No abstract

DMJD patients have biallelic mutations in PCDH12 and lack of protein expression. These patients present with characteristic microcephaly and abnormalities of white matter tracts. Such pathogenic variants predict a poor outcome as a result of brainstem malformation and evidence of white matter tract defects, and should be added to the phenotypic spectrum associated with PCDH12-related conditions. Ann Neurol 2018;84:646-655.

Visual sensitivity is markedly reduced during an eye movement. Peri-saccadic vision is also characterized by a mislocalization of the briefly presented stimulus closer to the saccadic target. These features are commonly viewed as obligatory elements of perisaccadic vision. However, practice improves performance in many perceptual tasks performed at threshold conditions. We wondered if this could also be the case with peri-saccadic perception. To test this, we used a paradigm in which subjects reported the orientation (or location) of an ellipse briefly presented during a saccade. Practice on peri-saccadic orientation discrimination led to long-lasting gains in that task but did not alter the classical mislocalization of the visual stimulus. Shape discrimination gains were largely generalized to other untrained conditions when the same stimuli were used (discrimination during a saccade in the opposite direction or at a different stimulus location than previously trained). However, performance dropped to baseline level when participants shifted to a novel Vernier discrimination task under identical saccade conditions. Furthermore, practice on the location task did not induce better stimulus localization or discrimination. These results suggest that the limited visual information available during a saccade may be better used with practice, possibly by focusing attention on the specific target features or a better readout of the available information. Saccadic mislocalization, by contrast, is robust and resistant to top-down modulations, suggesting that it involves an automatic process triggered by the upcoming execution of a saccade (e.g., an efference copy signal).perceptual learning | saccades | saccadic suppression | saccadic mislocalization | vision

Regions in the occipitotemporal cortex (OTC) show clear selectivity to static images of human body parts, and upper limbs in particular, with respect to other object categories. Such selectivity was previously attributed to shape aspects, which presumably vary across categories. Alternatively, it has been proposed that functional selectivity for upper limbs is driven by processing of their distinctive motion features. In the present study we show that selectivity to static upper-limb images and motion processing go hand in hand. Using resting-state and task-based functional MRI, we demonstrate that OTC voxels showing greater preference to static images of arms and hands also show stronger functional connectivity with motion coding regions within the human middle temporal complex (hMTϩ), but not with shape-selective midtier areas, such as hV4 or LO-1, suggesting a tight link between upper-limb selectivity and motion processing. To test this directly, we created a set of natural arm-movement videos where kinematic patterns were parametrically manipulated, while keeping shape information constant. Using multivariate pattern analysis, we show that the degree of (dis)similarity in arm-velocity profiles across the video set predicts, to a significant extent, the degree of (dis)similarity in multivoxel activation patterns in both upper-limb-selective OTC regions and the hMTϩ. Together, these results suggest that the functional specificity of upper-limb-selective regions may be partially determined by their involvement in the processing of upper-limb dynamics. We propose that the selectivity to static upper-limb images in the OTC may be a result of experience-dependent association between shape elements, which characterize upper limbs, and upper-limb-specific motion patterns.