Atypical teratoid/rhabdoid tumor with retained INI1 (SMARCB1) expression and loss of BRG1 (SMARCA4)
We report a case of AT/RT in a 3 month old boy with retained expression of INI1 by immunohistochemistry. Additional testing demonstrated loss of expression of the SMARCA4 gene product Brahma‐related gene 1 (BRG1) protein by immunohistochemistry, confirmed by next generation sequencing showing a nonsense mutation in SMARCA4. This case illustrates that positivity for INI1 does not rule out a diagnosis of AT/RT, and additional testing, including BRG1/SMARCA4 analysis, is warranted in cases where clinical suspicion is high. (Source: Neuropathology)
Source: Neuropathology - December 1, 2017 Category: Neurology Authors: Christine Bookhout, Thomas W. Bouldin, David W. Ellison Tags: Case Report Source Type: research
Postmortem immunohistochemical alterations following cerebral lesions: A possible pathohistological importance of the β‐dystroglycan immunoreactivity
The frequency of cerebrovascular injuries raises the importance of their immunohistological investigation in postmortem materials. Most injuries involve the impairment of the blood–brain barrier. The barrier is maintained by the glio‐vascular connections which break up following injuries. Some immunohistochemical alterations may refer to the impairment of the gliovascular connections. Laminin and the components of the dystroglycan complex show characteristic immunohistochemical alterations following various experimental injuries (stab wound, cryogenic lesion, arterial occlusions): immunoreactivity of β‐dystroglycan,...
Source: Neuropathology - December 1, 2017 Category: Neurology Authors: D ávid Szöllősi, László Tóth, Mihály Kálmán Tags: Original Article Source Type: research
Enhanced neurogenesis and possible synaptic reorganization in the piriform cortex of adult rat following kainic acid ‐induced status epilepticus
Epileptic seizure has been reported to enhance adult neurogenesis and induce aberrant synaptic reorganization in the human dentate gyrus in the hippocampal formation. However, adult neurogenesis in the extrahippocampal regions has not been well studied. To investigate seizure‐enhanced neurogenesis in the extrahippocampal regions, we performed histological and immunohistochemical as well as western blot analyses on the cerebrum of Sprague–Dawley rats (n = 51, male, 7 weeks old, body weight 250–300 g) treated with intraperitoneal injection of kainic acid (KA, 10 mg/kg) to induce status epilepticus (SE) (n =...
Source: Neuropathology - December 1, 2017 Category: Neurology Authors: Masashi Sakurai, Hiroko Suzuki, Nagi Tomita, Yuji Sunden, Akinori Shimada, Hajime Miyata, Takehito Morita Tags: Original Article Source Type: research
Intraventricular melanocytoma diagnosis confirmed by gene mutation profile
Primary leptomeningeal melanocytic tumors (PLMTs) are rare. They usually arise along the spinal cord and at the skull base. Here we report on a patient with a very rare intraventricular melanocytoma. Histologically, a melanocytic tumor was clearly diagnosed. However, to make the uncommon diagnosis of an intraventricular melanocytoma, metastatic melanoma needed to be excluded. Next generation sequencing covering gene mutations that may occur in PLMTs and cutaneous melanoma was performed. The unique gene mutation profile detected, consisting of an activating CYSLTR2 L129Q mutation and EIF1AX G9R mutation and a lack of mutati...
Source: Neuropathology - December 1, 2017 Category: Neurology Authors: Ulrich J. Knappe, Iris Tischoff, Andrea Tannapfel, Wolf ‐Dieter Reinbold, Inga Möller, Antje Sucker, Dirk Schadendorf, Klaus G. Griewank, Johannes A.P. van de Nes Tags: Case Report Source Type: research
Deregulation of autophagy in postmortem brains of Machado ‐Joseph disease patients
Autophagy, the major pathway for protein turnover, is critical to maintain cellular homeostasis and has been implicated in neurodegenerative diseases. The aim of this research was to analyze the expression of autophagy markers in postmortem brains from Machado‐Joseph disease (MJD) patients. The expression of autophagy markers in the cerebellum and the oculomotor nucleus from MJD patients and age‐matched controls with no signs of neuropathology was inspected postmortem by immunohistochemistry (IHC) and Western blot. Furthermore, autophagy was examined by means of transmission electron microscopy (TEM). Western blot and ...
Source: Neuropathology - December 1, 2017 Category: Neurology Authors: Annie Sittler, Marie ‐Paule Muriel, Martina Marinello, Alexis Brice, Wilfred den Dunnen, Sandro Alves Tags: Original Article Source Type: research
Giant intracranial arteriovenous malformation as the focus of epileptic seizures
Neuropathology, EarlyView. (Source: Neuropathology)
Source: Neuropathology - November 14, 2017 Category: Neurology Source Type: research
Seronegative granulomatosis with polyangiitis presenting with multiple cranial nerve palsies
Neuropathology, EarlyView. (Source: Neuropathology)
Source: Neuropathology - November 14, 2017 Category: Neurology Source Type: research
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Neuropathology, Ahead of Print. (Source: Neuropathology)
Source: Neuropathology - November 14, 2017 Category: Neurology Source Type: research
Giant intracranial arteriovenous malformation as the focus of epileptic seizures
A man in his late thirties was found in a supine position in the hallway of his house. He had been diagnosed with epilepsy at approximately 20 years old. Since stopping treatment, epileptic events occurred more frequently and his condition deteriorated in the past 2 years. Autopsy revealed that head injuries were found on the left side of his head. A fracture from the left parietal bone to the anterior cranial fossa was also detected. A subdural hemorrhage (hematoma) spanned a wide range. A subarachnoid hemorrhage was also identified in the left parietal region. His brain weighed 1603 g, was edematous, and showed rig...
Source: Neuropathology - November 14, 2017 Category: Neurology Authors: Mio Takayama, Kenji Hara, Aya Matsusue, Brian Waters, Natsuki Ikematsu, Masayuki Kashiwagi, Shin ‐ichi Kubo Tags: Case Report Source Type: research
Frontotemporal dementia with trans ‐activation response DNA‐binding protein 43 presenting with catatonic syndrome
Neuropathology, EarlyView. (Source: Neuropathology)
Source: Neuropathology - November 7, 2017 Category: Neurology Source Type: research
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Neuropathology, Ahead of Print. (Source: Neuropathology)
Source: Neuropathology - November 7, 2017 Category: Neurology Source Type: research
Pituitary atypical teratoid rhabdoid tumor in a patient with prolactinoma: A unique description
Neuropathology, EarlyView. (Source: Neuropathology)
Source: Neuropathology - November 6, 2017 Category: Neurology Source Type: research
Frontotemporal lobar degeneration due to P301L tau mutation showing apathy and severe frontal atrophy but lacking other behavioral changes: A case report and literature review
Neuropathology, EarlyView. (Source: Neuropathology)
Source: Neuropathology - November 6, 2017 Category: Neurology Source Type: research
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Neuropathology, Ahead of Print. (Source: Neuropathology)
Source: Neuropathology - November 6, 2017 Category: Neurology Source Type: research
