Tubulin methylation of lysine 40 by SETD2: a new way to tune neuronal functions?
This scientific commentary refers to ‘Neuronal SETD2 activity links microtubule methylation to an anxiety-like phenotype in mice’, by Koenninget al. (doi:10.1093/brain/awab200). (Source: Brain)
Source: Brain - August 11, 2021 Category: Neurology Source Type: research
Modelling Charcot-Marie-Tooth disease in a dish reveals common cell type-specific alterations
This scientific commentary refers to ‘Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction’, by Van Lentet al. (doi:10.1093/brain/awab226). (Source: Brain)
Source: Brain - August 4, 2021 Category: Neurology Source Type: research
Erratum to: Striatal and cerebellar vesicular acetylcholine transporter expression is disrupted in human DYT1 dystonia
Joachim Mazere, Bixente Dilharreguy, Gwena ëlle Catheline, Marie Vidailhet, Marc Deffains, Delphine Vimont, Bastien Ribot, Elodie Barse, Laura Cif, Bernard Mazoyer, Nicolas Langbour, Antonio Pisani, Michèle Allard, Frédéric Lamare, Dominique Guehl, Philippe Fernandez, Pierre Burbaud. Striatal and cerebellar vesicular acetylcholine transp orter expression is disrupted in human DYT1 dystonia.Brain. 2021;144(3):909 –923. doi:10.1093/brain/awaa465 (Source: Brain)
Source: Brain - July 29, 2021 Category: Neurology Source Type: research
Why electronic health records can do something big for clinical research
It has taken a while. The advocates of electronic health record (EHR) systems have been promising much for a very long time. Apparently, they would transform both healthcare and clinical research, leaving us astounded by their capabilities. Most observers have been highly sceptical. Until now, there has been little to get excited about apart from the huge amounts of money invested to get EHR infrastructure off the ground. IT solutions, including in the UK ’s NHS, have faltered—sometimes spectacularly—along the way. Overall, there has been very little to show for all the hype. (Source: Brain)
Source: Brain - July 28, 2021 Category: Neurology Source Type: research
Time for a new deal between neurology and psychoanalysis
Neurology, and medicine in general, is torn by opposing tensions: between universality, which is the goal of guidelines and protocols derived from clinical trials, and singularity, which personalized medicine seeks to understand. Centonze and Stampanoni Bassi argue that psychoanalysis could provide a bridge between these domains. (Source: Brain)
Source: Brain - July 20, 2021 Category: Neurology Source Type: research
Pathogenic mechanisms underlying SLC6A1 variant-mediated neurodevelopmental disorders
This scientific commentary refers to ‘Common molecular mechanisms ofSLC6A1 variant-mediated neurodevelopmental disorders in astrocytes and neurons ’ by Mermeret al. (doi:10.1093/brain/awab207). (Source: Brain)
Source: Brain - July 20, 2021 Category: Neurology Source Type: research
Erratum to: Reply: UQCRC1 variants in Parkinson’s disease: a large cohort study in Chinese mainland population
Chin-Hsien Lin, Matthew J. Farrer and Ruey-Meei Wu. Reply:UQCRC1 variants in Parkinson ’s disease: a large cohort study in Chinese mainland population.Brain. 2021; awab138. doi:10.1093/brain/awab138 (Source: Brain)
Source: Brain - July 19, 2021 Category: Neurology Source Type: research
Erratum to: Reply: Broca ’s area: why was neurosurgery neglected for so long when seeking to re-establish the scientific truth? and Where is the speech production area? Evidence from direct cortical electrical stimulation mapping
Diego L. Lorca-Puls, Andrea Gajardo-Vidal, David W. Green, Cathy J. Price. Reply: Broca ’s area: why was neurosurgery neglected for so long when seeking to re-establish the scientific truth?and Where is the speech production area? Evidence from direct cortical electrical stimulation mapping. Brain 2021;awab177. doi:10.1093/brain/awab177 (Source: Brain)
Source: Brain - July 19, 2021 Category: Neurology Source Type: research
Looking beyond indirect lesion network mapping of prosopagnosia: direct measures required
National Fund for Science and Innovation of CubaSequoia Funds for Research on Ageing and Mental HealthKU Leuven10.13039/501100004040C24/18/095European Research Council10.13039/100010663FP7-IDEAS-ERC295673ERC10.13039/100010663856495Future and Emerging TechnologiesProactive Program H2020-EU.1.2.2824160Industrial Leadership Program H2020-EU.1.2.2825079 (Source: Brain)
Source: Brain - July 17, 2021 Category: Neurology Source Type: research
Reply: Looking beyond indirect lesion network mapping of prosopagnosia: direct measures required
(Source: Brain)
Source: Brain - July 17, 2021 Category: Neurology Source Type: research
Senior moments
A Tattoo on my Brain: A Neurologist ’s Personal Battle against Alzheimer’s Disease By, GibbsDaniel with ,BarkerTeresa H., 2021Cambridge University Press ISBN: 9781108974677 £18.99 (Source: Brain)
Source: Brain - July 16, 2021 Category: Neurology Source Type: research
Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic
AbstractHeterozygous missenseHTRA1 mutations have been associated with an autosomal dominant cerebral small vessel disease (CSVD) whereas the pathogenicity of heterozygousHTRA1 stop codon variants is unclear. We performed a targeted high throughput sequencing of all known CSVD genes, includingHTRA1, in 3853 unrelated consecutive CSVD patients referred for molecular diagnosis. The frequency of heterozygousHTRA1 mutations leading to a premature stop codon in this patient cohort was compared with their frequency in large control databases. An analysis of HTRA1 mRNA was performed in several stop codon carrier patients. Clinica...
Source: Brain - July 16, 2021 Category: Neurology Source Type: research
Corrigendum to: Formation and immunomodulatory function of meningeal B cell aggregates in progressive CNS autoimmunity
Meike Mitsdoerffer, Giovanni Di Liberto, Sarah D ötsch, Christopher Sie, Ingrid Wagner, Monika Pfaller, Mario Kreutzfeldt, Simon Fräßle, Lilian Aly, Benjamin Knier, Dirk H. Busch, Doron Merkler, Thomas Korn. Formation and immunomodulatory function of meningeal B cell aggregates in progressive CNS autoimmunity.Brain 2021;awab093. doi:10.1093/brain/awab093 (Source: Brain)
Source: Brain - July 14, 2021 Category: Neurology Source Type: research
Corrigendum to: Medial temporal lobe connectivity and its associations with cognition in early Alzheimer ’s disease
David Berron, Danielle van Westen, Rik Ossenkoppele, Olof Strandberg, Oskar Hansson. Medial temporal lobe connectivity and its associations with cognition in early Alzheimer ’s disease.Brain. 2020;143(4):1233 –1248. doi:10.1093/brain/awaa068 (Source: Brain)
Source: Brain - July 14, 2021 Category: Neurology Source Type: research
Three-dimensional mapping of neurofibrillary tangle burden in the human medial temporal lobe
AbstractTau protein neurofibrillary tangles are closely linked to neuronal/synaptic loss and cognitive decline in Alzheimer ’s disease and related dementias. Our knowledge of the pattern of neurofibrillary tangle progression in the human brain, critical to the development of imaging biomarkers and interpretation ofin vivo imaging studies in Alzheimer ’s disease, is based on conventional two-dimensional histology studies that only sample the brain sparsely.To address this limitation,ex vivo MRI and dense serial histological imaging in 18 human medial temporal lobe specimens (age 75.3 ± 11.4 years, range 45 to 93) were ...
Source: Brain - July 14, 2021 Category: Neurology Source Type: research
