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Journal Neuropathology

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An autopsy case report of neuronal intermediate filament inclusion disease presenting with predominantly upper motor neuron features.

Aya Murakami, Masataka Nakamura, Yoshimi Nakamura, Satoshi Kaneko, Yusuke Yakushiji, Hirofumi Kusaka,

We describe an autopsy case of neuronal intermediate filament inclusion disease (NIFID), a subtype of frontotemporal lobar degeneration (FTLD) with the appearance of fused-in-sarcoma (FUS) inclusions (FTLD-FUS). A 57-year-old man developed dysarthria and dysphagia. One year and five months later, he was admitted to a hospital, and pseudobulbar palsy and right ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, :]

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Amyotrophic lateral sclerosis with speech apraxia, predominant upper motor neuron signs, and prominent iron accumulation in the frontal operculum and precentral gyrus.

Tomoki T Mitani, Goichi Beck, Kansuke Kido, Rika Yamashita, Yuki Yonenobu, Takuya Ogawa, Chizu Saeki, Tatsusada Okuno, Seiichi Nagano, Eiichi Morii, Masato Hasegawa, Yuko Saito, Shigeo Murayama, Hideki Mochizuki,

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease; transactivation response DNA-binding protein of 43 kDa (TDP-43) and iron accumulation are supposed to play a crucial role in the pathomechanism of the disease. Here, we report an unusual case of a patient with ALS who presented with speech apraxia as an ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, :]

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A case of intracranial myxoid mesenchymal tumor with EWSR1:CREM fusion in an adult female: Extensive immunohistochemical evaluation.

Atsushi Kambe, Satoshi Kuwamoto, Tsuyoshi Shimizu, Hidefumi Amisaki, Makoto Sakamoto, Hirotaka Inagaki, Masamichi Kurosaki,

Intracranial myxoid mesenchymal tumor (IMMT) is a recently described, extremely rare group of neoplasms characterized by fusions between the female-expressed transcript (FET) family genes and the cAMP response element-binding protein (CREB) family genes. Controversy persists regarding whether the tumor is a myxoid variant of angiomatoid fibrous histiocytoma or a completely ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, :]

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Primary central nervous system lymphomas with massive intratumoral hemorrhage: Clinical, radiological, pathological, and molecular features of six cases.

Seiji Yamada, Jun Muto, Sachiko Iba, Kazuya Shiogama, Yuta Tsuyuki, Akira Satou, Shigeo Ohba, Kazuhiro Murayama, Yasuo Sugita, Shigeo Nakamura, Hideaki Yokoo, Akihiro Tomita, Yuichi Hirose, Tetsuya Tsukamoto, Masato Abe,

Primary central nervous system lymphomas (PCNSLs) rarely exhibit intratumoral hemorrhage. The differential diagnosis of hemorrhagic neoplasms of the central nervous system (CNS) currently includes metastatic carcinomas, melanomas, choriocarcinomas, oligodendrogliomas, and glioblastomas. Here we present the clinical, radiological, pathological, and molecular genetic features of six cases of PCNSL associated with intratumoral ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, :]

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Intracranial myxoid angiomatoid fibrous histiocytoma with "classic" histology and EWSR1:CREM fusion providing insight for reconciliation with intracranial myxoid mesenchymal tumors.

Nicholas J H Tan, Patricia Diana Pratiseyo, Eka J Wahjoepramono, Chik Hong Kuick, Jian Yuan Goh, Kenneth T E Chang, Char Loo Tan,

Angiomatoid fibrous histiocytoma (AFH) is an uncommon soft tissue neoplasm that can exhibit diverse morphological features, including myxoid change. Rarely, the tumor occurs intracranially and poses considerable diagnostic challenges to neuropathologists. This is compounded by a recently coined entity, referred to as intracranial myxoid mesenchymal tumor (IMMT). These tumors show ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, :]

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Extracranial metastatic solitary fibrous tumor/hemangiopericytoma expressing G-CSF and its receptor.

Miku Maeda, Takahiro Fukuda, Misayo Miyake, Hiroyuki Takahashi, Masahiro Ikegami,

Although extracranial metastases are a relatively common phenomenon in patients with solitary fibrous tumors/hemangiopericytomas (SFTs/HPCs), factors involved in the mechanism underlying tumor growth and metastasis have not been identified. We report a case of extracranial metastatic SFT/HPC synthesizing granulocyte colony-stimulating factor (G-CSF) and G-CSF receptor (G-CSFR). A 39-year-old man underwent ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, :]

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An autopsy case of PARK2 due to a homozygous exon 2 deletion of parkin and associated with α-synucleinopathy.

Mayuko Sakuwa, Tadashi Adachi, Kentaro Yoshida, Yoshiki Adachi, Toshiya Nakano, Ritsuko Hanajima,

Lewy bodies (LBs) are usually detected in patients with idiopathic Parkinson's disease (PD), but there have been few reports of LBs in a familial form of early-onset PD associated with several mutations in parkin, a gene that encodes a ubiquitin E3 ligase involved in mitochondrial homeostasis, being also known as ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, :]

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Transactivation response DNA-binding protein of 43 kDa proteinopathy and lysosomal abnormalities in spastic paraplegia type 11.

Shinichiro Mori, Hiroyuki Honda, Hideomi Hamasaki, Naokazu Sasagasako, Satoshi O Suzuki, Hirokazu Furuya, Takayuki Taniwaki, Toru Iwaki,

Spastic paraplegia type 11 (SPG11) is the most common autosomal recessive hereditary spastic paraplegia with thinning of the corpus callosum. Spatacsin, a protein encoded by the SPG11 gene, is associated with autophagy. SPG11 patients show spastic paraplegia, intellectual disability, dementia, and parkinsonism. A previous neuropathological analysis of SPG11 cases reported ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, :]

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Neuropathology of the spinal nerve roots, spinal cord, and brain in the first autopsied case of Charcot-Marie-Tooth disease 4F with a D651N mutation in the periaxin gene.

Masayuki Shintaku, Kengo Maeda, Masanori Shiohara, Tomo Namura, Ryoji Kushima,

Charcot-Marie-Tooth disease (CMT) 4F is an autosomal recessive, hereditary peripheral neuropathy, mostly caused by mutations in the periaxin gene (PRX). This article reports neuropathological findings of the spinal nerve roots, spinal cord, and brain of a patient with CMT4F and a D651N missense mutation in PRX. The patient was a ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, :]

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Leptomeningeal and intraventricular myelomatosis manifesting an aggressive form of communicating hydrocephalus.

Yasuo Miki, Kosuke Kamata, Yui Akemoto, Fumiyasu Tsushima, Hirotake Sakuraba, Kazufumi Yamagata, Akira Kurose, Shinsaku Fukuda, Koichi Wakabayashi,

Leptomeningeal myelomatosis (LMM) is a fatal complication that occurs in < 1% of patients with multiple myeloma. Many patients with LMM present with neurologic symptoms referable to cranial neuropathies, while the manifestation of communicating hydrocephalus has been underrecognized. A Japanese man with Bence Jones protein-κ multiple myeloma developed fever and headache ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, 41(3):243-249]

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Pembrolizumab-caused polyradiculoneuropathy as an immune-related adverse event.

Takashi Kurashige, Mineyo Mito, Hideki Yamamoto, Tomohito Sugiura, Takashi Onoe, Kazuya Kuraoka, Kikuo Nakano, Tsuyoshi Torii,

Immune-related adverse events (irAEs) commonly involve the gastrointestinal tract, endocrine glands, skin, and liver, and rarely the nervous system. The pathomechanism of irAEs in the nervous system is unclear, and so characterizing these severe toxic effects is a priority, even if irAEs are uncommon in the nervous system. Our patient ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, :]

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Olfactory neuroblastoma associated with extensive "in situ" lesion and aberrant glandular and rhabdomyosarcomatous differentiation.

Masayuki Shintaku, Makoto Ohta, Kenichi Kataoka, Hidetoshi Okabe,

A case of olfactory neuroblastoma (ONB) associated with extensive intraepithelial neoplastic proliferation, evidenced by an "in situ" lesion, in the overlying olfactory epithelium and aberrant glandular and rhabdomyosarcomatous differentiation is reported. The tumor was a polypoid lesion that involved the upper nasal cavity and ethmoid sinus of a 63-year-old woman ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, :]

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Many roles for oligodendrocyte precursor cells in physiology and pathology.

Akiko Nishiyama, David R Serwanski, Friederike Pfeiffer,

Oligodendrocyte precursor cells (OPCs) are a fourth resident glial cell population in the mammalian central nervous system. They are evenly distributed throughout the gray and white matter and continue to proliferate and generate new oligodendrocytes (OLs) throughout life. They were understudied until a few decades ago when immunolabeling for NG2 ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, 41(3):161-173]

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Distinct TERT promoter C228T and C250T mutations in a patient with an oligodendroglioma: A case report.

Yukitomo Ishi, Hiromi Okada, Michinari Okamoto, Hiroaki Motegi, Shinya Tanaka, Tomoko Mitsuhashi, Shigeru Yamaguchi,

The majority of oligodendroglial tumors harbor mutations in the telomerase reverse transcriptase (TERT) gene (TERT) promoter and the isocitrate dehydrogenase 1/2 (IDH1/2) gene (IDH1/2), as well as 1p/19q codeletion. Generally, TERT promoter mutations, C250T and C228T, are mutually exclusive. We present a case of oligodendroglioma harboring both C250T and C228T ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, 41(3):236-242]

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An autopsy case of corticobasal degeneration with inferior olivary hypertrophy.

Chiho Ishida, Yuko Kato-Motozaki, Daisuke Noto, Kiyonobu Komai, Masato Hasegawa, Takeshi Ikeuchi, Masahito Yamada,

We report autopsy results of a female patient who was confirmed pathologically as having corticobasal degeneration (CBD). This patient presented with progressive gait disturbance at the age of 66 years, and subsequently showed parkinsonism with a right-sided predominance and dementia. She was clinically diagnosed as having possible corticobasal syndrome without palatal ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, 41(3):226-235]

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Coexistence of dentatorubral-pallidoluysian atrophy and Parkinson's disease: An autopsy case report.

Seong-Ik Kim, Hyunhee Kim, Jin Woo Park, Ji-Hyun Choi, Han Joon Kim, Jae Kyung Won, Beomseok Jeon, Sung-Hye Park,

We report an autopsy case of a 56-year-old male patient with the coexistence of dentatorubral-pallidoluysian atrophy (DRPLA) and Parkinson's disease (PD). He presented with gait instability and dysarthria for 10 years. The removed brain showed general atrophy (988 g) with depigmentation of the substantia nigra. The neocortex and deep gray matter, including ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, 41(3):196-205]

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Intracellular amyloid hypothesis for ultra-early phase pathology of Alzheimer's disease.

Hitoshi Okazawa,

Using a new marker of necrosis, pSer46-MARCKS, which was identified by comprehensive phosphoproteome analysis as a phosphoprotein changed before appearance of extracellular amyloid aggregation, we discovered that neuronal necrosis occurs much earlier in Alzheimer's disease pathology than previously expected. The necrosis is induced by intracellular amyloid accumulation that deprives a ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, 41(2):93-98]

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The variant m.3482A>G in MT-ND1 is benign and not responsible for MELAS/Leigh overlap syndrome.

Josef Finsterer,

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, 41(3):250]

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Dissecting lesions in a culprit artery of a hemorrhagic focus in the basal ganglia: Histopathological analysis by serial sectioning.

Aya Takada, Kazuyuki Saito, Kentaro Sakai,

In a hypertensive hemorrhagic focus of the basal ganglia, the culprit arteries have been reported to be associated with dissecting lesions, whose topographical relationship to the rupture sites remains to be clarified. Herein we describe multiple dissecting lesions in the culprit artery of hypertensive hemorrhage of the basal ganglia. A ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, :]

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Diffuse midline glioma with H3 K27M mutation of the spinal cord: A series of 33 cases.

Jingjing Yao, Leiming Wang, Haijing Ge, Hongfang Yin, Yueshan Piao,

We investigated the risk factors for diffuse midline gliomas of the spinal cord (DMGSCs). Seventy patients with spinal cord gliomas in two hospitals were analyzed retrospectively. Sixty-nine patients that underwent surgery achieved partial or gross total removal. The patients were subdivided into some groups, based on age, WHO grade, tumor ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, 41(3):183-190]

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Genetic Creutzfeldt-Jakob disease-M232R with the cooccurrence of multiple prion strains, M1 + M2C + M2T: Report of an autopsy case.

Masayuki Shintaku, Takeshi Nakamura, Daita Kaneda, Akiyo Shinde, Hirofumi Kusaka, Atsuko Takeuchi, Tetsuyuki Kitamoto,

Genetic Creutzfeldt-Jakob disease (gCJD) with a methionine to arginine substitution at codon 232 of the prion protein gene (gCJD-M232R) is rare and has only been reported in Japan. We report an autopsy case of gCJD-M232R showing alleles of codon 129 that were homozygous for methionine and the presence of multiple ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, 41(3):206-213]

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Human brain pathology in myotonic dystrophy type 1: A systematic review.

Ralf Weijs, Kees Okkersen, Baziel van Engelen, Benno Küsters, Martin Lammens, Eleonora Aronica, Joost Raaphorst, Anne-Marie van Cappellen van Walsum,

Brain involvement in myotonic dystrophy type 1 (DM1) is characterized by heterogeneous cognitive, behavioral, and affective symptoms and imaging alterations indicative of widespread grey and white matter involvement. The aim of the present study was to systematically review the literature on brain pathology in DM1. We conducted a structured search ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, 41(1):3-20]

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A case of idiopathic extracranial carotid artery pseudoaneurysm with a rare clinical course and pathological features.

Shunsuke Nomura, Taku Yoneyama, Akitsugu Kawashima, Koji Yamaguchi, Tatsuya Ishikawa, Yoshikazu Okada, Noriyuki Shibata, Takakazu Kawamata,

Extracranial carotid artery aneurysms (ECAAs) are rare, with the etiology mainly classified as degeneration or dissection. Pseudoaneurysms in the region are even rarer and are seen following trauma, iatrogenic injury, or infection. We report a case of extracranial carotid artery pseudoaneurysm (pseudo-ECAA) with a rare clinical course and pathological features. ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, 41(3):191-195]

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Abnormal prion protein deposits with high seeding activities in the skeletal muscle, femoral nerve, and scalp of an autopsied case of sporadic Creutzfeldt-Jakob disease.

Hiroyuki Honda, Shinichiro Mori, Akihiro Watanabe, Naokazu Sasagasako, Shoko Sadashima, Trang Đồng, Katsuya Satoh, Noriyuki Nishida, Toru Iwaki,

We report the general autopsy findings of abnormal prion protein (PrP) deposits with their seeding activities, as assessed by the real-time quaking-induced conversion (RT-QuIC) method, in a 72-year-old female patient with sporadic Creutzfeldt-Jakob disease (sCJD). At 68 years of age, she presented with gait disturbance and visual disorders. Electroencephalography showed periodic ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, 41(2):152-158]

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Extra-axial sacral soft tissue giant cell ependymoma affecting a child: Case report and review of the literature.

Silvia Planas, Ofelia Cruz, Miguel Bejarano, Asteria Albert, Carlota Rovira, Josep A Bombi,

An otherwise healthy eight-year-old girl presented with a mass in the soft tissue of the sacral region. The lesion was diagnosed as a vascular malformation on imaging studies, for which percutaneous sclerotherapy was attempted. The mass continued to grow and a complete resection was performed after four years. The pathological diagnosis ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, 41(2):139-145]

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