Figure 1 Representative radiologic and pathologic images of patients with brain somatic mutations in SLC35A2 Representative radiologic and pathologic images.

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Figure Pedigrees of the SCA42 families identified in this study

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Figure 1 Phenotype and genotype of an undiagnosed family with autosomal recessive spastic ataxia Phenotype and genotype of an undiagnosed family with autosomal.

Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)

Figure 1 Summary of prior diagnostic workup in neuromuscular disorder cases Summary of prior diagnostic workup in neuromuscular disorder cases Percentage.

Figure 3 Pedigree of familial idiopathic transverse myelitis

Figure 2 Medial occipital lobe (designated by visual cortical brain regions) hypometabolism in anti–NMDA receptor encephalitis Medial occipital lobe (designated.

Figure 1 Imaging, histopathology, and molecular evaluation of case 1 with definite leptomeningeal angiomatosis Imaging, histopathology, and molecular evaluation.

Figure 1 Regional changes in FA values

Figure 2 Needle biopsy of the left vastus lateralis

Figure 2 Spinal cord lesions

Figure 3 Immunohistochemical analyses of positive and negative Epstein-Barr virus (EBV) control tissues using immunostaining Immunohistochemical analyses.

Figure 1 Coronal MRI images showing the evolution of white matter abnormality and atrophy of patient 1 Coronal MRI images showing the evolution of white.

Figure Facial photograph during headache attack and brain and upper cervical cord MRI Facial photograph during headache attack and brain and upper cervical.

Figure Sural nerve electron microscopy

Figure 1 Spine MRI, sagittal and axial views of patients with idiopathic transverse myelitis with VPS37A mutations Spine MRI, sagittal and axial views.

Figure 3 Example of venous narrowing

Figure 2 Immunopathologic analysis of all 3 Rasmussen encephalitis cases Immunopathologic analysis of all 3 Rasmussen encephalitis cases (A) Perivascular.

Figure 1 Histopathologic features of a chronic active and a chronic plaque in the MS brain Histopathologic features of a chronic active and a chronic plaque.

Figure 4 Detection of EBER+ cells in MS and control brains by in situ hybridization Detection of EBER+ cells in MS and control brains by in situ hybridization.

Figure 1 Linear relationship between CSF inflammation and glucose in meningitis; analysis stratified by diagnostic category (aseptic, n = 115 and microbial,

Figure 1 Quantitative spinal cord MRI maps and segmentations

Figure 2 Correlation between total IgG levels and anti-AQP4 IgG titer

Figure 1 Dominant and recessive missense and nonsense variants in neurofilament light (NEFL)‏ Dominant and recessive missense and nonsense variants in.

Figure WDR45 sequence changes in patients A and B

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Figure 3 Temporal trends in FALS incidence

Table 4 Associations in SNP array data between the Braak stage and previously known AD risk loci (341 variants) comparing participants with Braak stage.

Figure 1 All patients with pediatric genetic movement disorders, their genetic diagnoses, and type of genetic investigations All patients with pediatric.

Figure 5 Neurite structure is not disrupted by the lack of neurofilament light (NEFL)‏ Neurite structure is not disrupted by the lack of neurofilament.

Figure MRI and neuropathologic characteristics of the tumefactive demyelinating lesion in our patient MRI and neuropathologic characteristics of the tumefactive.

Figure 3 Transport activity of human SLC25A4 and SLC25A4 p.Lys33Gln

Figure 2 Linkage analysis of chromosome 19

Figure 2 Facial appearance and brain imaging

Figure 1 White matter lesion central vein visibility in MS and absence in small vessel disease (SVD)‏ White matter lesion central vein visibility in MS.

Figure 2 Example of venous narrowing

Figure 1 MRI of inflammatory myelitis before and after treatment

Figure 1 Illustration of white matter– and lesion-associated regions of interest (ROIs)‏ Illustration of white matter– and lesion-associated regions of.

Figure 1 Family pedigree and MRI

Table 2 Rs number, gene, OR, 95% CI, and permutation p value for the statistical significant variants resulted from allelic association analysis association.

Figure 1 Family pedigree and DNA sequencing results

Figure 4 Voltage-clamp recordings of KCNJ18 carrying the patient's SNVs expressed in Xenopus laevis oocytes under control conditions and after application.

Figure 1 [18F]florbetapir standardized uptake value ratio analytical method [18F]florbetapir standardized uptake value ratio analytical method Flowchart.

Figure 2 Immunohistological detection of EBV latent and early lytic proteins in MS and control brains Immunohistological detection of EBV latent and early.

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Figure 1 Histamine flare in patients and controls

Figure 1 MRI findings over time

Figure 2 Longitudinal relationship between CSF glucose and protein changes Longitudinal relationship between CSF glucose and protein changes Delta glucose.

Figure 2 Global tau-PET distribution in familial prion disease mirrors the distribution seen in Alzheimer disease Global tau-PET distribution in familial.

Figure 1 Family pedigrees, clinical photographs, and multispecies alignment showing the effect of the 3 reported mutations Family pedigrees, clinical photographs,

Figure 2 Kaplan-Meier survival graphs for 10-year risks of overall and post-90-day recurrent ischemic stroke (IS) and death Kaplan-Meier survival graphs.

Figure 1 Stacked bar chart depicts the proportion of patients with diffusion-weighted imaging (DWI)+ and DWI− scans categorized by index event type TIA.

Figure 1 Annualized percentage brain volume change

Figure 2 Pathogenic deletions upstream of LMNB1

Figure 2 Brain biopsy of 2 patients with anti-MOG encephalitis initially misdiagnosed with small vessel CNS vasculitis Brain biopsy of 2 patients with.

Figure 3 Muscle biopsy showing myofiber atrophy and degeneration

Figure 1 bvFTD PINBPA network

Figure 2 Seizure outcomes

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Figure 3 C5B3 blocked MAC formation

Figure 3 Bilateral optic atrophy and sural nerve biopsy of patient AII-2 Bilateral optic atrophy and sural nerve biopsy of patient AII-2 (A) Red-free photographs.

Figure 3 Changing appearance of the frontal cortex with age associated with increasing myelination Changing appearance of the frontal cortex with age associated.

Figure 3 Within-group comparisons (before–after)‏

Figure Pedigree, neuroimaging, and gene analysis

Figure 1 Segmentation of the normal-appearing periependymal white matter Segmentation of the normal-appearing periependymal white matter The figure demonstrates.

Figure 5 C5B3 inhibited inflammatory infiltration in an NMOSD mouse model in vivo C5B3 inhibited inflammatory infiltration in an NMOSD mouse model in vivo.

Figure 4 Venn diagram for B-cell Sup proteins compared with proteins from exosome-enriched fractions from a human B-cell line Venn diagram for B-cell Sup.

Figure 1 Axial FLAIR brain MRI obtained on admission to the ICU demonstrated (A1) old hyperintense subcortical lesions (arrowhead), new superimposed on.

Presentation transcript:

Figure 1 Representative radiologic and pathologic images of patients with brain somatic mutations in SLC35A2 Representative radiologic and pathologic images of patients with brain somatic mutations in SLC35A2 (A) Preoperative and postoperative brain MRI T2-weighted images from patients EPI219 and LGS150 with brain somatic mutations in SLC25A2. These T2-weighted images demonstrate no remarkable findings in the brain parenchyma, including the temporal lobe. Yellow arrowhead: putative regions of epileptic focus. (B) Histopathologic images from H & E staining and immunohistochemical (IHC) staining from EPI219 (upper panels) and LGS150 (lower panels) brain tissues. Black arrowheads: scattered neuron in white matter. Scale bars, 40 μm in H & E staining and 200 μm in IHC staining for NeuN, a neuronal marker (C) Capture image from integrative genomic viewer (IGV) (upper panels), showing the results of site-specific amplicon sequencing. Schematic tables (lower panels) showing the number of sequence reads counted as mutated or reference sequences, as well as the VAFs of mutated alleles. Mut: mutation, Ref: reference. Nam Suk Sim et al. Neurol Genet 2018;4:e294 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.