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Gilles Maussion, Cristiana Cruceanu, Jill A Rosenfeld, Scott C Bell, Fabrice Jollant, Jin Szatkiewicz, Ryan L Collins, Carrie Hanscom, Ilaria Kolobova, Nicolas Menjot de Champfleur, Ian Blumenthal, Colby Chiang, Vanessa Ota, Christina Hultman, Colm O'Dushlaine, Steve McCarroll, Martin Alda, Sebastien Jacquemont, Zehra Ordulu, Christian R Marshall, Melissa T Carter, Lisa G Shaffer, Pamela Sklar, Santhosh Girirajan, Cynthia C Morton, James F Gusella, Gustavo Turecki, Dimitri J Stavropoulos, Patrick F Sullivan, Stephen W Scherer, Michael E Talkowski, Carl Ernst
We performed whole-genome sequencing on an individual from a family with variable psychiatric phenotypes that had a sensory processing disorder, apraxia, and autism. The proband harbored a maternally inherited balanced translocation (46,XY,t(11;14)(p12;p12)mat) that disrupted LRRC4C, a member of the highly specialized netrin G family of axon guidance molecules. The proband also inherited a paternally derived chromosomal inversion that disrupted DPP6, a potassium channel interacting protein. Copy Number (CN) analysis in 14,077 cases with neurodevelopmental disorders and 8,960 control subjects revealed that 60% of cases with exonic deletions in LRRC4C had a second clinically recognizable syndrome associated with variable clinical phenotypes, including 16p11...
October 19, 2016: American Journal of Medical Genetics. Part A
Qiang Yu, David Reutens, Kieran O'Brien, Viktor Vegh
OBJECTIVES: Tissue microstructure features, namely axon radius and volume fraction, provide important information on the function of white matter pathways. These parameters vary on the scale much smaller than imaging voxels (microscale) yet influence the magnetic resonance imaging diffusion signal at the image voxel scale (macroscale) in an anomalous manner. Researchers have already mapped anomalous diffusion parameters from magnetic resonance imaging data, but macroscopic variations have not been related to microscale influences...
October 18, 2016: Human Brain Mapping
George S Vidal, Maja Djurisic, Kiana Brown, Richard W Sapp, Carla J Shatz
Synapse density on cortical pyramidal neurons is modulated by experience. This process is highest during developmental critical periods, when mechanisms of synaptic plasticity are fully engaged. In mouse visual cortex, the critical period for ocular dominance (OD) plasticity coincides with the developmental pruning of synapses. At this time, mice lacking paired Ig-like receptor B (PirB) have excess numbers of dendritic spines on L5 neurons; these spines persist and are thought to underlie the juvenile-like OD plasticity observed in adulthood...
September 2016: ENeuro
Andreas Spiegler, Enrique C A Hansen, Christophe Bernard, Anthony R McIntosh, Viktor K Jirsa
When the brain is stimulated, for example, by sensory inputs or goal-oriented tasks, the brain initially responds with activities in specific areas. The subsequent pattern formation of functional networks is constrained by the structural connectivity (SC) of the brain. The extent to which information is processed over short- or long-range SC is unclear. Whole-brain models based on long-range axonal connections, for example, can partly describe measured functional connectivity dynamics at rest. Here, we study the effect of SC on the network response to stimulation...
September 2016: ENeuro
Sian Lewis
No abstract text is available yet for this article.
October 18, 2016: Nature Reviews. Neuroscience
Christopher S Medina, Octavian Biris, Tomas L Falzone, Xiaowei Zhang, Amber J Zimmerman, Elaine L Bearer
Microtubule-based motors carry cargo back and forth between the synaptic region and the cell body. Defects in axonal transport result in peripheral neuropathies, some of which are caused by mutations in KIF5A, a gene encoding one of the heavy chain isoforms of conventional kinesin-1. Some mutations in KIF5A also cause severe central nervous system defects in humans. While transport dynamics in the peripheral nervous system have been well characterized experimentally, transport in the central nervous system is less experimentally accessible and until now not well described...
October 14, 2016: NeuroImage
Lipeng Ning, Evren Özarslan, Carl-Fredrik Westin, Yogesh Rathi
Inferring the microstructure of complex media from the diffusive motion of molecules is a challenging problem in diffusion physics. In this paper, we introduce a novel representation of diffusion MRI (dMRI) signal from tissue with spatially-varying diffusivity using a diffusion disturbance function. This disturbance function contains information about the (intra-voxel) spatial fluctuations in diffusivity due to restrictions, hindrances and tissue heterogeneity of the underlying tissue substrate. We derive the short- and long-range disturbance coefficients from this disturbance function to characterize the tissue structure and organization...
October 14, 2016: NeuroImage
George Taylor-Walker, Savannah A Lynn, Eloise Keeling, Rosie Munday, David A Johnston, Anton Page, Jennifer A Scott, Srini Goverdhan, Andrew J Lotery, J Arjuna Ratnayaka
Age-related Macular Degeneration (AMD) is a common, irreversible blinding condition that leads to the loss of central vision. AMD has a complex aetiology with both genetic as well as environmental risks factors, and share many similarities with Alzheimer's disease. Recent findings have contributed significantly to unravelling its genetic architecture that is yet to be matched by molecular insights. Studies are made more challenging by observations that aged and AMD retinas accumulate the highly pathogenic Alzheimer's-related Amyloid beta (Aβ) group of peptides, for which there appears to be no clear genetic basis...
October 14, 2016: Experimental Eye Research
Jason Fleming, Dianna Quan
We present a patient with congenital spinal muscular atrophy associated with pain, subjective sensory loss, right talipes equinovarus, delayed walking, and progressive gait impairment. A sister and niece reportedly had Charcot-Marie-Tooth 1A, but the patient's electromyogram showed an axonal motor neuropathy or neuronopathy. We identified a c.806G>A TRPV4 gene mutation causing an Arg269His amino acid substitution. TRPV4 mutations cause variable phenotypes including axonal sensorimotor neuropathy and motor neuropathy or neuronopathy...
September 16, 2016: Neuromuscular Disorders: NMD
Luca Padua, Daniele Coraci, Carmen Erra, Costanza Pazzaglia, Ilaria Paolasso, Claudia Loreti, Pietro Caliandro, Lisa D Hobson-Webb
Carpal tunnel syndrome is the most common peripheral nerve entrapment syndrome worldwide. The clinical symptoms and physical examination findings in patients with this syndrome are recognised widely and various treatments exist, including non-surgical and surgical options. Despite these advantages, there is a paucity of evidence about the best approaches for assessment of carpal tunnel syndrome and to guide treatment decisions. More objective methods for assessment, including electrodiagnostic testing and nerve imaging, provide additional information about the extent of axonal involvement and structural change, but their exact benefit to patients is unknown...
November 2016: Lancet Neurology
Mansi R Khanna, Jane Kovalevich, Virginia M-Y Lee, John Q Trojanowski, Kurt R Brunden
A group of neurodegenerative diseases referred to as tauopathies are characterized by the presence of brain cells harboring inclusions of pathological species of the tau protein. These disorders include Alzheimer's disease and frontotemporal lobar degeneration due to tau pathology, including progressive supranuclear palsy, corticobasal degeneration, and Pick's disease. Tau is normally a microtubule (MT)-associated protein that appears to play an important role in ensuring proper axonal transport, but in tauopathies tau becomes hyperphosphorylated and disengages from MTs, with consequent misfolding and deposition into inclusions that mainly affect neurons but also glia...
October 2016: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
Yusuf A Rajabally, Fu Liong Hiew
INTRODUCTION: The most efficient method of performing electrophysiology for Guillain-Barré syndrome (GBS) is unknown. METHODS: We retrospectively analyzed electrophysiological data of 97 consecutive GBS patients from Birmingham, U.K. (2001-12) studied ≤3 weeks post-onset. RESULTS: The sensitivity of electrophysiology for each GBS subtype was dependent on the tested upper and lower limb nerves. In acute inflammatory demyelinating polyneuropathy (AIDP), abnormalities were predominant in the arms, whereas leg abnormalities predominated in axonal GBS...
October 17, 2016: Muscle & Nerve
Ludger Schöls
No abstract text is available yet for this article.
October 17, 2016: JAMA Neurology
David S Lynch, Wei Jia Zhang, Rahul Lakshmanan, Justin A Kinsella, Günes Altiokka Uzun, Merih Karbay, Zeynep Tüfekçioglu, Hasmet Hanagasi, Georgina Burke, Nicola Foulds, Simon R Hammans, Anupam Bhattacharjee, Heather Wilson, Matthew Adams, Mark Walker, James A R Nicoll, Jeremy Chataway, Nick Fox, Indran Davagnanam, Rahul Phadke, Henry Houlden
Importance: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a frequent cause of adult-onset leukodystrophy known to be caused by autosomal dominant mutations in the CSF1R (colony-stimulating factor 1) gene. The discovery that CSF1R mutations cause ALSP led to more accurate prognosis and genetic counseling for these patients in addition to increased interest in microglia as a target in neurodegeneration. However, it has been known since the discovery of the CSF1R gene that there are patients with typical clinical and radiologic evidence of ALSP who do not carry pathogenic CSF1R mutations...
October 17, 2016: JAMA Neurology
Robert C A M van Waardenburg
Tyrosyl-DNA phosphodiesterase I (TDP1), like most DNA repair associated proteins, is not essential for cell viability. However, dysfunctioning TDP1 or ATM (ataxia telangiectasia mutated) results in autosomal recessive neuropathology with similar phenotypes, including cerebellar atrophy. Dual inactivation of TDP1 and ATM causes synthetic lethality. A TDP1H(493)R catalytic mutant is associated with spinocerebellar ataxia with axonal neuropathy (SCAN1), and stabilizes the TDP1 catalytic obligatory enzyme-DNA covalent complex...
2016: Journal of Neurology & Neuromedicine
Abdurrahman Emir, Yıldıray Kalkan, Habib Bostan
OBJECTIVES: We investigated the histopathological effects of metamizole sodium (MS) on the sciatic nerve. MATERIALS AND METHODS: This study was performed using 48 adult male Wistar albino rats. Ten groups were constituted with 6 rats in each group. MS injection into the sciatic nerve (group 1), MS injection into the muscle [group 3 (50 mg/kg, 0.4 ml) and group 5 (50 mg/kg, 0.8 ml)], MS injection into the muscle cavity in the vicinity of the sciatic nerve [group 2 (50 mg/kg, 0...
August 2016: Iranian Journal of Basic Medical Sciences
Jonathan C W Edwards
It is widely perceived that there is a problem in giving a naturalistic account of mental representation that deals adequately with the issue of meaning, interpretation, or significance (semantic content). It is suggested here that this problem may arise partly from the conflation of two vernacular senses of representation: representation-as-origin and representation-as-input. The flash of a neon sign may in one sense represent a popular drink, but to function as a representation it must provide an input to a 'consumer' in the street...
2016: Frontiers in Psychology
Hanna Zwaka, Daniel Münch, Gisela Manz, Randolf Menzel, Jürgen Rybak
In the honeybee brain, two prominent tracts - the medial and the lateral antennal lobe tract - project from the primary olfactory center, the antennal lobes (ALs), to the central brain, the mushroom bodies (MBs), and the protocerebral lobe (PL). Intracellularly stained uniglomerular projection neurons were reconstructed, registered to the 3D honeybee standard brain atlas, and then used to derive the spatial properties and quantitative morphology of the neurons of both tracts. We evaluated putative synaptic contacts of projection neurons (PNs) using confocal microscopy...
2016: Frontiers in Neuroanatomy
Iryna Yavorska, Michael Wehr
Cortical inhibitory neurons exhibit remarkable diversity in their morphology, connectivity, and synaptic properties. Here, we review the function of somatostatin-expressing (SOM) inhibitory interneurons, focusing largely on sensory cortex. SOM neurons also comprise a number of subpopulations that can be distinguished by their morphology, input and output connectivity, laminar location, firing properties, and expression of molecular markers. Several of these classes of SOM neurons show unique dynamics and characteristics, such as facilitating synapses, specific axonal projections, intralaminar input, and top-down modulation, which suggest possible computational roles...
2016: Frontiers in Neural Circuits
H Yamamoto, R Matsumura, H Takaoki, S Katsurabayashi, A Hirano-Iwata, M Niwano
The structure and connectivity of cultured neuronal networks can be controlled by using micropatterned surfaces. Here, we demonstrate that the direction of signal propagation can be precisely controlled at a single-cell resolution by growing primary neurons on micropatterns. To achieve this, we first examined the process by which axons develop and how synapses form in micropatterned primary neurons using immunocytochemistry. By aligning asymmetric micropatterns with a marginal gap, it was possible to pattern primary neurons with a directed polarization axis at the single-cell level...
July 25, 2016: Applied Physics Letters
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