Perceptual face processing in developmental prosopagnosia is not sensitive to the canonical location of face parts

Individuals with developmental prosopagnosia (DP) are strongly impaired in recognizing faces, but it is controversial whether this deficit is linked to atypical visual-perceptual face processing mechanisms. Previous behavioural studies have suggested that face perception in DP might be less sensitive to the canonical spatial configuration of face parts in upright faces. To test this prediction, we recorded event-related brain potentials (ERPs) to intact upright faces and to faces with spatially scrambled parts (eyes, nose, and mouth) in a group of ten participants with DP and a group of ten age-matched control participants with normal face recognition abilities. The face-sensitive N170 component and the vertex positive potential (VPP) were both enhanced and delayed for scrambled as compared to intact faces in the control group. In contrast, N170 and VPP amplitude enhancements to scrambled faces were absent in the DP group. For control participants, the N170 to scrambled faces was also sensitive to feature locations, with larger and delayed N170 components contralateral to the side where all features appeared in a non-canonical position. No such differences were present in the DP group. These findings suggest that spatial templates of the prototypical feature locations within an upright face are selectively impaired in DP

Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.

Funder: All funders per study are acknowledged in the Supplementary FileA new avenue of mining published genome-wide association studies includes the joint analysis of related traits. The power of this approach depends on the genetic correlation of traits, which reflects the number of pleiotropic loci, i.e. genetic loci influencing multiple traits. Here, we applied new meta-analyses of optic nerve head (ONH) related traits implicated in primary open-angle glaucoma (POAG); intraocular pressure and central corneal thickness using Haplotype reference consortium imputations. We performed a multi-trait analysis of ONH parameters cup area, disc area and vertical cup-disc ratio. We uncover new variants; rs11158547 in PPP1R36-PLEKHG3 and rs1028727 near SERPINE3 at genome-wide significance that replicate in independent Asian cohorts imputed to 1000 Genomes. At this point, validation of these variants in POAG cohorts is hampered by the high degree of heterogeneity. Our results show that multi-trait analysis is a valid approach to identify novel pleiotropic variants for ONH

Multi-trait genome-wide association study identifies new loci associated with optic disc parameters

A new avenue of mining published genome-wide association studies includes the joint analysis of related traits. The power of this approach depends on the genetic correlation of traits, which reflects the number of pleiotropic loci, i.e. genetic loci influencing multiple traits. Here, we applied new meta-analyses of optic nerve head (ONH) related traits implicated in primary open-angle glaucoma (POAG); intraocular pressure and central corneal thickness using Haplotype reference consortium imputations. We performed a multi-trait analysis of ONH parameters cup area, disc area and vertical cup-disc ratio. We uncover new variants; rs11158547 in PPP1R36-PLEKHG3 and rs1028727 near SERPINE3 at genome-wide significance that replicate in independent Asian cohorts imputed to 1000 Genomes. At this point, validation of these variants in POAG cohorts is hampered by the high degree of heterogeneity. Our results show that multi-trait analysis is a valid approach to identify novel pleiotropic variants for ONH

The pathogenesis of cystinosis: mechanisms beyond cystine accumulation.

Contains fulltext : 87778.pdf (publisher's version ) (Closed access)Renal proximal tubules are highly sensitive to ischemic and toxic insults and are affected in diverse genetic disorders, of which nephropathic cystinosis is the most common. The disease is caused by mutations in the CTNS gene, encoding the lysosomal cystine transporter cystinosin, and is characterized by accumulation of cystine in the lysosomes throughout the body. In the majority of the patients, this leads to generalized proximal tubular dysfunction (also called DeToni-Debre-Fanconi syndrome) in the first year and progressive renal failure during the first decade. Extrarenal organs are affected by cystinosis as well, with clinical symptoms manifesting mostly after 10 yr of age. The cystine-depleting agent cysteamine significantly improves life expectancy of patients with cystinosis, but offers no cure, pointing to the complexity of the disease mechanism. In this review, current knowledge on the pathogenesis of cystinosis is described and placed in perspective of future research.1 november 201

Damasio's error - Prosopagnosia with intact within-category object recognition

The sudden inability to recognize individual faces following brain damage was first reported in a scientific journal 150 years ago and termed 'prosopagnosia' 70 years ago. While the term originally identified a face-selective neurological condition, it is now obscured by a sequence of imprecisions. First, prosopagnosia is routinely used to define symptoms of individual face recognition (IFR) difficulties in the context of visual object agnosia or other neurological conditions, or even in the normal population. Second, this over-expansive definition has lent support to a long-standing within-category recognition account of prosopagnosia, that is, that the impairment of IFR reflects a general impairment in recognizing within-category objects. However, stringent experimental studies of classical cases of prosopagnosia following brain damage show that their core impairment is not in recognizing physically similar exemplars within non-face object categories. Instead, the impairment presents specifically for recognizing exemplars of the category of faces. Moreover, compared to typical observers, the impairment appears even more severe for recognizing individual faces against physically dissimilar than similar distractors. Here, I argue that we need to limit accordingly our definition of prosopagnosia to a clinical (i.e., neurological) condition in which there is no basic-level object recognition impairment. Other criteria for prosopagnosia are proposed, with the hope that this conservative definition enables the study of human IFR processes in isolation, and supports progress in understanding the nature of these processes