Articles

Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation

Filamin C (FLNc) is mainly expressed in striated muscle cells where it localizes to Z-discs, myotendinous junctions and intercalated discs. Recent studies have revealed numerous mutations in the FLNC gene causing...

Authors: Julia Schuld, Zacharias Orfanos, Frédéric Chevessier, Britta Eggers, Lorena Heil, Julian Uszkoreit, Andreas Unger, Gregor Kirfel, Peter F. M. van der Ven, Katrin Marcus, Wolfgang A. Linke, Christoph S. Clemen, Rolf Schröder and Dieter O. Fürst

Untangling the origin and function of granulovacuolar degeneration bodies in neurodegenerative proteinopathies

In the brains of tauopathy patients, tau pathology coincides with the presence of granulovacuolar degeneration bodies (GVBs) both at the regional and cellular level. Recently, it was shown that intracellular t...

Authors: Vera I. Wiersma, Jeroen J. M. Hoozemans and Wiep Scheper

The blood-brain barrier is disrupted in Machado-Joseph disease/spinocerebellar ataxia type 3: evidence from transgenic mice and human post-mortem samples

Blood-brain barrier (BBB) disruption is a common feature in neurodegenerative diseases. However, BBB integrity has not been assessed in spinocerebellar ataxias (SCAs) such as Machado-Joseph disease/SCA type 3 ...

Authors: Diana Duarte Lobo, Rui Jorge Nobre, Catarina Oliveira Miranda, Dina Pereira, João Castelhano, José Sereno, Arnulf Koeppen, Miguel Castelo-Branco and Luís Pereira de Almeida

Comprehensive analysis of diverse low-grade neuroepithelial tumors with FGFR1 alterations reveals a distinct molecular signature of rosette-forming glioneuronal tumor

The FGFR1 gene encoding fibroblast growth factor receptor 1 has emerged as a frequently altered oncogene in the pathogenesis of multiple low-grade neuroepithelial tumor (LGNET) subtypes including pilocytic astroc...

Authors: Calixto-Hope G. Lucas, Rohit Gupta, Pamela Doo, Julieann C. Lee, Cathryn R. Cadwell, Biswarathan Ramani, Jeffrey W. Hofmann, Emily A. Sloan, Bette K. Kleinschmidt-DeMasters, Han S. Lee, Matthew D. Wood, Marjorie Grafe, Donald Born, Hannes Vogel, Shahriar Salamat, Diane Puccetti…

Trans-synaptic and retrograde axonal spread of Lewy pathology following pre-formed fibril injection in an in vivo A53T alpha-synuclein mouse model of synucleinopathy

It is necessary to develop an understanding of the specific mechanisms involved in alpha-synuclein aggregation and propagation to develop disease modifying therapies for age-related synucleinopathies, includin...

Authors: Allison J. Schaser, Teresa L. Stackhouse, Leah J. Weston, Patrick C. Kerstein, Valerie R. Osterberg, Claudia S. López, Dennis W. Dickson, Kelvin C. Luk, Charles K. Meshul, Randall L. Woltjer and Vivek K. Unni

Regional correlation of biochemical measures of amyloid and tau phosphorylation in the brain

Alzheimer’s disease (AD) neuropathologic change is characterized by amyloid plaques and neurofibrillary tangles (NFTs) that consist of aggregated amyloid beta (Abeta) and hyperphosphorylated tau proteins (p-ta...

Authors: Kanta Horie, Nicolas R. Barthélemy, Nipun Mallipeddi, Yan Li, Erin E. Franklin, Richard J. Perrin, Randall J. Bateman and Chihiro Sato

Unclassified four-repeat tauopathy associated with familial parkinsonism and progressive respiratory failure

We describe an autopsied patient with familial parkinsonism and unclassified four repeat-tau (4R-tau) aggregation. She presented with bradykinesia, truncal dystonia, and mild amnesia at the age of 61 and then ...

Authors: Masayoshi Nakano, Yuichi Riku, Kenya Nishioka, Masato Hasegawa, Yukihiko Washimi, Yutaka Arahata, Akinori Takeda, Kentaro Horibe, Akiko Yamaoka, Keisuke Suzuki, Masashi Tsujimoto, Yuanzhe Li, Hiroyo Yoshino, Nobutaka Hattori, Akio Akagi, Hiroaki Miyahara…

Neuronophagia and microglial nodules in a SARS-CoV-2 patient with cerebellar hemorrhage

We document the neuropathologic findings of a 73-year old man who died from acute cerebellar hemorrhage in the context of relatively mild SARS-CoV2 infection. The patient developed sudden onset of headache, na...

Authors: Osama Al-Dalahmah, Kiran T. Thakur, Anna S. Nordvig, Morgan L. Prust, William Roth, Angela Lignelli, Anne-Catrin Uhlemann, Emily Happy Miller, Shajo Kunnath-Velayudhan, Armando Del Portillo, Yang Liu, Gunnar Hargus, Andrew F. Teich, Richard A. Hickman, Kurenai Tanji, James E. Goldman…

Acute brain injuries trigger microglia as an additional source of the proteoglycan NG2

NG2 is a type I transmembrane glycoprotein known as chondroitin sulfate proteoglycan 4 (CSPG4). In the healthy central nervous system, NG2 is exclusively expressed by oligodendrocyte progenitor cells and by va...

Authors: Wenhui Huang, Xianshu Bai, Erika Meyer and Anja Scheller

New somatic TERT promoter variants enhance the Telomerase activity in Glioblastoma

The catalytic activity of human Telomerase Reverse Transcriptase (TERT) compensates for the loss of telomere length, eroded during each cell cycle, to ensure a correct division of stem and germinal cells. In h...

Authors: Tiziana Pierini, Carlotta Nardelli, Anair Graciela Lema Fernandez, Valentina Pierini, Fabrizia Pellanera, Valeria Nofrini, Paolo Gorello, Martina Moretti, Silvia Arniani, Giovanni Roti, Paolo Giovenali, Marco Lupattelli, Giulio Metro, Carmen Molica, Corrado Castrioto, Rodolfo Corinaldesi…

Innate immune response in neuronopathic forms of Gaucher disease confers resistance against viral-induced encephalitis

Both monogenic diseases and viral infections can manifest in a broad spectrum of clinical phenotypes that range from asymptomatic to lethal, suggesting that other factors modulate disease severity. Here, we ex...

Authors: Sharon Melamed, Roy Avraham, Deborah E. Rothbard, Noam Erez, Tomer Israely, Ziv Klausner, Anthony H. Futerman, Nir Paran and Einat B. Vitner

Increased levels of Stress-inducible phosphoprotein-1 accelerates amyloid-β deposition in a mouse model of Alzheimer’s disease

Molecular chaperones and co-chaperones, which are part of the protein quality control machinery, have been shown to regulate distinct aspects of Alzheimer’s Disease (AD) pathology in multiple ways. Notably, th...

Authors: Rachel E. Lackie, Jose Marques-Lopes, Valeriy G. Ostapchenko, Sarah Good, Wing-Yiu Choy, Patricija van Oosten-Hawle, Stephen H. Pasternak, Vania F. Prado and Marco A. M. Prado

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy

Ovine congenital progressive muscular dystrophy (OCPMD) was first described in Merino sheep flocks in Queensland and Western Australia in the 1960s and 1970s. The most prominent feature of the disease is a dis...

Authors: Joshua S. Clayton, Elyshia L. McNamara, Hayley Goullee, Stefan Conijn, Keren Muthsam, Gabrielle C. Musk, David Coote, James Kijas, Alison C. Testa, Rhonda L. Taylor, Amanda J. O’Hara, David Groth, Coen Ottenheijm, Gianina Ravenscroft, Nigel G. Laing and Kristen J. Nowak

Assessment of radial glia in the frontal lobe of fetuses with Down syndrome

Down syndrome (DS) occurs with triplication of human chromosome 21 and is associated with deviations in cortical development evidenced by simplified gyral appearance and reduced cortical surface area. Radial g...

Authors: Ana A. Baburamani, Regina T. Vontell, Alena Uus, Maximilian Pietsch, Prachi A. Patkee, Jo Wyatt-Ashmead, Evonne C. Chin-Smith, Veena G. Supramaniam, J. Donald Tournier, Maria Deprez and Mary A. Rutherford

Defining novel functions for cerebrospinal fluid in ALS pathophysiology

Despite the considerable progress made towards understanding ALS pathophysiology, several key features of ALS remain unexplained, from its aetiology to its epidemiological aspects. The glymphatic system, which...

Authors: Koy Chong Ng Kee Kwong, Arpan R. Mehta, Maiken Nedergaard and Siddharthan Chandran

BRAF V600E mutation mediates FDG-methionine uptake mismatch in polymorphous low-grade neuroepithelial tumor of the young

We present a case of a 14-year old boy with tumor-associated refractory epilepsy. Positron emission tomography imaging demonstrated a region with heterogeneous high ¹¹C-methionine uptake and a region with homogen...

Authors: Kensuke Tateishi, Naoki Ikegaya, Naoko Udaka, Jo Sasame, Takahiro Hayashi, Yohei Miyake, Tetsuhiko Okabe, Ryogo Minamimoto, Hidetoshi Murata, Daisuke Utsunomiya, Shoji Yamanaka and Tetsuya Yamamoto

RNA-recognition motif in Matrin-3 mediates neurodegeneration through interaction with hnRNPM

Amyotrophic lateral sclerosis (ALS) is an adult-onset, fatal neurodegenerative disease characterized by progressive loss of upper and lower motor neurons. While pathogenic mutations in the DNA/RNA-binding prot...

Authors: Nandini Ramesh, Sukhleen Kour, Eric N. Anderson, Dhivyaa Rajasundaram and Udai Bhan Pandey

Tau reduction in aged mice does not impact Microangiopathy

Microangiopathy, including proliferation of small diameter capillaries, increasing vessel tortuosity, and increased capillary blockage by leukocytes, was previously observed in the aged rTg4510 mouse model. Si...

Authors: Rachel E. Bennett, Miwei Hu, Analiese Fernandes, Marta Perez-Rando, Ashley Robbins, Tarun Kamath, Simon Dujardin and Bradley T. Hyman

Single-cell mass cytometry reveals complex myeloid cell composition in active lesions of progressive multiple sclerosis

Myeloid cells contribute to inflammation and demyelination in the early stages of multiple sclerosis (MS), but it is still unclear to what extent these cells are involved in active lesion formation in progress...

Authors: Chotima Böttcher, Marlijn van der Poel, Camila Fernández-Zapata, Stephan Schlickeiser, Julia K. H. Leman, Cheng-Chih Hsiao, Mark R. Mizee, Adelia, Maria C. J. Vincenten, Desiree Kunkel, Inge Huitinga, Jörg Hamann and Josef Priller

Lipid-specific IgMs induce antiviral responses in the CNS: implications for progressive multifocal leukoencephalopathy in multiple sclerosis

Progressive multi-focal leukoencephalopathy (PML) is a potentially fatal encephalitis caused by JC polyomavirus (JCV). PML principally affects people with a compromised immune system, such as patients with mul...

Authors: Lorna Hayden, Tiia Semenoff, Verena Schultz, Simon F. Merz, Katie J. Chapple, Moses Rodriguez, Arthur E. Warrington, Xiaohong Shi, Clive S. McKimmie, Julia M. Edgar, Katja Thümmler, Chris Linington and Marieke Pingen

Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings

Authors: Rie Saito, Norikazu Hara, Mari Tada, Yoshiaki Honma, Akinori Miyashita, Osamu Onodera, Takeshi Ikeuchi and Akiyoshi Kakita

Prominent microglial inclusions in transgenic mouse models of α-synucleinopathy that are distinct from neuronal lesions

Alpha-synucleinopathies are a group of progressive neurodegenerative disorders, characterized by intracellular deposits of aggregated α-synuclein (αS). The clinical heterogeneity of these diseases is thought t...

Authors: Gaye Tanriöver, Mehtap Bacioglu, Manuel Schweighauser, Jasmin Mahler, Bettina M. Wegenast-Braun, Angelos Skodras, Ulrike Obermüller, Melanie Barth, Deborah Kronenberg-Versteeg, K. Peter R. Nilsson, Derya R. Shimshek, Philipp J. Kahle, Yvonne S. Eisele and Mathias Jucker

P53 aggregation, interactions with tau, and impaired DNA damage response in Alzheimer’s disease

The transcription factor, p53, is critical for many important cellular functions involved in genome integrity, including cell cycle control, DNA damage response, and apoptosis. Disruption of p53 results in a w...

Authors: Kathleen M. Farmer, Gaurav Ghag, Nicha Puangmalai, Mauro Montalbano, Nemil Bhatt and Rakez Kayed

Demonstrating a reduced capacity for removal of fluid from cerebral white matter and hypoxia in areas of white matter hyperintensity associated with age and dementia

White matter hyperintensities (WMH) occur in association with dementia but the aetiology is unclear. Here we test the hypothesis that there is a combination of impaired elimination of interstitial fluid from t...

Authors: Matthew MacGregor Sharp, Satoshi Saito, Abby Keable, Maureen Gatherer, Roxana Aldea, Nivedita Agarwal, Julie E. Simpson, Stephen B. Wharton, Roy O. Weller and Roxana O. Carare

Co-expression of NMDA-receptor subunits NR1, NR2A, and NR2B in dysplastic neurons of teratomas in patients with paraneoplastic NMDA-receptor-encephalitis: a retrospective clinico-pathology study of 159 patients

To comprehensively describe the pathological features of neurons in patients with ovarian teratomas and paraneoplastic anti-NMDAR encephalitis (anti-NMDARE), emphasizing on NMDA-receptor expression and infiltr...

Authors: Xin-Yue Jiang, Song Lei, Le Zhang, Xu Liu, Min-Tao Lin, Ingmar Blumcke, Yue-Shan Piao, Dong Zhou and Jin-Mei Li

Microglia depletion diminishes key elements of the leukotriene pathway in the brain of Alzheimer’s Disease mice

Leukotrienes (LTs) contribute to the neuropathology of chronic neurodegenerative disorders including Alzheimer’s Disease (AD), where they mediate neuroinflammation and neuronal cell-death. In consequence, bloc...

Authors: J. Michael, M. S. Unger, R. Poupardin, P. Schernthaner, H. Mrowetz, J. Attems and L. Aigner

Clinical, radiological and molecular characterization of intramedullary astrocytomas

Intramedullary astrocytomas (IMAs) are rare tumors, and few studies specific to the molecular alterations of IMAs have been performed. Recently, KIAA1549-BRAF fusions and the H3F3A p.K27M mutation have been descr...

Authors: Laetitia Lebrun, Barbara Meléndez, Oriane Blanchard, Nancy De Nève, Claude Van Campenhout, Julie Lelotte, Danielle Balériaux, Matteo Riva, Jacques Brotchi, Michaël Bruneau, Olivier De Witte, Christine Decaestecker, Nicky D’Haene and Isabelle Salmon

Upregulating β-hexosaminidase activity in rodents prevents α-synuclein lipid associations and protects dopaminergic neurons from α-synuclein-mediated neurotoxicity

Sandhoff disease (SD) is a lysosomal storage disease, caused by loss of β-hexosaminidase (HEX) activity resulting in the accumulation of ganglioside GM2. There are shared features between SD and Parkinson’s di...

Authors: Oeystein R. Brekk, Joanna A. Korecka, Cecile C. Crapart, Mylene Huebecker, Zachary K. MacBain, Sara Ann Rosenthal, Miguel Sena-Esteves, David A. Priestman, Frances M. Platt, Ole Isacson and Penelope J. Hallett

Intramuscular injection of vectorized-scFvMC1 reduces pathological tau in two different tau transgenic models

With evidence supporting the prion-like spreading of extracellular tau as a mechanism for the initiation and progression of Alzheimer’s disease (AD), immunotherapy has emerged as a potential disease-modifying ...

Authors: Francesca Vitale, Jasmin Ortolan, Bruce T. Volpe, Philippe Marambaud, Luca Giliberto and Cristina d’Abramo

Distinct tissue injury patterns in juvenile dermatomyositis auto-antibody subgroups

Juvenile dermatomyositis (JDM) can be classified into clinical serological subgroups by distinct myositis-specific antibodies (MSAs). It is incompletely understood whether different MSAs are associated with di...

Authors: Mailan Nguyen, Vy Do, Paul C. Yell, Chanhee Jo, Jie Liu, Dennis K. Burns, Tracey Wright and Chunyu Cai

A comprehensive DNA panel next generation sequencing approach supporting diagnostics and therapy prediction in neurooncology

Recent updates in the classification of central nervous system (CNS) tumors have increased the need for molecular testing. Assessment of multiple alterations in parallel, complex combinations of gene sequence ...

Authors: Julia Lorenz, Tanja Rothhammer-Hampl, Saida Zoubaa, Elisabeth Bumes, Tobias Pukrop, Oliver Kölbl, Selim Corbacioglu, Nils O. Schmidt, Martin Proescholdt, Peter Hau and Markus J. Riemenschneider

Correction to: Brain-derived exosomes from dementia with Lewy bodies propagate α-synuclein pathology

An amendment to this paper has been published and can be accessed via the original article.

Authors: Jennifer Ngolab, Ivy Trinh, Edward Rockenstein, Michael Mante, Jazmin Florio, Margarita Trejo, Deborah Masliah, Anthony Adame, Eliezer Masliah and Robert A. Rissman

The carboxyl termini of RAN translated GGGGCC nucleotide repeat expansions modulate toxicity in models of ALS/FTD

An intronic hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This repeat is thought to elicit toxicity through RNA med...

Authors: Fang He, Brittany N. Flores, Amy Krans, Michelle Frazer, Sam Natla, Sarjina Niraula, Olamide Adefioye, Sami J. Barmada and Peter K. Todd

Correction to: Different aspects of Alzheimer’s disease-related amyloid β-peptide pathology and their relationship to amyloid positron emission tomography imaging and dementia

An amendment to this paper has been published and can be accessed via the original article.

Authors: Dietmar Rudolf Thal, Alicja Ronisz, Thomas Tousseyn, Ajeet Rijal Upadhaya, Karthikeyan Balakrishnan, Rik Vandenberghe, Mathieu Vandenbulcke, Christine A. F. von Arnim, Markus Otto, Thomas G. Beach, Johan Lilja, Kerstin Heurling, Aruna Chakrabarty, Azzam Ismail, Christopher Buckley, Adrian P. L. Smith…

BCAS1-positive immature oligodendrocytes are affected by the α-synuclein-induced pathology of multiple system atrophy

Multiple system atrophy (MSA) is pathologically characterized by the presence of fibrillar α-synuclein-immunoreactive inclusions in oligodendrocytes. Although the myelinating process of oligodendrocytes can be...

Authors: Seiji Kaji, Takakuni Maki, Jun Ueda, Tomoyuki Ishimoto, Yutaka Inoue, Ken Yasuda, Masanori Sawamura, Rie Hikawa, Takashi Ayaki, Hodaka Yamakado and Ryosuke Takahashi

Different effects of constitutive and induced microbiota modulation on microglia in a mouse model of Alzheimer’s disease

It was recently revealed that gut microbiota promote amyloid-beta (Aβ) burden in mouse models of Alzheimer’s disease (AD). However, the underlying mechanisms when using either germ-free (GF) housing conditions...

Authors: Charlotte Mezö, Nikolaos Dokalis, Omar Mossad, Ori Staszewski, Jana Neuber, Bahtiyar Yilmaz, Daniel Schnepf, Mercedes Gomez de Agüero, Stephanie C. Ganal-Vonarburg, Andrew J. Macpherson, Melanie Meyer-Luehmann, Peter Staeheli, Thomas Blank, Marco Prinz and Daniel Erny

Phosphorylated Aβ peptides in human Down syndrome brain and different Alzheimer’s-like mouse models

The deposition of neurotoxic amyloid-β (Aβ) peptides in extracellular plaques in the brain parenchyma is one of the most prominent neuropathological features of Alzheimer’s disease (AD), and considered to be c...

Authors: Sathish Kumar, Cynthia A. Lemere and Jochen Walter

Towards an improved early diagnosis of neurodegenerative diseases: the emerging role of in vitro conversion assays for protein amyloids

Tissue accumulation of abnormal aggregates of amyloidogenic proteins such as prion protein, α-synuclein, and tau represents the hallmark of most common neurodegenerative disorders and precedes the onset of sym...

Authors: Niccolò Candelise, Simone Baiardi, Alessia Franceschini, Marcello Rossi and Piero Parchi

Loss of Tdp-43 disrupts the axonal transcriptome of motoneurons accompanied by impaired axonal translation and mitochondria function

Protein inclusions containing the RNA-binding protein TDP-43 are a pathological hallmark of amyotrophic lateral sclerosis and other neurodegenerative disorders. The loss of TDP-43 function that is associated w...

Authors: Michael Briese, Lena Saal-Bauernschubert, Patrick Lüningschrör, Mehri Moradi, Benjamin Dombert, Verena Surrey, Silke Appenzeller, Chunchu Deng, Sibylle Jablonka and Michael Sendtner

A dual-genotype oligoastrocytoma with histologic, molecular, radiological and time-course features

A case of a true dual-genotype IDH-mutant oligoastrocytoma with two different cell types within a single mass in a young woman is presented. Imaging findings of the left frontal infiltrating glioma predicted the ...

Authors: Mac Lean P. Nasrallah, Arati Desai, Donald M. O’Rourke, Lea F. Surrey and Joel M. Stein

Meningioma cells express primary cilia but do not transduce ciliary Hedgehog signals

Meningiomas are the most common primary intracranial tumors, but treatment options for meningioma patients are limited due to incomplete understanding of tumor biology. A small percentage of meningiomas harbor...

Authors: Sarah Findakly, Abrar Choudhury, Vikas Daggubati, Melike Pekmezci, Ursula E. Lang and David R. Raleigh

Orbital Rosai-Dorfman disease initially diagnosed as IgG4-related disease: a case report

Inflammatory orbital lesions include a broad list of diagnoses, many of them with overlapping clinical and radiographic features. They often present a diagnostic conundrum, even to the most experienced orbital...

Authors: Nishanth S. Iyengar, Danielle Golub, Michelle W. McQuinn, Travis Hill, Karen Tang, Sharon L. Gardner, David H. Harter, Chandranath Sen, David A. Staffenberg, Kristen Thomas, Zachary Elkin, Irina Belinsky and Christopher William

A novel PARD3B-NUTM1 fusion in an aggressive primary CNS embryonal tumor in a young adult

Authors: Kyungmin Ko, Takashi Kitani, Brent T. Harris, Amjad N. Anaizi, David Solomon, Arie Perry, Jeffrey Toretsky and Metin Ozdemirli

Global activation of oncogenic pathways underlies therapy resistance in diffuse midline glioma

Diffuse midline gliomas (DMGs) are aggressive pediatric brain tumors with dismal prognosis due to therapy-resistant tumor growth and invasion. We performed the first integrated histologic/genomic/proteomic ana...

Authors: M.-M. Georgescu, M. Z. Islam, Y. Li, M. L. Circu, J. Traylor, C. M. Notarianni, C. N. Kline and D. K. Burns

C9orf72-associated SMCR8 protein binds in the ubiquitin pathway and with proteins linked with neurological disease

A pathogenic GGGCCC hexanucleotide expansion in the first intron/promoter region of the C9orf72 gene is the most common mutation associated with amyotrophic lateral sclerosis (ALS). The C9orf72 gene product forms...

Authors: John L. Goodier, Alisha O. Soares, Gavin C. Pereira, Lauren R. DeVine, Laura Sanchez, Robert N. Cole and Jose Luis García-Pérez

The unfolded protein response is activated in the olfactory system in Alzheimer’s disease

Olfactory dysfunction is an early and prevalent symptom of Alzheimer’s disease (AD) and the olfactory bulb is a nexus of beta-amyloid plaque and tau neurofibrillary tangle (NFT) pathology during early AD progr...

Authors: Helen C. Murray, Birger Victor Dieriks, Molly E. V. Swanson, Praju Vikas Anekal, Clinton Turner, Richard L. M. Faull, Leonardo Belluscio, Alan Koretsky and Maurice A. Curtis

Fyn depletion ameliorates tau^P301L-induced neuropathology

The Src family non-receptor tyrosine kinase Fyn has been implicated in neurodegeneration of Alzheimer’s disease through interaction with amyloid β (Aβ). However, the role of Fyn in the pathogenesis of primary ...

Authors: Guanghao Liu, Kimberly L. Fiock, Yona Levites, Todd E. Golde, Marco M. Hefti and Gloria Lee

Molecular and clinicopathologic features of gliomas harboring NTRK fusions

Fusions involving neurotrophic tyrosine receptor kinase (NTRK) genes are detected in ≤2% of gliomas and can promote gliomagenesis. The remarkable therapeutic efficacy of TRK inhibitors, which are among the first ...

Authors: Matthew Torre, Varshini Vasudevaraja, Jonathan Serrano, Michael DeLorenzo, Seth Malinowski, Anne-Florence Blandin, Melanie Pages, Azra H. Ligon, Fei Dong, David M. Meredith, MacLean P. Nasrallah, Craig Horbinski, Sonika Dahiya, Keith L. Ligon, Mariarita Santi, Shakti H. Ramkissoon…

Impairment in dynein-mediated nuclear translocation by BICD2 C-terminal truncation leads to neuronal migration defect and human brain malformation

During brain development, the nucleus of migrating neurons follows the centrosome and translocates into the leading process. Defects in these migratory events, which affect neuronal migration, cause lissenceph...

Authors: Meng-Han Tsai, Haw-Yuan Cheng, Fang-Shin Nian, Chen Liu, Nian-Hsin Chao, Kuo-Liang Chiang, Shu-Fang Chen and Jin-Wu Tsai

Molecular identification of CNS NB-FOXR2, CNS EFT-CIC, CNS HGNET-MN1 and CNS HGNET-BCOR pediatric brain tumors using tumor-specific signature genes

Four molecular types of rare central nervous system (CNS) tumors have been recently identified by gene methylation profiling: CNS Neuroblastoma with FOXR2 activation (CNS NB-FOXR2), CNS Ewing Sarcoma Family Tumor...

Authors: Maria Łastowska, Joanna Trubicka, Anna Sobocińska, Bartosz Wojtas, Magdalena Niemira, Anna Szałkowska, Adam Krętowski, Agnieszka Karkucińska-Więckowska, Magdalena Kaleta, Maria Ejmont, Marta Perek-Polnik, Bożenna Dembowska-Bagińska, Wiesława Grajkowska and Ewa Matyja