Figure Genetic deletion and MRI changes with EHMT1 deletion

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Neurology Resident and Fellow Section

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Nat. Rev. Neurol. doi: /nrneurol

Neurology Resident and Fellow Section

Silent Brain Infarcts by Yi-Cheng Zhu, Carole Dufouil, Christophe Tzourio, and Hugues Chabriat Stroke Volume 42(4): March 28, 2011 Copyright ©

Figure 1 Initial brain imaging (A–C) patient 1; (D–F) patient 2; (G–I) patient 3; (J–L) patient 4; and (M) patient 2. Initial brain imaging (A–C) patient.

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

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How I treat and manage strokes in sickle cell disease

Figure 3 Brain MRI findings in patients with MOG-Ab Extensive brain lesions with large diameter (A and B), posterior reversible encephalopathy–like lesions.

Figure 4 Neuromyelitis optica spectrum disorder brain lesions

Figure 1 Brain MRI findings in the present case

Figure 4. Brain imaging and neuropathologic demonstration of Epstein-Barr virus (EBV) encephalitis in patient PT-10 Brain imaging and neuropathologic demonstration.

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Figure 2 Evolution of MRI abnormalities in faciobrachial dystonic seizures Axial fluid- attenuated inversion recovery (FLAIR)-weighted images from patient.

Figure 2 Association of serum IgG reactivity with MRI measures of disease severity Association of serum IgG reactivity with MRI measures of disease severity.

Figure 2 Spinal cord lesions

Figure Cerebral MRI and molecular and enzymatic analysis

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 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 Case presentation

Figure 1. MRI features of AP5Z1-associated complicated spastic paraplegia MRI features of AP5Z1-associated complicated spastic paraplegia (A) Periventricular.

Typical manifestation of white matter change on MRI fluid-attenuated inversion recovery imaging in a 37-year-old female patient with chronic migraine.

Figure Patient 1's ictal EEG and brain MRI and patient 2's ictal EEG and polygraphic recording(A) Patient 1's EEG showing an ictal discharge over right.

Figure 1 MRI head in faciobrachial dystonic seizures (A) Axial fluid-attenuated inversion recovery image from patient 3 in table 2 shows T2-weighted hyperintensity.

Figure Radiographic and histopathologic findings (A) Brain MRI at presentation shows multiple areas of T2 hyperintensity in the mesial temporal lobes,

Figure 1. Prebiopsy and postbiopsy MRI

Figure Longitudinal MRI study data demonstrating evolution of central pontine myelinolysis(A, B) Axial T2-weighted MRI of the brain from January 9, 2014,

Figure 1 MRI, pathology, and EEG findings(A) Axial fluid-attenuated inversion recovery (FLAIR) MRI sequences of the brain showing right frontal and parietal.

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Figure 2 Exemplary MRI of a patient with contrast enhancement on postcontrast FLAIR MRI of a 54-year-old patient with viral meningitis caused by varicella-zoster.

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Figure 3. Brain imaging and neuropathologic studies in patient PT-5 diagnosed with progressive multifocal leukoencephalopathy Brain imaging and neuropathologic.

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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 Brain MRI features in patients with deletions upstream of LMNB1 Brain MRI features in patients with deletions upstream of LMNB1 All images are.

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Figure Neurologic, gastrointestinal, and dermatologic findings

Figure Spinal cord imaging (A, B) Sagittal and axial T2-weighted cervical spine MRI demonstrating hyperintensities in the central gray matter of patient.

Figure Serial brain MRI of the patient with encephalitis and spontaneous recovery accompanying IgLON5 autoimmunity Serial brain MRI of the patient with.

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. . MR scan of brain (1.5 Tesla), patient aged 30 years. (A) Axial T2-weighted sequences at midbrain level show disproportionate volume loss and signal.

Figure A 57-year-old man with relapsing-remitting MS (RRMS) and new-onset ataxia A 57-year-old man with relapsing-remitting MS (RRMS) and new-onset ataxia.

Figure 4 Patient 3 MRI evolution over time

Figure 3 Patient 2 MRI evolution over time before relapse

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Figure 1 MRI of both patients with IgG4-HP and spinal cord arteriography of the first patient MRI of both patients with IgG4-HP and spinal cord arteriography.

MR images of the brain (axial sections, fluid-attenuated reversion recovery sequences) show the symmetric hyperintensities (arrows) involving the pyramidal.

Figure 1 MRI at presentation The axial diffusion-weighted image (A) showed restricted diffusion throughout the cortical ribbon of the right hemisphere.

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

MR scans of brain and spine: (A) sagittal T2 image showing signal change in the posterior spinal cord between C3 and T6. MR scans of brain and spine: (A)

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Figure 1 MRIs MRIs (A and B) Axial FLAIR images of the brain demonstrate multifocal parenchymal lesions including the right hippocampus, right midbrain,

Presentation transcript:

Figure Genetic deletion and MRI changes with EHMT1 deletion Genetic deletion and MRI changes with EHMT1 deletion (A) EHMT1 gene is represented (top) with its numbered exon regions (merged into Hg19 assembly). The EHMT1 protein includes 3 important functional domains: (1) ankyrin domain, (2) pre-SET domain, and (3) SET domain. Previously published deletions restricted to the functional domains are identified. (B–I) MRI of the brain of the patient described in this study. (B–D) Axial MRI fluid-attenuated inversion recovery images of the brain with arrows pointing toward anomalies noted at 2 years of age. (E) Coronal T2 image of the brain also showing anomalous white matter signal. (F–I) Similar sequences on MRI at 6 years of age showed marked reduction of the hyperintense T2 signal in the region of the white matter anomalies previously seen at 2 years of age. Xu He et al. Neurol Genet 2016;2:e58 © 2016 American Academy of Neurology