abstract：:Spinal and bulbar muscular atrophy (SBMA) is an inherited neuromuscular disease caused by expansion of a polyglutamine (polyQ) tract in the androgen receptor (AR). SBMA is triggered by the interaction between polyQ-AR and its natural ligands, testosterone and dihydrotestosterone (DHT). SBMA is characterized by the los...

journal_title：Acta neuropathologica

authors： Malena A,Pennuto M,Tezze C,Querin G,D'Ascenzo C,Silani V,Cenacchi G,Scaramozza A,Romito S,Morandi L,Pegoraro E,Russell AP,Sorarù G,Vergani L

更新日期：2013-07-01 00:00:00

abstract：:PICALM, a clathrin adaptor protein, plays important roles in clathrin-mediated endocytosis in all cell types. Recently, genome-wide association studies identified single nucleotide polymorphisms in PICALM gene as genetic risk factors for late-onset Alzheimer disease (LOAD). We analysed by western blotting with several...

journal_title：Acta neuropathologica

authors： Ando K,Brion JP,Stygelbout V,Suain V,Authelet M,Dedecker R,Chanut A,Lacor P,Lavaur J,Sazdovitch V,Rogaeva E,Potier MC,Duyckaerts C

更新日期：2013-06-01 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the aggregation of ubiquitinated proteins in affected motor neurons. Recent studies have identified several new molecular constituents of ALS-linked cellular aggregates, including FUS, TDP-43, OPTN, UBQLN2 and the translational product...

journal_title：Acta neuropathologica

authors： Blokhuis AM,Groen EJ,Koppers M,van den Berg LH,Pasterkamp RJ

更新日期：2013-06-01 00:00:00

abstract：:Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by an expanded trinucleotide CAG repeat in the gene coding for huntingtin. Deregulation of chromatin remodeling is linked to the pathogenesis of HD but the mechanism remains elusive. To identify what genes are deregulated by trimethyla...

journal_title：Acta neuropathologica

authors： Lee J,Hwang YJ,Shin JY,Lee WC,Wie J,Kim KY,Lee MY,Hwang D,Ratan RR,Pae AN,Kowall NW,So I,Kim JI,Ryu H

更新日期：2013-05-01 00:00:00

abstract：:Numerous families exhibiting both frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) have been described, and although many of these have been shown to harbour a repeat expansion in C9ORF72, several C9ORF72-negative FTD-ALS families remain. We performed neuropathological and genetic analysis of a la...

journal_title：Acta neuropathologica

authors： Dobson-Stone C,Luty AA,Thompson EM,Blumbergs P,Brooks WS,Short CL,Field CD,Panegyres PK,Hecker J,Solski JA,Blair IP,Fullerton JM,Halliday GM,Schofield PR,Kwok JB

更新日期：2013-04-01 00:00:00

abstract：:Patients with von Hippel-Lindau disease carry a germline mutation of the Von Hippel-Lindau (VHL) tumor-suppressor gene. We discuss the molecular consequences of loss of VHL gene function and their impact on the nervous system. Dysfunction of the VHL protein causes accumulation and activation of hypoxia inducible facto...

journal_title：Acta neuropathologica

authors： Vortmeyer AO,Falke EA,Gläsker S,Li J,Oldfield EH

更新日期：2013-03-01 00:00:00

abstract：:Meningiomas are among the most frequent intracranial tumors. The secretory variant of meningioma is characterized by glandular differentiation, formation of intracellular lumina and pseudopsammoma bodies, expression of a distinct pattern of cytokeratins and clinically by pronounced perifocal brain edema. Here we descr...

journal_title：Acta neuropathologica

authors： Reuss DE,Piro RM,Jones DT,Simon M,Ketter R,Kool M,Becker A,Sahm F,Pusch S,Meyer J,Hagenlocher C,Schweizer L,Capper D,Kickingereder P,Mucha J,Koelsche C,Jäger N,Santarius T,Tarpey PS,Stephens PJ,Andrew Futreal P,

更新日期：2013-03-01 00:00:00

abstract：:Accumulation of amyloid-β (Aβ) and neurofibrillary tangles in the brain, inflammation and synaptic and neuronal loss are some of the major neuropathological hallmarks of Alzheimer's disease (AD). While genetic mutations in amyloid precursor protein and presenilin-1 and -2 (PS1 and PS2) genes cause early-onset familial...

journal_title：Acta neuropathologica

authors： Wahlster L,Arimon M,Nasser-Ghodsi N,Post KL,Serrano-Pozo A,Uemura K,Berezovska O

更新日期：2013-02-01 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are relentlessly progressive neurodegenerative disorders with overlapping clinical, genetic and pathological features. Cytoplasmic inclusions of fused in sarcoma (FUS) are the hallmark of several forms of FTLD and ALS patients with mutati...

journal_title：Acta neuropathologica

authors： Mitchell JC,McGoldrick P,Vance C,Hortobagyi T,Sreedharan J,Rogelj B,Tudor EL,Smith BN,Klasen C,Miller CC,Cooper JD,Greensmith L,Shaw CE

更新日期：2013-02-01 00:00:00

abstract：:The current classification of human sporadic prion diseases recognizes six major phenotypic subtypes with distinctive clinicopathological features, which largely correlate at the molecular level with the genotype at the polymorphic codon 129 (methionine, M, or valine, V) in the prion protein gene and with the size of ...

journal_title：Acta neuropathologica

authors： Parchi P,de Boni L,Saverioni D,Cohen ML,Ferrer I,Gambetti P,Gelpi E,Giaccone G,Hauw JJ,Höftberger R,Ironside JW,Jansen C,Kovacs GG,Rozemuller A,Seilhean D,Tagliavini F,Giese A,Kretzschmar HA

更新日期：2012-10-01 00:00:00

abstract：:Mutations in the fused in sarcoma (FUS) gene are linked to a form of familial amyotrophic lateral sclerosis (ALS), ALS6. The FUS protein is a major component of the ubiquitin-positive neuronal cytoplasmic inclusions in both ALS6 and some rare forms of frontotemporal lobar degeneration (FTLD). The latter are now collec...

journal_title：Acta neuropathologica

authors： Aoki N,Higashi S,Kawakami I,Kobayashi Z,Hosokawa M,Katsuse O,Togo T,Hirayasu Y,Akiyama H

更新日期：2012-09-01 00:00:00

abstract：:Laquinimod (LAQ) is a new oral immunomodulatory compound that reduces relapse rate, brain atrophy and disability progression in multiple sclerosis (MS). LAQ has well-documented effects on inflammation in the periphery, but little is known about its direct activity within the central nervous system (CNS). To elucidate ...

journal_title：Acta neuropathologica

authors： Brück W,Pförtner R,Pham T,Zhang J,Hayardeny L,Piryatinsky V,Hanisch UK,Regen T,van Rossum D,Brakelmann L,Hagemeier K,Kuhlmann T,Stadelmann C,John GR,Kramann N,Wegner C

更新日期：2012-09-01 00:00:00

abstract：:Alterations in sphingolipid metabolism are described to contribute to various neurological disorders. We here determined the expression of enzymes involved in the sphingomyelin cycle and their products in postmortem brain tissue of multiple sclerosis (MS) patients. In parallel, we investigated the effect of the sphing...

journal_title：Acta neuropathologica

authors： van Doorn R,Nijland PG,Dekker N,Witte ME,Lopes-Pinheiro MA,van het Hof B,Kooij G,Reijerkerk A,Dijkstra C,van van der Valk P,van Horssen J,de Vries HE

更新日期：2012-09-01 00:00:00

abstract：:Pediatric glioblastomas (GBM) including diffuse intrinsic pontine gliomas (DIPG) are devastating brain tumors with no effective therapy. Here, we investigated clinical and biological impacts of histone H3.3 mutations. Forty-two DIPGs were tested for H3.3 mutations. Wild-type versus mutated (K27M-H3.3) subgroups were c...

journal_title：Acta neuropathologica

authors： Khuong-Quang DA,Buczkowicz P,Rakopoulos P,Liu XY,Fontebasso AM,Bouffet E,Bartels U,Albrecht S,Schwartzentruber J,Letourneau L,Bourgey M,Bourque G,Montpetit A,Bourret G,Lepage P,Fleming A,Lichter P,Kool M,von Deimling

更新日期：2012-09-01 00:00:00

abstract：:Macroautophagy is a dynamic process whereby cytoplasmic components are initially sequestered within autophagosomes. Recent studies have shown that the autophagosome membrane can selectively recognize ubiquitinated proteins and organelles through interaction with adapter proteins such as p62 and NBR1. Both proteins are...

journal_title：Acta neuropathologica

authors： Odagiri S,Tanji K,Mori F,Kakita A,Takahashi H,Wakabayashi K

更新日期：2012-08-01 00:00:00

abstract：:Aging and neurodegeneration are often accompanied by a functionally impaired ubiquitin-proteasome system (UPS). In tauopathies and polyglutamine diseases, a mutant form of ubiquitin B (UBB(+1)) accumulates in disease-specific aggregates. UBB(+1) mRNA is generated at low levels in vivo during transcription from the ubi...

journal_title：Acta neuropathologica

authors： Irmler M,Gentier RJ,Dennissen FJ,Schulz H,Bolle I,Hölter SM,Kallnik M,Cheng JJ,Klingenspor M,Rozman J,Ehrhardt N,Hermes DJ,Gailus-Durner V,Fuchs H,Hrabě de Angelis M,Meyer HE,Hopkins DA,Van Leeuwen FW,Beckers J

更新日期：2012-08-01 00:00:00

abstract：:Paediatric high grade glioma (pHGG) (World Health Organisation astrocytoma grades III and IV) remains poor prognosis tumours, with a median survival of only 15 months following diagnosis. Current investigation of anti-angiogenic strategies has focused on adult glioblastoma multiforme (GBM) with phase III trials target...

journal_title：Acta neuropathologica

authors： Smith SJ,Tilly H,Ward JH,Macarthur DC,Lowe J,Coyle B,Grundy RG

更新日期：2012-07-01 00:00:00

abstract：:Glioblastoma (GBM), the most common malignant brain tumor, is among the most lethal neoplasms, with a median survival of approximately 1 year. Prognosis is poor since GBMs possess a strong migratory and highly invasive potential, making complete surgical resection impossible. Reduced expression of carboxypeptidase E (...

journal_title：Acta neuropathologica

authors： Höring E,Harter PN,Seznec J,Schittenhelm J,Bühring HJ,Bhattacharyya S,von Hattingen E,Zachskorn C,Mittelbronn M,Naumann U

更新日期：2012-07-01 00:00:00

abstract：:Brain metastases (BM) are common in cancer patients and are associated with high morbidity and poor prognosis, even after intensive multimodal therapy including resection, radiotherapy (stereotactic radiosurgery or whole brain radiotherapy) and chemotherapy. However, advances in the understanding of the pathobiology o...

journal_title：Acta neuropathologica

authors： Preusser M,Capper D,Ilhan-Mutlu A,Berghoff AS,Birner P,Bartsch R,Marosi C,Zielinski C,Mehta MP,Winkler F,Wick W,von Deimling A

更新日期：2012-02-01 00:00:00

abstract：:Research efforts during the last decade have deciphered the basic molecular mechanisms governing mitochondrial fusion and fission. We now know that in mammalian cells mitochondrial fission is mediated by the large GTPase dynamin-related protein 1 (Drp1) acting in concert with outer mitochondrial membrane (OMM) protein...

journal_title：Acta neuropathologica

authors： Oettinghaus B,Licci M,Scorrano L,Frank S

更新日期：2012-02-01 00:00:00

abstract：:Focal cortical dysplasias (FCD) which represent a composite group of cortical malformations are increasingly recognized as morphological substrate for severe therapy-refractory epilepsy in children and young adults. However, presurgical evaluation remains challenging as not all FCD variants can be reliably detected by...

journal_title：Acta neuropathologica

authors： Mühlebner A,Coras R,Kobow K,Feucht M,Czech T,Stefan H,Weigel D,Buchfelder M,Holthausen H,Pieper T,Kudernatsch M,Blümcke I

更新日期：2012-02-01 00:00:00

abstract：:The brain tissue obtained from ninety-five cognitively unimpaired subjects, with ages ranging from 22 to 50 years upon death, were immunohistochemically assessed for neurodegenerative changes, i.e., hyperphosphorylated tau (HPτ) and β-amyloid (Aβ) pathology in predilection neuroanatomical areas. HPτ pathology was obse...

journal_title：Acta neuropathologica

authors： Elobeid A,Soininen H,Alafuzoff I

更新日期：2012-01-01 00:00:00

abstract：:Entorhinal cortex displays a distinctive organization in layer II and forms small elevations on its surface called entorhinal verrucae. In Alzheimer's disease, the verrucae disappear due to neurofibrillary tangle formation and neuronal death. Isosurface models were reconstructed from high-resolution ex vivo MRI volume...

journal_title：Acta neuropathologica

authors： Augustinack JC,Huber KE,Postelnicu GM,Kakunoori S,Wang R,van der Kouwe AJ,Wald LL,Stein TD,Frosch MP,Fischl B

更新日期：2012-01-01 00:00:00

abstract：:Olfactory dysfunction is a frequent and early feature of patients with neurodegenerative disorders such as Alzheimer's disease (AD) and Parkinson's disease (PD) and is very uncommon in patients with frontotemporal dementia (FTD). Mechanisms underlying this clinical manifestation are poorly understood but the premature...

journal_title：Acta neuropathologica

authors： Mundiñano IC,Caballero MC,Ordóñez C,Hernandez M,DiCaudo C,Marcilla I,Erro ME,Tuñon MT,Luquin MR

更新日期：2011-07-01 00:00:00

abstract：:Activation of the MAPK signaling pathway has been shown to be a unifying molecular feature in pilocytic astrocytoma (PA). Genetically, tandem duplications at chromosome 7q34 resulting in KIAA1549-BRAF fusion genes constitute the most common mechanism identified to date. To elucidate alternative mechanisms of aberrant ...

journal_title：Acta neuropathologica

authors： Cin H,Meyer C,Herr R,Janzarik WG,Lambert S,Jones DT,Jacob K,Benner A,Witt H,Remke M,Bender S,Falkenstein F,Van Anh TN,Olbrich H,von Deimling A,Pekrun A,Kulozik AE,Gnekow A,Scheurlen W,Witt O,Omran H,Jabado N,C

更新日期：2011-06-01 00:00:00

abstract：:The close correlation between abnormally low pre-mortem cerebrospinal fluid (CSF) concentrations of amyloid-β1-42 (Aβ(1-42)) and plaque burden measured by amyloid imaging as well as between pathologically increased levels of CSF tau and the extent of neurodegeneration measured by MRI has led to growing interest in usi...

journal_title：Acta neuropathologica

authors： Shaw LM,Vanderstichele H,Knapik-Czajka M,Figurski M,Coart E,Blennow K,Soares H,Simon AJ,Lewczuk P,Dean RA,Siemers E,Potter W,Lee VM,Trojanowski JQ,Alzheimer's Disease Neuroimaging Initiative.

更新日期：2011-05-01 00:00:00

abstract：:Missense mutations of the V600E type constitute the vast majority of tumor-associated somatic alterations in the v-RAF murine sarcoma viral oncogene homolog B1 (BRAF) gene. Initially described in melanoma, colon and papillary thyroid carcinoma, these alterations have also been observed in primary nervous system tumors...

journal_title：Acta neuropathologica

authors： Schindler G,Capper D,Meyer J,Janzarik W,Omran H,Herold-Mende C,Schmieder K,Wesseling P,Mawrin C,Hasselblatt M,Louis DN,Korshunov A,Pfister S,Hartmann C,Paulus W,Reifenberger G,von Deimling A

更新日期：2011-03-01 00:00:00

abstract：:Medulloblastoma (MB) represents approximately 4% of adult brain tumours, and as such is a poorly studied disease. Although many adult MB are treated using paediatric MB protocols, the reported outcomes are inferior to those observed in children. It remains unclear whether biologic differences underlie these clinical o...

journal_title：Acta neuropathologica

authors： Al-Halabi H,Nantel A,Klekner A,Guiot MC,Albrecht S,Hauser P,Garami M,Bognar L,Kavan P,Gerges N,Shirinian M,Roberge D,Muanza T,Jabado N

更新日期：2011-02-01 00:00:00

abstract：:Myotubular myopathy and centronuclear myopathies (CNM) are congenital myopathies characterized by generalized muscle weakness and mislocalization of muscle fiber nuclei. Genetically distinct forms exist, and mutations in BIN1 were recently identified in autosomal recessive cases (ARCNM). Amphiphysins have been implica...

journal_title：Acta neuropathologica

authors： Toussaint A,Cowling BS,Hnia K,Mohr M,Oldfors A,Schwab Y,Yis U,Maisonobe T,Stojkovic T,Wallgren-Pettersson C,Laugel V,Echaniz-Laguna A,Mandel JL,Nishino I,Laporte J

更新日期：2011-02-01 00:00:00

abstract：:Isocitrate dehydrogenase 1 (IDH1) mutations are frequent in astrocytomas, oligoastrocytomas and oligodendrogliomas. We previously reported the generation of a mutation-specific antibody that specifically detects R132H mutated IDH1 protein (clone H09). Here, we investigate the feasibility of H09 immunohistochemistry to...

journal_title：Acta neuropathologica

authors： Capper D,Reuss D,Schittenhelm J,Hartmann C,Bremer J,Sahm F,Harter PN,Jeibmann A,von Deimling A

更新日期：2011-02-01 00:00:00

abstract：:Most cases of frontotemporal lobar degeneration (FTLD) are characterized by abnormal intracellular accumulation of either tau or TDP-43 protein. However, in ~10% of cases, composed of a heterogenous collection of uncommon disorders, the molecular basis remains to be uncertain. We recently discovered that the pathologi...

journal_title：Acta neuropathologica

authors： Mackenzie IR,Munoz DG,Kusaka H,Yokota O,Ishihara K,Roeber S,Kretzschmar HA,Cairns NJ,Neumann M

更新日期：2011-02-01 00:00:00

abstract：:MicroRNA (miRNA) expression was assessed in human cerebral cortical gray matter (GM) and white matter (WM) in order to provide the first insights into the difference between GM and WM miRNA repertoires across a range of Alzheimer's disease (AD) pathology. RNA was isolated separately from GM and WM portions of superior...

journal_title：Acta neuropathologica

authors： Wang WX,Huang Q,Hu Y,Stromberg AJ,Nelson PT

更新日期：2011-02-01 00:00:00

abstract：:The E200K mutation is the most frequent prion protein gene (PRNP) mutation detected worldwide that is associated with Creutzfeldt-Jakob disease (CJD) and thought to have overlapping features with sporadic CJD, yet detailed neuropathological studies have not been reported. In addition to the prion protein, deposition o...

journal_title：Acta neuropathologica

authors： Kovacs GG,Seguin J,Quadrio I,Höftberger R,Kapás I,Streichenberger N,Biacabe AG,Meyronet D,Sciot R,Vandenberghe R,Majtenyi K,László L,Ströbel T,Budka H,Perret-Liaudet A

更新日期：2011-01-01 00:00:00

abstract：:This article highlights the features that connect prion diseases with other cerebral amyloidoses and how these relate to neurodegeneration, with focus on tau phosphorylation. It also discusses similarities between prion disease and Alzheimer's disease: mechanisms of amyloid formation, neurotoxicity, pathways involved ...

journal_title：Acta neuropathologica

authors： Reiniger L,Lukic A,Linehan J,Rudge P,Collinge J,Mead S,Brandner S

更新日期：2011-01-01 00:00:00

abstract：:The transmissible spongiform encephalopathies (TSEs) or prion diseases of animals are characterised by CNS spongiform change, gliosis and the accumulation of disease-associated forms of prion protein (PrP(d)). Particularly in ruminant prion diseases, a wide range of morphological types of PrP(d) depositions are found ...

journal_title：Acta neuropathologica

authors： Jeffrey M,McGovern G,Sisó S,González L

更新日期：2011-01-01 00:00:00

abstract：:Recent studies of genetic abnormalities in pediatric low-grade gliomas (LGGs) have focused on activation of the ERK/MAPK pathway by KIAA1549-BRAF gene fusions in the majority of pilocytic astrocytomas (PAs) and by rare mutations in elements of the pathway across histopathologically diverse LGGs. This study reports tha...

journal_title：Acta neuropathologica

authors： Tatevossian RG,Tang B,Dalton J,Forshew T,Lawson AR,Ma J,Neale G,Shurtleff SA,Bailey S,Gajjar A,Baker SJ,Sheer D,Ellison DW

更新日期：2010-12-01 00:00:00

abstract：:Modern neuropathology serves a key function in the multidisciplinary management of brain tumor patients. Owing to the recent advancements in molecular neurooncology, the neuropathological assessment of brain tumors is no longer restricted to provide information on a tumor's histological type and malignancy grade, but ...

journal_title：Acta neuropathologica

authors： Riemenschneider MJ,Jeuken JW,Wesseling P,Reifenberger G

更新日期：2010-11-01 00:00:00

abstract：:Protein aggregation is a major pathological hallmark of many neurodegenerative disorders including polyglutamine diseases. Aggregation of the mutated form of the disease protein ataxin-3 into neuronal nuclear inclusions is well described in the polyglutamine disorder spinocerebellar ataxia type 3 (SCA3 or Machado-Jose...

journal_title：Acta neuropathologica

authors： Seidel K,den Dunnen WF,Schultz C,Paulson H,Frank S,de Vos RA,Brunt ER,Deller T,Kampinga HH,Rüb U

更新日期：2010-10-01 00:00:00

abstract：:During corticogenesis, neurons adopt different migration pathways to reach their final position. The precursors of pyramidal neurons migrate radially, whereas most of the GABA-containing interneurons are generated in the ventral telencephalon and migrate tangentially into the neocortex. Then, they use a radial migrati...

journal_title：Acta neuropathologica

authors： Marcorelles P,Laquerrière A,Adde-Michel C,Marret S,Saugier-Veber P,Beldjord C,Friocourt G

更新日期：2010-10-01 00:00:00

abstract：:The amyloid cascade hypothesis of Alzheimer's disease (AD) is testable: it implies that interference with Abeta aggregation and plaque formation may be therapeutically useful. Abeta42 immunisation of amyloid precursor protein (APP) transgenic mice prevented plaque formation and caused removal of existing plaques. The ...

journal_title：Acta neuropathologica

authors： Boche D,Denham N,Holmes C,Nicoll JA

更新日期：2010-09-01 00:00:00