Frequency of MYD88 and CD79B mutations, and MGMT methylation in primary central nervous system diffuse large B ‐cell lymphoma
Primary CNS diffuse large B‐cell lymphoma (PCNS‐DLBCL) and systemic DLBCL harbor mutations in MYD88 and CD79B. DNA methyltransferase (MGMT) is methylated in some DLBCL. Our goal was to investigate the frequencies of these events, which have not been previously reported within the same series of patients with PCNS‐DLBCL. Fifty‐four cases of PCNS‐DLBCL from two institutions were analyzed by Sanger sequencing for MYD88 and CD79B, and pyrosequencing for MGMT. MYD88 mutations were identified in 68.8% (35 of 51 cases), with L265P being the most frequent mutation. Mutations other than L265P were identified in 21.6% of c...
Source: Neuropathology - August 1, 2017 Category: Neurology Authors: Mei Zheng, Anamarija M. Perry, Philip Bierman, Fausto Loberiza, Michel R. Nasr, David Szwajcer, Marc R. Del Bigio, Lynette M. Smith, Weiwei Zhang, Timothy C. Greiner Tags: Original Article Source Type: research
Marked accumulation of oligodendroglia ‐like cells in temporal lobe epilepsy with amygdala enlargement and hippocampal sclerosis
Although an increasing number of cases of temporal lobe epilepsy (TLE) with ipsilateral amygdala enlargement (AE) have been reported, there are few pathological reports, and no clear consensus has been established. Oligodendroglia or oligodendroglia‐like cells (OLCs) have recently attracted attention in epilepsy studies. Here, we report the clinical and pathological findings of a 40‐year‐old male TLE patient with AE and hippocampal sclerosis, in whom histopathological study demonstrated remarkable clustering of OLCs around the uncus. The patient began to have refractory seizures at the age of 14, and preoperative MRI...
Source: Neuropathology - August 1, 2017 Category: Neurology Authors: Daichi Sone, Masako Ikemura, Yuko Saito, Go Taniguchi, Naoto Kunii Tags: Case Report Source Type: research
Cerebral amyloid angiopathy initially occurs in the meningeal vessels
We examined the anatomical ratios of blood‐vessel sections in the SAS relative to the CC in three selected CAA cases, and those of Aβ‐positive blood‐vessel sections in CAA cases. CAA was found in 53 of the 105 cases (50.5%), and the youngest patient affected was a 51‐year‐old man. The incidence of CAA increased with age. The anatomical ratio of blood vessel sections in the SAS relative to the CC was 1/3.70–1/4.37 (mean: 1/3.94). The ordinary CAA group, in which CAA was seen in both the SAS and CC, included 41 cases (77.4%). In 37 of these cases, the SAS/CC ratio of Aβ‐positive blood vessels was 1/0.05–1/0...
Source: Neuropathology - August 1, 2017 Category: Neurology Authors: Shigeki Takeda, Kazunori Yamazaki, Teruo Miyakawa, Kiyoshi Onda Tags: Original Article Source Type: research
Clinicopathologic features and pathogenesis of melanocytic colonization in atypical meningioma
Only two prior cases of benign dendritic melanocytes colonizing a meningioma have been reported. We add a third case, describe clinicopathologic features shared by the three, and elucidate the risk factors for this very rare phenomenon. A 29 year‐old Hispanic woman presented with headache and hydrocephalus. MRI showed a lobulated enhancing pineal region mass measuring 41 mm in greatest dimension. Subtotal resection of the mass demonstrated an atypical meningioma, WHO grade II, and the patient subsequently underwent radiotherapy. She presented 4 years later with diplopia, and MRI showed an enhancing extra‐axial ma...
Source: Neuropathology - August 1, 2017 Category: Neurology Authors: Mitra Dehghan Harati, Andrew Yu, Shino D. Magaki, Mari Perez ‐Rosendahl, Kyuseok Im, Young K. Park, Marvin Bergsneider, William H. Yong Tags: Case Report Source Type: research
Kernicterus in a boy with ornithine transcarbamylase deficiency: A case report
This study describes a patient with early onset lethal OTCD due to a known pathogenic variant (c.298+1G>A), as well as the novel autopsy finding of kernicterus with relatively low blood concentration of unconjugated bilirubin (UCB) (11.55 mg/dL). The patient was a full‐term male with a family history of two previous male siblings who died as newborns after acute neurologic deterioration. The patient's symptoms began at 24 h of life with lethargy that rapidly progressed to coma upon admission to the neonatal intensive care unit. Although hyperammonemia and hyperbilirubinemia were documented, hemofiltration could no...
Source: Neuropathology - August 1, 2017 Category: Neurology Authors: Eduardo L ópez‐Corella, Isabel Ibarra‐González, Cynthia Fernández‐Lainez, Miguel Á. Rodríguez‐Weber, Sara Guillén‐Lopez, Leticia Belmont‐Martínez, David Agüero‐Linares, Marcela Vela‐Amieva Tags: Case Report Source Type: research
Poorly differentiated chordoma with loss of SMARCB1/INI1 expression in pediatric patients: A report of two cases and review of the literature
Identification of loss of SMARCB1/INI1 expression in poorly differentiated (PD) chordoma in pediatric patients suggests that PD chordoma is an entity molecularly distinct from conventional chordoma or atypical teratoid/rhabdoid tumor, which is also characterized by loss of SMARCB1/INI1 expression by inactivating mutation of the SMARCB1/INI gene. So far, around 20 cases of pediatric PD chordoma with loss of SMARCB1/INI1 expression have been reported. Here, we report two cases of pediatric PD chordoma with loss of SMARCB1/INI1 expression, which is very rare among the pediatric chordoma types. Both patients presented clival m...
Source: Neuropathology - August 1, 2017 Category: Neurology Authors: Yoon Jin Cha, Chang ‐Ki Hong, Dong‐Seok Kim, Seung‐Koo Lee, Hyeon Jin Park, Se Hoon Kim Tags: Case Report Source Type: research
Human Zika and West Nile virus neurological infections
(Source: Neuropathology)
Source: Neuropathology - July 14, 2017 Category: Neurology Authors: Beuy Joob, Viroj Wiwanitkit Tags: Letter to the Editor Source Type: research
Myelinating cocultures of rodent stem cell line ‐derived neurons and immortalized Schwann cells
Myelination is one of the most remarkable biological events in the neuron–glia interactions for the development of the mammalian nervous system. To elucidate molecular mechanisms of cell‐to‐cell interactions in myelin synthesis in vitro, establishment of the myelinating system in cocultures of continuous neuronal and glial cell lines are desirable. In the present study, we performed co‐culture experiments using rat neural stem cell‐derived neurons or mouse embryonic stem (ES) cell‐derived motoneurons with immortalized rat IFRS1 Schwann cells to establish myelinating cultures between these cell lines. Differenti...
Source: Neuropathology - July 14, 2017 Category: Neurology Authors: Tomohiro Ishii, Emiko Kawakami, Kentaro Endo, Hidemi Misawa, Kazuhiko Watabe Tags: Symposium: Glial pathology Source Type: research
Diffuse glioma – Rare homozygous IDH point mutation, is it an oncogenetic mechanism?
Isocitrate dehydrogenase (IDH1/IDH2) mutations in gliomas of WHO grade II/III and secondary glioblastoma are almost always heterozygous missense mutations. Here, we report an extremely rare case of homozygous IDH1R132H mutation in a recurrent WHO grade III anaplastic astrocytoma. The authors here also review the relevant literature for the possible metabolic impact of homozygous IDH1/2 mutations in the gliomagenesis. (Source: Neuropathology)
Source: Neuropathology - June 1, 2017 Category: Neurology Authors: Angad Singh, Mamta Gurav, Sandeep Dhanavade, Omshree Shetty, Sridhar Epari Tags: Case Report Source Type: research
Pediatric intracerebral histiocytic sarcoma with rhabdoid features: Case report and literature review
A 16‐year‐old boy presented with marked weight loss, weakness of the left extremities and dizziness of 2 months duration and vomiting for 2 days. Brain MRI showed an approximately 6.5 × 5.3 cm‐sized huge heterogeneous enhancing mass located in the corpus callosum, extending into the lateral ventricle. Open biopsy showed that the lesion consisted of lymphoplasmacytes and plump histiocytes with rhabdoid morphology, which were stained with S‐100 protein, CD68 (KP1) and negative for CD1a. Histiocytic tumor was initially diagnosed. Chemotherapy using methotrexate, 6‐mercaptopurine, vinblastine, interferon‐alpha ...
Source: Neuropathology - June 1, 2017 Category: Neurology Authors: Young Hye Kim, Gie ‐Taek Yie, Na Rae Kim, In‐Sang Jeon, Hyun Yee Cho, Jae Yeon Seok, Eung Yeop Kim, Kyu Chan Lee Tags: Case Report Source Type: research
Decreased levels of PDI and P5 in oligodendrocytes in Alzheimer's disease
Abstract
Protein disulfide isomerase (PDI) is a chaperone protein located in the endoplasmic reticulum (ER). Nitric oxide‐induced S‐nitrosylation of PDI inhibits its enzymatic activity, leading to protein accumulation and activation of the unfolded protein response. Protein disulfide isomerase P5 (P5) is a member of the PDI family that mostly localizes to the ER lumen. Both S‐nitrosylated PDI and S‐nitrosylated P5 are found in Alzheimer's disease (AD) brain. Previously, we showed that expression of the ER stress marker, growth arrest, and DNA damage protein (GADD34) was significantly increased in neurons and oligod...
Source: Neuropathology - June 1, 2017 Category: Neurology Authors: Yasuyuki Honjo, Takashi Ayaki, Takami Tomiyama, Tomohisa Horibe, Hidefumi Ito, Hiroshi Mori, Ryosuke Takahashi, Koji Kawakami Tags: Original Article Source Type: research
An autopsied case of corticobasal degeneration presenting with frontotemporal dementia followed by myoclonus
A Japanese woman developed frontotemporal dementia (FTD)‐like symptoms of abnormal behavior, such as stereotyped behavior and disinhibition. The patient developed these symptoms at the age of 59 years, although aphasia symptoms were not apparent at early disease stages. Progressive parkinsonism was dominant on the left side, and conspicuous myoclonus was recognized in the late disease stage. MRI indicated severe, right side‐dominant frontotemporal lobe atrophy with white matter degeneration. Brainstem and cerebellar atrophy were also observed. The patient underwent gastrostomy 7 years after the onset of her symptoms ...
Source: Neuropathology - June 1, 2017 Category: Neurology Authors: Yasushi Iwasaki, Keiko Mori, Masumi Ito, Maya Mimuro, Mari Yoshida Tags: Case Report Source Type: research
An autopsy case of Creutzfeldt ‐Jakob disease with a prion protein gene codon 180 mutation presenting with pathological laughing and an exaggerated startle reaction
A 78‐year‐old Japanese woman presented with slow progressive disorientation and memory disturbances. Pathological laughing was observed at an early disease stage and continued for several months. Around the same time, the patient began to exhibit an exaggerated startle reaction and mild myoclonus. The pathological laughing and startle reaction disappeared before the patient reached an akinetic mutism state approximately 16 months after symptom onset. MRI showed extensive hyperintensity of the cerebral cortex and striatum on diffusion‐weighted images, and swelling in the cerebral cortex on T2‐weighted and fluid att...
Source: Neuropathology - June 1, 2017 Category: Neurology Authors: Yasushi Iwasaki, Keiko Mori, Masumi Ito, Akio Akagi, Maya Mimuro, Tetsuyuki Kitamoto, Mari Yoshida Tags: Case Report Source Type: research
Pick's disease with neuronal four ‐repeat tau accumulation in the basal ganglia, brain stem nuclei and cerebellum
Abstract
It is very rare that cases of Pick's disease, a representative three‐repeat (3R) tauopathy, also have significant four‐repeat (4R) tau accumulation. Here, we report a Pick's disease case that clinically showed behavioral variant frontotemporal dementia without motor disturbance during the course, and pathologically had 3R tau‐positive Pick bodies as well as numerous 4R tau‐positive neuronal cytoplasmic inclusions (NCIs). Abundant 3R tau‐positive 4R tau‐negative spherical or horseshoe‐shaped Pick bodies were found in the frontotemporal cortex, limbic region, striatum and pontine nucleus. On the other ...
Source: Neuropathology - June 1, 2017 Category: Neurology Authors: Chikako Ikeda, Osamu Yokota, Tomoko Miki, Shintaro Takenoshita, Hideki Ishizu, Yoko Mori, Kiyohiro Yamazaki, Yuki Ozaki, Shu ‐Ichi Ueno, Takeshi Ishihara, Masato Hasegawa, Seishi Terada, Norihito Yamada Tags: Case Report Source Type: research
Olfactory dysfunction in the APP/PS1 transgenic mouse model of Alzheimer's disease: Morphological evaluations from the nose to the brain
In this study, we evaluated amyloid deposition in the olfactory circuit of APP/PS1 transgenic mouse model of AD, which showed olfactory dysfunction in olfactory behavior tests. We found amyloid depositions were widely distributed in the whole olfactory circuit. Moreover, we think these amyloid depositions contribute to neuronal atrophy, dendritic abnormalities, synapse loss and axonal degeneration. Therefore, there was a correlation between olfactory deficits and amyloid deposition. Our findings provide initial insights into the pathological basis of AD‐related olfactory dysfunction. (Source: Neuropathology)
Source: Neuropathology - June 1, 2017 Category: Neurology Authors: Zhi ‐Gang Yao, Fang Hua, Hao‐Zhuang Zhang, Yan‐Yan Li, Ye‐Jun Qin Tags: Original Article Source Type: research
