Social priming of hemispatial neglect affects spatial coding: Evidence from the Simon task.
Abstract
In the Simon effect (SE), choice reactions are fast if the location of the stimulus and the response correspond when stimulus location is task-irrelevant; therefore, the SE reflects the automatic processing of space. Priming of social concepts was found to affect automatic processing in the Stroop effect. We investigated whether spatial coding measured by the SE can be affected by the observer's mental state. We used two social priming manipulations of impairments: one involving spatial processing - hemispatial neglect (HN) and another involving color perception - achromatopsia (ACHM). In two expe...
Source: Consciousness and Cognition - August 16, 2016 Category: Neurology Authors: Arend I, Aisenberg D, Henik A Tags: Conscious Cogn Source Type: research
Genes, Vol. 7, Pages 41: Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
We report on two brothers with visual impairment, and non-syndromic alopecia in the elder proband. The parents were first-degree Pakistani cousins. Whole exome sequencing of the elder brother and parents, followed by Sanger sequencing of all four family members, led to the identification of the variants responsible for the two phenotypes. One variant was a homozygous nonsense variant in the inhibitory subunit of the cone-specific cGMP phosphodiesterase gene, PDE6H:c.35C & amp;gt;G (p.Ser12*). PDE6H is expressed in the cones of the retina, which are involved in perception of color vision. This is the second report of a homo...
Source: Genes - July 26, 2016 Category: Genetics & Stem Cells Authors: Christeen Pedurupillay Erlend Landsend Magnus Vigeland Muhammad Ansar Eirik Frengen Doriana Misceo Petter Str ømme Tags: Case Report Source Type: research
Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia
Conclusions
The two novel mutations found in the CNGA3 gene, c.997_998delGA and p.M424V, can cause complete achromatopsia. The vision of the patient was stationary until the third decade of life although the FAF was altered at the age of 22 years. (Source: Japanese Journal of Ophthalmology)
Source: Japanese Journal of Ophthalmology - April 26, 2016 Category: Opthalmology Source Type: research
The Regulatory Role of CNGB3 in Cones [Neurobiology]
Cone photoreceptor cyclic nucleotide-gated (CNG) channels play a pivotal role in cone phototransduction, which is a process essential for daylight vision, color vision, and visual acuity. Mutations in the cone channel subunits CNGA3 and CNGB3 are associated with human cone diseases, including achromatopsia, cone dystrophies, and early onset macular degeneration. Mutations in CNGB3 alone account for 50% of reported cases of achromatopsia. This work investigated the role of CNGB3 in cone light response and cone channel structural stability. As cones comprise only 2–3% of the total photoreceptor population in the wild-type ...
Source: Journal of Biological Chemistry - April 14, 2016 Category: Chemistry Authors: Ding, X.-Q., Thapa, A., Ma, H., Xu, J., Elliott, M. H., Rodgers, K. K., Smith, M. L., Wang, J.-S., Pittler, S. J., Kefalov, V. J. Tags: Membrane Biology Source Type: research
Chapter Five Ion Channels in the Eye
Publication date: 2016 Source:Advances in Protein Chemistry and Structural Biology, Volume 104 Author(s): Jonathan P. Giblin, Nuria Comes, Olaf Strauss, Xavier Gasull The eye is the sensory organ of vision. There, the retina transforms photons into electrical signals that are sent to higher brain areas to produce visual sensations. In the light path to the retina, different types of cells and tissues are involved in maintaining the transparency of avascular structures like the cornea or lens, while others, like the retinal pigment epithelium, have a critical role in the maintenance of photoreceptor function by ...
Source: Advances in Protein Chemistry and Structural Biology - March 31, 2016 Category: Biochemistry Source Type: research
Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia
Most inherited blinding diseases are characterized by compromised retinal function and progressive degeneration of photoreceptors. However, the factors that affect the life span of photoreceptors in such degenerative retinal diseases are rather poorly understood. Here, we explore the role of hyperpolarization-activated cyclic nucleotide-gated channel 1 (HCN1) in this context. HCN1 is known to adjust retinal function under mesopic conditions, and although it is expressed at high levels in rod and cone photoreceptor inner segments, no association with any retinal disorder has yet been found. We investigated the effects of an...
Source: Human Molecular Genetics - February 23, 2016 Category: Genetics & Stem Cells Authors: Schön, C., Asteriti, S., Koch, S., Sothilingam, V., Garrido, M. G., Tanimoto, N., Herms, J., Seeliger, M. W., Cangiano, L., Biel, M., Michalakis, S. Tags: ARTICLES Source Type: research
Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).
CONCLUSIONS: A novel homozygous PDE6C mutation was identified as the cause of ACHM. In addition, we identified an OPN1SW mutation in the sibling with complete ACHM, which might explain the difference in phenotype (complete versus incomplete ACHM) between the siblings.
PMID: 25605338 [PubMed - in process] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - February 17, 2016 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
Bilateral occipital strokes from an atherosclerotic trigeminal artery
A 58-year-old man with coronary disease presented with headache, confusion, and vision loss. On examination, he had retrograde and anterograde amnesia, superior homonymous quadrantanopias, and could not identify colors. MRI showed bilateral occipital infarcts involving the parahippocampal and lingual gyri (figure 1). CT angiography revealed a hypoplastic vertebrobasilar circulation, with a persistent right trigeminal artery supplying the rostral basilar artery (figure 2). Persistent fetal arteries may increase risk of atherogenesis due to increased turbulence.1 A rare cortical syndrome, new-onset achromatopsia with amnesia...
Source: Neurology - February 1, 2016 Category: Neurology Authors: Miller, E. C., Willey, J. Z. Tags: All Imaging, All Cerebrovascular disease/Stroke NEUROIMAGES Source Type: research
Ion Channels in the Eye: Involvement in Ocular Pathologies
Publication date: Available online 31 December 2015 Source:Advances in Protein Chemistry and Structural Biology Author(s): Jonathan P. Giblin, Nuria Comes, Olaf Strauss, Xavier Gasull The eye is the sensory organ of vision. There, the retina transforms photons into electrical signals that are sent to higher brain areas to produce visual sensations. In the light path to the retina, different types of cells and tissues are involved in maintaining the transparency of avascular structures like the cornea or lens, while others, like the retinal pigment epithelium, have a critical role in the maintenance of photorece...
Source: Advances in Protein Chemistry and Structural Biology - January 15, 2016 Category: Biochemistry Source Type: research
The cone dysfunction syndromes
We describe the clinical, psychophysical, electrophysiological and imaging findings that are characteristic to each condition in order to aid their accurate diagnosis, as well as highlight some classically held notions about these diseases that have come to be challenged over the recent years. The latest data regarding the genetic aetiology and pathological changes observed in the cone dysfunction syndromes are discussed, and, where relevant, translational avenues of research, including completed and anticipated interventional clinical trials, for some of the diseases described herein will be presented. Finally, we briefly...
Source: British Journal of Ophthalmology - December 21, 2015 Category: Opthalmology Authors: Aboshiha, J., Dubis, A. M., Carroll, J., Hardcastle, A. J., Michaelides, M. Tags: Vision, Open access, Neurology Review Source Type: research
Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia
Conclusions:
We firstly used the TES approach to identify genetic alterations in patients with ACHM. We uncovered three mutations in CNGA3, including one novel mutation. Our results not only expand the genotypic spectrum for CNGA3 mutations, but also demonstrate that the TES approach is a valuable tool for molecular diagnosis. (Source: Journal of Translational Medicine)
Source: Journal of Translational Medicine - October 22, 2015 Category: Research Authors: Fen-Fen LiXiu-Feng HuangJie ChenXu-Dong YuMei-Qin ZhengFan LuZi-Bing JinDe-Kang Gan Source Type: research
Jalili syndrome presenting with situs inversus totalis and keratoconus: the first case in the Indian subcontinent
Publication date: November 2015 Source:Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, Volume 120, Issue 5 Author(s): Parth Purwar, Sagar Sareen, Kishlay Bhartiya, Sayyed Rayyan Sayed Inayatullah, Mayank Bansal, Vikas Chahal, Sanjiv K. Gupta, Jaya Dixit, Vaibhav Sheel, Priya Rai Jalili syndrome (JS) (MIM#217080) is a rare genetic disorder characterized by the comorbid appearance of cone–rod dystrophy (CORD) and amelogenesis imperfecta (AI). JS is an autosomal recessive inherited disorder caused by different mutations, all with a linkage at achromatopsia locus 2 q11 on the metal tra...
Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology - October 10, 2015 Category: ENT & OMF Source Type: research
Novel retinopathy in related Gordon setters: a clinical, behavioral, electrophysiological, and genetic investigation
ConclusionsThis report describes a novel retinopathy in related Gordon setters that has clinical signs and vision testing results consistent with achromatopsia but electroretinographic results suggestive of cone‐rod dystrophy. The majority of Gordon setters in this study had low rod responses on electroretinography but it is unclear whether this was indicative of rod dysfunction or normal for the breed. Longer‐term observation of affected individuals is warranted. (Source: Veterinary Ophthalmology)
Source: Veterinary Ophthalmology - September 1, 2015 Category: Veterinary Research Authors: Kathryn L. Good, András M. Komáromy, Philip H. Kass, Ron Ofri Tags: Original Article Source Type: research
Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia
m W Hauswirth & Ron Ofri (Source: Molecular Therapy)
Source: Molecular Therapy - August 31, 2015 Category: Genetics & Stem Cells Authors: Eyal BaninElisha GootwineAlexey ObolenskyRaaya Ezra-EliaAyala EjzenbergLina ZelingerHen HonigAlexander RosovEsther YaminDror SharonEdward AverbukhWilliam W HauswirthRon Ofri Source Type: research
Achromatopsia: On the Doorstep of a Possible Therapy
Achromatopsia (ACHM) is a rare autosomal recessive inherited retinal disorder with an incidence of approximately 1 in 30,000. It presents at birth or early infancy and is typically characterized by reduced visual acuity, nystagmus, photophobia, and very poor or absent color vision. The symptoms arise from isolated cone dysfunction, which can be caused by mutations in the crucial components of the cone phototransduction cascade. Although ACHM is considered a functionally nonprogressive disease affecting only the cone system, recent studies have described progressive age-dependent changes in retinal architecture. Currently, ...
Source: Ophthalmic Research - August 22, 2015 Category: Opthalmology Source Type: research
