovascular lesions". 更正“具有杂合错义变体的家族性特发性基底节钙化(c.902C > T/p.P307L)显示广泛的脑血管病变”。
IF 2.3 4区 医学
Neuropathology Pub Date : 2024-02-01 Epub Date: 2023-09-25 DOI: 10.1111/neup.12945
{"title":"Correction to \"Familial idiopathic basal ganglia calcification with a heterozygous missense variant (c.902C > T/p.P307L) in SLC20A2 showing widespread cerebrovascular lesions\".","authors":"","doi":"10.1111/neup.12945","DOIUrl":"10.1111/neup.12945","url":null,"abstract":"","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":"84"},"PeriodicalIF":2.3,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41158340","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
Ribosomal protein SA is a common component of neuronal intranuclear inclusions in polyglutamine diseases and Marinesco bodies. 核糖体蛋白 SA 是多聚谷氨酰胺疾病和马林斯科体中神经元核内包涵体的常见成分。
IF 2.3 4区 医学
Neuropathology Pub Date : 2024-02-01 Epub Date: 2023-06-21 DOI: 10.1111/neup.12927
Kaoru Yagita, Shoko Sadashima, Sachiko Koyama, Hideko Noguchi, Hideomi Hamasaki, Naokazu Sasagasako, Hiroyuki Honda
{"title":"Ribosomal protein SA is a common component of neuronal intranuclear inclusions in polyglutamine diseases and Marinesco bodies.","authors":"Kaoru Yagita, Shoko Sadashima, Sachiko Koyama, Hideko Noguchi, Hideomi Hamasaki, Naokazu Sasagasako, Hiroyuki Honda","doi":"10.1111/neup.12927","DOIUrl":"10.1111/neup.12927","url":null,"abstract":"<p><p>Neuronal intranuclear inclusions (NIIs) are common key structures in polyglutamine (polyQ) diseases such as Huntington disease (HD), spinocerebellar ataxia type 1 (SCA1), and SCA3. Marinesco bodies (MBs) of dopaminergic neurons in the substantia nigra are also intranuclear structures and are frequently seen in normal elderly people. Ribosomal dysfunction is closely related to two differential processes; therefore, we aimed to identify the pathological characteristics of ribosomal protein SA (RPSA), a ribosomal protein, in both states. To this end, we evaluated the autopsy findings in four patients with HD, two SCA3, and five normal elderly cases (NCs). Immunohistochemical studies demonstrated that both NIIs and MBs contain RPSA. In polyQ diseases, RPSA was co-localized with polyQ aggregations, and 3D-reconstructed images revealed their mosaic-like distribution. Assessments of the organization of RPSA and p62 in NIIs showed that RPSA was more localized toward the center than p62 and that this unique organization was more evident in the MBs. Immunoblotting of the temporal cortices revealed that the nuclear fraction of HD patients contained more RPSA than that of NCs. In conclusion, our study revealed that RPSA is a common component of both NIIs and MBs, indicating that a similar mechanism contributes to the formation of polyQ NIIs and MBs.</p>","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":"31-40"},"PeriodicalIF":2.3,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9672980","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
Prednisolone improves hippocampal regeneration after trimethyltin-induced neurodegeneration in association with prevention of T lymphocyte infiltration. 泼尼松龙能改善三甲基锡诱导的神经退行性病变后的海马再生,并能防止T淋巴细胞浸润。
IF 2.3 4区 医学
Neuropathology Pub Date : 2024-02-01 Epub Date: 2023-06-08 DOI: 10.1111/neup.12926
Masashi Sakurai, Miki Takenaka, Yuki Mitsui, Yusuke Sakai, Masahiro Morimoto
{"title":"Prednisolone improves hippocampal regeneration after trimethyltin-induced neurodegeneration in association with prevention of T lymphocyte infiltration.","authors":"Masashi Sakurai, Miki Takenaka, Yuki Mitsui, Yusuke Sakai, Masahiro Morimoto","doi":"10.1111/neup.12926","DOIUrl":"10.1111/neup.12926","url":null,"abstract":"<p><p>The endogenous regenerative capacity of the brain is quite weak; however, a regenerative reaction, the production of new neurons (neurogenesis), has been reported to occur in brain lesions. In addition, leukocytes are well known to infiltrate brain lesions. Therefore, leukocytes would also have a link with regenerative neurogenesis; however, their role has not been fully elucidated. In this study, we investigated leukocyte infiltration and its influence on brain tissue regeneration in a trimethyltin (TMT)-injected mouse model of hippocampal regeneration. Immunohistochemically, CD3-positive T lymphocytes were found in the hippocampal lesion of TMT-injected mice. Prednisolone (PSL) treatment inhibited T lymphocyte infiltration and increased neuronal nuclei (NeuN)-positive mature neurons and doublecortin (DCX)-positive immature neurons in the hippocampus. Investigation of bromodeoxyuridine (BrdU)-labeled newborn cells revealed the percentage of BrdU/NeuN- and BrdU/DCX-positive cells increased by PSL treatment. These results indicate that infiltrated T lymphocytes prevent brain tissue regeneration by inhibiting hippocampal neurogenesis.</p>","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":"21-30"},"PeriodicalIF":2.3,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9948260","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
Pathology for severe inflammatory PML with PD1/PD-L1 expression of favorable prognosis: What's a prognostic factor for PML-IRIS? 重症炎性PML病理结果显示PD1/PD-L1表达预后良好:PML-IRIS的预后因素是什么?
IF 2.3 4区 医学
Neuropathology Pub Date : 2024-02-01 Epub Date: 2023-07-09 DOI: 10.1111/neup.12929
Yukiko Shishido-Hara, Jiro Akimoto, Shinjiro Fukami, Michihiro Kohno, Jun Matsubayashi, Toshitaka Nagao
{"title":"Pathology for severe inflammatory PML with PD1/PD-L1 expression of favorable prognosis: What's a prognostic factor for PML-IRIS?","authors":"Yukiko Shishido-Hara, Jiro Akimoto, Shinjiro Fukami, Michihiro Kohno, Jun Matsubayashi, Toshitaka Nagao","doi":"10.1111/neup.12929","DOIUrl":"10.1111/neup.12929","url":null,"abstract":"<p><p>A 72-year-old woman with dermatomyositis (DM) developed neurological manifestation, and magnetic resonance imaging (MRI) revealed multiple T2/fluid-attenuated inversion recovery (FLAIR)-hyperintense lesions predominantly in the deep white matter of the cerebral hemisphere. Punctate or linear contrast enhancement was observed surrounding the T1-hypointense area. Multiple T2/FLAIR-hyperintense lesions were aligned along with the corona radiata. Malignant lymphoma was first suspected, and a brain biopsy was performed. Pathological investigation suggested the provisional diagnosis of \"suspicious of malignant lymphoma.\" Owing to emergent clinical conditions, high-dose methotrexate (MTX) therapy was conducted, and then T2/FLAIR-hyperintense lesions were dramatically reduced. However, the diagnosis of malignant lymphoma was concerning since multiplex PCR demonstrated clonal restriction of the Ig H gene for B cells and TCR beta genes for T cells. Histopathology revealed the infiltration of both CD4<sup>+</sup> and CD8<sup>+</sup> T cells, and the CD4<sup>+</sup> /CD8<sup>+</sup> ratio was 4.0. Moreover, prominent plasma cells were observed, in addition to CD20<sup>+</sup> B cells. Atypical cells with enlarged nuclei were present, and they were not hematopoietic but found as glial cells. JC virus (JCV) infection was verified with both immunohistochemistry and in situ hybridization; the final diagnosis was progressive multifocal leukoencephalopathy (PML). The patient was treated with mefloquine and discharged. This case is informative in understanding the host anti-viral response. Variable inflammatory cells were observed, including CD4<sup>+</sup> and CD8<sup>+</sup> T cells, plasma cells, and a small amount of perivascular CD20<sup>+</sup> B cells. PD-1 and PD-L1 expression was observed in lymphoid cells and macrophages, respectively. PML with inflammatory reactions was thought fatal, and autopsy cases of PML with immune reconstitution inflammatory syndrome (IRIS) demonstrated excessive infiltration of only CD8<sup>+</sup> T cells. However, this case revealed infiltration of variable inflammatory cells, and a favorable prognosis would be expected under PD-1/PD-L1 immune-checkpoint regulation.</p>","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":"47-58"},"PeriodicalIF":2.3,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9761087","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
Pituitary apoplexy in endocrinologically silent adenoma during somatostatin analog administration for pancreatic neuroendocrine tumor: A case report 在使用体生长抑素类似物治疗胰腺神经内分泌肿瘤期间,内分泌学上沉默的腺瘤出现垂体中风:病例报告
IF 2.3 4区 医学
Neuropathology Pub Date : 2023-12-15 DOI: 10.1111/neup.12959
Keitaro Shiraishi, Takuya Akai, Takahiro Tomita, Ryuji Hayashi, Takashi Minamisaka, Satoshi Kuroda
{"title":"Pituitary apoplexy in endocrinologically silent adenoma during somatostatin analog administration for pancreatic neuroendocrine tumor: A case report","authors":"Keitaro Shiraishi, Takuya Akai, Takahiro Tomita, Ryuji Hayashi, Takashi Minamisaka, Satoshi Kuroda","doi":"10.1111/neup.12959","DOIUrl":"https://doi.org/10.1111/neup.12959","url":null,"abstract":"A dopamine agonist administered for prolactinoma treatment and pituitary stimulation tests are reported as risk factors for pituitary apoplexy. We report a case of an 82-year-old patient who suffered from pituitary apoplexy in an endocrinologically silent adenoma during lanreotide administration. The patient was diagnosed with a pancreatic neuroendocrine tumor with lymph node metastasis and treated with lanreotide for two years. An endoscopic endonasal transsphenoidal approach was used for tumor and hematoma removal. The specimen showed growth hormone and prolactin positivity and was diagnosed as pit1-lineage plurihormonal adenoma. The tumor also showed positivity for somatostatin receptor 2. Thus, lanreotide treatment is a risk factor for pituitary apoplexy even in silent adenoma.","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":"100 1","pages":""},"PeriodicalIF":2.3,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138692302","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
Expression and distribution of hypoxia-inducible factor-1α and vascular endothelial growth factor in comparison between radiation necrosis and tumor tissue in metastatic brain tumor: A case report 低氧诱导因子-1α和血管内皮生长因子在转移性脑肿瘤放射坏死组织和肿瘤组织中的表达和分布对比:病例报告
IF 2.3 4区 医学
Neuropathology Pub Date : 2023-12-08 DOI: 10.1111/neup.12958
Fugen Takagi, Motomasa Furuse, Hiroko Kuwabara, Akihiro Kambara, Naoki Omura, Shogo Tanabe, Ryokichi Yagi, Ryo Hiramatsu, Masahiro Kameda, Naosuke Nonoguchi, Shinji Kawabata, Toshihiro Takami, Shin-Ichi Miyatake, Masahiko Wanibuchi
{"title":"Expression and distribution of hypoxia-inducible factor-1α and vascular endothelial growth factor in comparison between radiation necrosis and tumor tissue in metastatic brain tumor: A case report","authors":"Fugen Takagi, Motomasa Furuse, Hiroko Kuwabara, Akihiro Kambara, Naoki Omura, Shogo Tanabe, Ryokichi Yagi, Ryo Hiramatsu, Masahiro Kameda, Naosuke Nonoguchi, Shinji Kawabata, Toshihiro Takami, Shin-Ichi Miyatake, Masahiko Wanibuchi","doi":"10.1111/neup.12958","DOIUrl":"https://doi.org/10.1111/neup.12958","url":null,"abstract":"We report the case of a 70-year-old woman with metastatic brain tumors who underwent surgical removal of the tumor and radiation necrosis. The patient had a history of colon cancer and had undergone surgical removal of a left occipital tumor. Histopathological evaluation revealed a metastatic brain tumor. The tumor recurred six months after surgical removal, followed by whole-brain radiotherapy, and the patient underwent stereotactic radiosurgery. Six months later, the perifocal edema had increased, and the patient became symptomatic. The diagnosis was radiation necrosis and corticosteroids were initially effective. However, radiation necrosis became uncontrollable, and the patient underwent removal of necrotic tissue two years after stereotactic radiosurgery. Pathological findings predominantly showed necrotic tissue with some tumor cells. Since the vascular endothelial growth factor (VEGF) and hypoxia-inducible factor-1α (HIF-1α) were expressed around the necrotic tissue, the main cause of the edema was determined as radiation necrosis. Differences in the expression levels and distribution of HIF-1α and VEGF were observed between treatment-naïve and recurrent tumor tissue and radiation necrosis. This difference suggests the possibility of different mechanisms for edema formation due to the tumor itself and radiation necrosis. Although distinguishing radiation necrosis from recurrent tumors using MRI remains challenging, the pathophysiological mechanism of perifocal edema might be crucial for differentiating radiation necrosis from recurrent tumors.","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":"14 1","pages":""},"PeriodicalIF":2.3,"publicationDate":"2023-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138560358","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
Polyglucosan body disease in an aged chimpanzee (Pan troglodytes). 老年黑猩猩(类人猿)多葡聚糖体疾病的研究。
IF 1.3 4区 医学
Neuropathology Pub Date : 2023-12-01 Epub Date: 2023-04-21 DOI: 10.1111/neup.12906
Sanjeev Gumber, Fawn Connor-Stroud, Dustin Howard, Xiaodong Zhang, Brenda J Bradley, Chet C Sherwood, Lary C Walker
{"title":"Polyglucosan body disease in an aged chimpanzee (Pan troglodytes).","authors":"Sanjeev Gumber, Fawn Connor-Stroud, Dustin Howard, Xiaodong Zhang, Brenda J Bradley, Chet C Sherwood, Lary C Walker","doi":"10.1111/neup.12906","DOIUrl":"10.1111/neup.12906","url":null,"abstract":"<p><p>A 57-year-old female chimpanzee presented with a brief history of increasing lethargy and rapidly progressive lower-limb weakness that culminated in loss of use. Postmortem examination revealed no significant gross lesions in the nervous system or other organ systems. Histological analysis revealed round, basophilic to amphophilic polyglucosan bodies (PGBs) in the white and gray matter of the cervical, thoracic, lumbar, and coccygeal regions of spinal cord. Only rare PGBs were observed in forebrain samples. The lesions in the spinal cord were polymorphic, and they were positively stained with hematoxylin, periodic acid Schiff, Alcian blue, toluidine blue, Bielschowsky silver, and Grocott-Gomori methenamine-silver methods, and they were negative for von Kossa and Congo Red stains. Immunohistochemical evaluation revealed reactivity with antibodies to ubiquitin, but they were negative for glial fibrillary acidic protein, neuron-specific enolase, neurofilaments, tau protein, and Aβ protein. Electron microscopy revealed non-membrane-bound deposits composed of densely packed filaments within axons and in the extracellular space. Intra-axonal PGBs were associated with disruption of the axonal fine structure and disintegration of the surrounding myelin sheath. These findings are the first description of PGBs linked to neurological dysfunction in a chimpanzee. Clinicopathologically, the disorder resembled adult PGB disease in humans.</p>","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":"463-471"},"PeriodicalIF":1.3,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10642523/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9443235","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
Hyaline protoplasmic astrocytopathy in epilepsy. 癫痫的透明质星形细胞病。
IF 2.3 4区 医学
Neuropathology Pub Date : 2023-12-01 Epub Date: 2023-05-17 DOI: 10.1111/neup.12909
Shino Magaki, Mohammad Haeri, Linda J Szymanski, Zesheng Chen, Ramiro Diaz, Christopher K Williams, Julia W Chang, Yan Ao, Kathy L Newell, Negar Khanlou, William H Yong, Aria Fallah, Noriko Salamon, Tarek Daniel, Jennifer Cotter, Debra Hawes, Michael Sofroniew, Harry V Vinters
{"title":"Hyaline protoplasmic astrocytopathy in epilepsy.","authors":"Shino Magaki, Mohammad Haeri, Linda J Szymanski, Zesheng Chen, Ramiro Diaz, Christopher K Williams, Julia W Chang, Yan Ao, Kathy L Newell, Negar Khanlou, William H Yong, Aria Fallah, Noriko Salamon, Tarek Daniel, Jennifer Cotter, Debra Hawes, Michael Sofroniew, Harry V Vinters","doi":"10.1111/neup.12909","DOIUrl":"10.1111/neup.12909","url":null,"abstract":"<p><p>Hyaline protoplasmic astrocytopathy (HPA) describes a rare histologic finding of eosinophilic, hyaline cytoplasmic inclusions in astrocytes, predominantly in the cerebral cortex. It has mainly been observed in children and adults with a history of developmental delay and epilepsy, frequently with focal cortical dysplasia (FCD), but the nature and significance of these inclusions are unclear. In this study, we review the clinical and pathologic features of HPA and characterize the inclusions and brain tissue in which they are seen in surgical resection specimens from five patients with intractable epilepsy and HPA compared to five patients with intractable epilepsy without HPA using immunohistochemistry for filamin A, previously shown to label these inclusions, and a variety of astrocytic markers including aldehyde dehydrogenase 1 family member L1 (ALDH1L1), SRY-Box Transcription Factor 9 (SOX9), and glutamate transporter 1/excitatory amino acid transporter 2 (GLT-1/EAAT2) proteins. The inclusions were positive for ALDH1L1 with increased ALDH1L1 expression in areas of gliosis. SOX9 was also positive in the inclusions, although to a lesser intensity than the astrocyte nuclei. Filamin A labeled the inclusions but also labeled reactive astrocytes in a subset of patients. The immunoreactivity of the inclusions for various astrocytic markers and filamin A as well as the positivity of filamin A in reactive astrocytes raise the possibility that these astrocytic inclusions may be the result of an uncommon reactive or degenerative phenomenon.</p>","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":"441-456"},"PeriodicalIF":2.3,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9851332","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
Japanese Society of Neuropathology Award 2023 日本神经病理学学会奖 2023
IF 2.3 4区 医学
Neuropathology Pub Date : 2023-12-01 DOI: 10.1111/neup.12950
{"title":"Japanese Society of Neuropathology Award 2023","authors":"","doi":"10.1111/neup.12950","DOIUrl":"https://doi.org/10.1111/neup.12950","url":null,"abstract":"","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":"5 1","pages":""},"PeriodicalIF":2.3,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138623589","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 variably protease-sensitive prionopathy with Met/Met homogeneity at codon 129. 在密码子129处具有Met/Met同质性的可变蛋白酶敏感性朊病的尸检病例。
IF 2.3 4区 医学
Neuropathology Pub Date : 2023-12-01 Epub Date: 2023-05-30 DOI: 10.1111/neup.12911
Akiko Uchino, Yuko Saito, Saori Oonuma, Shigeo Murayama, Saburo Yagishita, Tetsuyuki Kitamoto, Kazuko Hasegawa
{"title":"An autopsy case of variably protease-sensitive prionopathy with Met/Met homogeneity at codon 129.","authors":"Akiko Uchino, Yuko Saito, Saori Oonuma, Shigeo Murayama, Saburo Yagishita, Tetsuyuki Kitamoto, Kazuko Hasegawa","doi":"10.1111/neup.12911","DOIUrl":"10.1111/neup.12911","url":null,"abstract":"<p><p>The typical clinical manifestations of sporadic Creutzfeldt-Jakob disease (sCJD) are rapid-progressive dementia and myoclonus. However, the diagnosis of atypical sCJD can be challenging due to its wide phenotypic variations. We report an autopsy case of variably protease-sensitive prionopathy (VPSPr) with Met/Met homogeneity at codon 129. An 81-year-old woman presented with memory loss without motor symptoms. Seventeen months after the onset, her spontaneous language production almost disappeared. Diffusion-weighted images (DWI) showed hyperintensity in the cerebral cortex while electroencephalogram (EEG) showed nonspecific change. 14-3-3 protein and real-time qualing-induced conversion (RT-QuIC) of cerebrospinal fluid were negative. She died at age 85, 3.5 years after the onset. Pathological investigation revealed spongiform change, severe neuronal loss, and gliosis in the cerebral cortex. Mild to moderate neuronal loss and gliosis were observed in the basal ganglia. PrP immunostaining revealed plaque-like, dotlike, and synaptic structures in the cerebral cortex and small plaque-like structures in the molecular layer of the cerebellum. Analysis of PRNP showed no pathogenic mutations, and Western blot examination revealed the lack of a diglycosylated band consistent with VPSPr. The present case, which is the first report on a VPSPr case in Japan, supports previously published evidence that VPSPr cases can present variable and nonspecific clinical presentations. Because a small number of VPSPr cases can show typical magnetic resonance imaging (MRI) change in sCJD. We should investigate the possibility of VPSPr in a differential diagnosis with atypical dementia that presented DWIs of high intensity in the cortex, even though 14-3-3 proteins and RT-QuIC are both negative. In addition, VPSPr cases can take a longer clinical course compared to that of sCJD, and long-term follow-up is important.</p>","PeriodicalId":19204,"journal":{"name":"Neuropathology","volume":" ","pages":"486-495"},"PeriodicalIF":2.3,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9551503","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
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