Neuroforum最新文献

Neuroforum: vom gedruckten Heft ins elektronische Zeitalter 神经论坛:从印刷版到电子时代

Neuroforum Pub Date : 2022-11-01 DOI: 10.1515/nf-2022-0022

Christine R. Rose, F. Kirchhoff

引用次数: 0

Non-coding repeat expansions associated with familial adult myoclonic epilepsy: a new paradigm of gene-independent monogenic disorders 与家族性成人肌阵挛性癫痫相关的非编码重复序列扩增:基因独立单基因疾病的新范式

Neuroforum Pub Date : 2022-11-01 DOI: 10.1515/nf-2022-0024

Theresa Kühnel, C. Depienne

{"title":"Non-coding repeat expansions associated with familial adult myoclonic epilepsy: a new paradigm of gene-independent monogenic disorders","authors":"Theresa Kühnel, C. Depienne","doi":"10.1515/nf-2022-0024","DOIUrl":"https://doi.org/10.1515/nf-2022-0024","url":null,"abstract":"Abstract Familial adult myoclonic epilepsy (FAME) is a rare autosomal dominant disorder characterized by cortical myoclonic tremor and seizures. FAME has been mapped to chromosomes (chr) 2, 3, 5 and 8, but the cause has remained elusive for more than a decade. An expansion of intronic TTTTA and TTTCA repeats in SAMD12 was identified as the cause of FAME1 in Japanese families linked to chr 8 in 2018. This discovery triggered the identification of identical repeat expansions at five additional loci (FAME2: STARD7; FAME3: MARCHF6; FAME4: YEATS2; FAME6: TNRC6A and FAME7: RAPGEF2). These genes encode proteins with different functions and subcellular localizations and their expression is unaltered in available peripheral tissues, suggesting that the expansion is pathogenic independently of the gene itself. The pathophysiological mechanisms are not yet known but possibly include toxicity at the RNA level or translation of toxic polypeptides from the repeats, a mechanism known as repeat-associated non-AUG (RAN) translation. FAME is a paradigm of human genetic disorder caused by a non-coding expansion unrelated to the gene where it occurs.","PeriodicalId":56108,"journal":{"name":"Neuroforum","volume":"28 1","pages":"223 - 232"},"PeriodicalIF":0.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41821742","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Catching up in Cologne – 31st Neurobiology Doctoral Students Workshop in Cologne 在科隆赶上-第31届神经生物学博士生研讨会在科隆

Neuroforum Pub Date : 2022-11-01 DOI: 10.1515/nf-2022-0017

Angelina Ruthe, Rebecca Figge-Schlensok

引用次数: 0

Forebrain development–an intricate balance decides between health and disease 前脑发育——健康与疾病之间的复杂平衡

Neuroforum Pub Date : 2022-10-24 DOI: 10.1515/nf-2022-0023

T. M. Mamo, A. Hammes

引用次数: 0

The visual representation of space in the primate brain 灵长类动物大脑中空间的视觉表现

Neuroforum Pub Date : 2022-10-11 DOI: 10.1515/nf-2022-0019

S. Dowiasch, A. Kaminiarz, F. Bremmer

{"title":"The visual representation of space in the primate brain","authors":"S. Dowiasch, A. Kaminiarz, F. Bremmer","doi":"10.1515/nf-2022-0019","DOIUrl":"https://doi.org/10.1515/nf-2022-0019","url":null,"abstract":"Abstract One of the major functions of our brain is to process spatial information and to make this information available to our motor systems to interact successfully with the environment. Numerous studies over the past decades and even centuries have investigated, how our central nervous system deals with this challenge. Spatial information can be derived from vision. We see, where the cup of coffee stands at the breakfast table or where the un-mute-button of our video-conference tool is. However, this is always just a snapshot, because the location of the projection of the cup or the un-mute-button shifts across the retina by each eye movement, i.e., 2–3 times per second. So, where exactly in space are objects located? And what signals guide self-motion and navigation through our environment? While also other sensory signals (vestibular, tactile, auditory, even smell) can help us localize objects in space and guide our navigation, here, we will focus on the dominant sense in primates: vision. We will review (i) how visual information is processed to eventually result in space perception, (ii) how this perception is modulated by action, especially eye movements, at the behavioral and at the neural level, and (iii) how spatial representations relate to other encodings of magnitude, i.e., time and number.","PeriodicalId":56108,"journal":{"name":"Neuroforum","volume":"28 1","pages":"199 - 209"},"PeriodicalIF":0.0,"publicationDate":"2022-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48403585","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

MicroRNAs in the auditory system: tiny molecules with big impact 听觉系统中的微小RNA：具有巨大影响的微小分子

Neuroforum Pub Date : 2022-10-07 DOI: 10.1515/nf-2022-0016

Lena Ebbers, Faiza Altaf, H. Nothwang

引用次数: 0

Collaborative Research Centre (CRC 1451) “Key mechanisms of motor control in health and disease” 合作研究中心(CRC 1451)“运动控制在健康和疾病中的关键机制”

Neuroforum Pub Date : 2022-09-22 DOI: 10.1515/nf-2022-0018

G. Fink, Silvia Daun, C. Grefkes

引用次数: 0

SPP2411: ‘Sensing LOOPS: cortico-subcortical interactions for adaptive sensing’ SPP2411：“传感回路：用于自适应传感的皮质下相互作用”

Neuroforum Pub Date : 2022-09-15 DOI: 10.1515/nf-2022-0021

L. de Hoz, L. Busse, Julio C. Hechavarría, A. Groh, Markus Rothermel