9 research outputs found
Neuroimaging of patients.
<p>A. Sagittal T1w MRI in subject V1 age 21 demonstrating clear cerebellar atrophy. B. Sagittal T1w MRI in subject V2 at age 6. Sagittal T1w MRI in subject V2 age 16 shows clear atrophy of the cerebellum. C. Sagittal T1w MRI in subject V3 showing hypoplasia of posterior corpus callosum (white arrow).</p
SNP Zygosity data for chromosome 11 from affecteds V1, V2, V3, and V3's parents IV3 and IV4.
<p>Red lines correspond to homozygous SNPs and blue lines to heterozygous SNPs (the gap represents the centromere).</p
Genetic analysis of family with ataxia and cognitive impairment.
<p>A. Pedigree of family. B. Sanger sequencing of the mutation c. 1881C>A; p.C627X in normal, parents of V3 (IV3 and IV4) and affecteds, V1, V2, V3.</p
Abnormal dendritic morphology in β-III spectrin −/− mouse compared to wild type.
<p>A. Sagittal sections immunostained for MAP2 show irregular reactivity throughout prefrontal cortical layers and caudate putamen/striatum of 6-week-old β-III spectrin knockout (−/−) mice compared to wild type (+/+) but normal staining within hippocampus (N = 3 each genotype; Bar, 20 µm). B. Top, Representative images of pyramidal neurons in layer 2/3 prefrontal cortex from 8-week-old WT and β-III spectrin knockout mice filled with Alexa 568 (Bar, 20 µm). Bottom, Neuronal 3-D reconstruction over laid using NeuronStudio software. C. Quantification of basal dendrite morphological parameters measured from reconstructed images shows greater distal thinning of dendrites in cells from β-III spectrin knockout mice (open circles; N = 9) compared with WT cells (filled squares; N = 8). All data are mean ± SEM (* denotes significance between groups and # significance within a group.) D. High magnification image of single basal dendrite showing distal thinning in β-III spectrin knockout compared to WT but presence of normal spines (Bar, 5 µm). E. High magnification image of Golgi impregnated pyramidal neuron from prefrontal cortex of WT and β-III spectrin knockout mice (Bar, 10 µm).</p
Number of candidate variants per functional class.
<p>Number of candidate variants per functional class.</p
Absence of hypoplasia of posterior corpus callosum in β-III spectrin knockout mice.
<p>Sagittal sections from 8-week old WT (+/+) and knockout (−/−) animals stained with cresyl violet (A, Bar 200 µm) and anti-tau antibody (B, Bar 500 µm) with arrow pointing to posterior corpus callosum. C. Coronal sections immunostained for MBP (Bar 200 µm).</p
Regions of homozygosity in V1, V2, and V3.
<p>Regions of homozygosity in V1, V2, and V3.</p
β-III spectrin knockout mice display deficits in some object recognition tasks.
<p>Diagram of task and performance of WT (+/+) and β-III spectrin knockout mice (−/−) in the four object recognition tasks. Two-novel object recognition (A), four-novel object recognition (B), object-in-place (C) and object location task (D). All data are mean ± SEM (N = 6–9; * <i>P</i><0.05).</p
Clinical and neuropsychological assessments of family.
<p>Clinical and neuropsychological assessments of family.</p