Figure Cerebral MRI and molecular and enzymatic analysis

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Neurology Resident and Fellow Section

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Figure Pedigrees of the SCA42 families identified in this study

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 Family pedigree and clinical improvement with riboflavin treatment Family pedigree and clinical improvement with riboflavin treatment (A) The proband.

Figure 3 Pedigree of familial idiopathic transverse myelitis

Figure 1 Brain MRI findings in the present case

Figure 2 Needle biopsy of the left vastus lateralis

Figure 2 Spinal cord lesions

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 4 Mitochondrial respiration is affected in lymphoblastoid cell lines (LCLs) of ACO2 mutation carriers Mitochondrial respiration is affected in lymphoblastoid.

Figure Pedigree of the family

Figure 3 Transcripts of the splicing mutation (c

Figure 1 Quantitative spinal cord MRI maps and segmentations

Figure 2 T2-weighted and subtraction images

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

Figure 3 Temporal trends in FALS incidence

Figure 2 Specific brain MRI findings of 8 patients

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 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 3 Mutation carrier–derived lymphoblastoid cell lines (LCLs) show decreased aconitase 2 activity and mitochondrial respiration deficiency compared.

Figure 2 Example of venous narrowing

Figure 1 Mutations in SPG7 in a family with primary lateral sclerosis

Figure 1 MRI of inflammatory myelitis before and after treatment

Figure 1 Radiologic features of human myelin oligodendrocyte glycoprotein immunoglobulin G–positive patients with cranial nerve involvement Radiologic.

Figure Family tree with the HLA haplotyping of 6 members of the family

Figure 1 Family pedigree and MRI

Figure Genetic deletion and MRI changes with EHMT1 deletion

Figure 1 Family pedigree and DNA sequencing results

Figure 1 Patients with acute anti–NMDA receptor encephalitis have marked hypometabolism of the visual cortical brain region correlating with the medial.

Figure 1 Pedigree and genetic findings

Figure 1 Histamine flare in patients and controls

Figure 1 MRI findings over time

Figure 2 Brain MRI at 1 year of age

Figure 1 Considerations for concussed athletes leading to medical care or return to sport (RTS)‏ Considerations for concussed athletes leading to medical.

Figure 1 Brain MRI Brain MRI (A) Axial fluid-attenuated inversion-recovery images show perilesional edema in both cerebellar hemisphere and hypointense.

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

Figure 2 Identification of a heterozygous mutation in POLR3F, protein structure, and pedigree Identification of a heterozygous mutation in POLR3F, protein.

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.

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

Figure ND5 and MCARNE phenotype

Figure 4 CHCHD2 but not TOP1MT expression rescues molecular defects

Figure 1 Schematic representation of FOXG1 gene, protein domain structure, and positions of FOXG1 mutations Schematic representation of FOXG1 gene, protein.

Yian Gu et al. Neurol Neuroimmunol Neuroinflamm 2019;6:e521

Ingo Kleiter et al. Neurol Neuroimmunol Neuroinflamm 2018;5:e504

Figure 1 Schematic of the OPA3 gene and OPA3 protein isoform b

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Figure 2 Pedigrees of families and segregation analysis of variants c

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

Figure 1 MRIs (case 1)‏ MRIs (case 1) An enlarging T2 lesion in the cerebral white matter near the angular gyrus and a new lesion in the left middle cerebellar.

Figure Unique second neurofibromatosis type 1 (NF1) gene mutations in multiple café-au-lait macules (CALMs) from an individual with segmental NF1 Unique.

Figure 2 LMNB1 mRNA expression

Figure Pedigree, images, and mutation analysis of the neuroferritinopathy family Pedigree, images, and mutation analysis of the neuroferritinopathy family.

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 FDG-PET, lymph node biopsy, and brain MRI

Figure 4 Patient 3 MRI evolution over time

Figure Pedigree, neuroimaging, and gene analysis

Figure Results of duplication analysis and patient 11's chorein analysis and geographical distribution of VPS13A mutations Results of duplication analysis.

Figure 3 Patient 2 MRI evolution over time before relapse

Figure 2 Patient 1 MRI evolution over time

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

Figure (A and B) Effect of canakinumab in muscle strength measured in each patient as mean bilateral GF (A) and TMS (B) during the mean study period of.

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 Cerebral MRI and molecular and enzymatic analysis Cerebral MRI and molecular and enzymatic analysis Mild vermian cerebellar atrophy (A, axial FLAIR w.i.); bilateral dentate hyperintensities (white arrow in B, axial FLAIR w.i., and D, sagittal FLAIR w.i); and supratentorial white matter hyperintensities (white arrow in C, axial FLAIR w.i). (E) Pedigree showing segregation of the disease with mutation c.940+5G>C causing the in-frame skipping of exon 7 and with mutation c.2135C>T causing the p.(Pro712Leu) missense change (P712L). Analysis of reverse transcription PCR (RT-PCR) products of the patient skin fibroblasts (F): the c.940+5G>C mutation (SplicePort score reduction from 1.17 to 0.21) affects exon 7 splicing and results in an abnormal RT-PCR fragment of 980 bp (arrow), whereas only the normal product of 1,085 bp is seen for control fibroblasts. Sequence of RT-PCR products (G): skipping of exon 7 leading to an in-frame deletion of 35 amino acids (p.[Gly279_Glu313del]). (H) Sanger sequencing results of parents and patients: Both patients are compound heterozygous for the mutations c.940+5G>C and p.(Pro712Leu), the mother (I.1) is a heterozygous carrier for the c.940+5G>C mutation, and the father (I.2) is a heterozygous carrier for the p.(Pro712Leu) mutation. (I) Mitochondrial aconitase activity is measured for 10 minutes (citrate injection), followed by isocitrate dehydrogenase activity for 2 minutes (isocitrate injection) through NADPH production in fibroblasts. Patient II.4 aconitase activity (red line) is reduced to about 50% of controls (black line), whereas isocitrate dehydrogenase activity, used for normalization, is similar to controls. (J): Predicted location of mutations on the ACO2 enzyme and substrate and cofactor binding sites. Stripe box: mitochondrial targeting signal; *Substrate binding sites; ©Iron-sulfur binding sites; highlighted mutations: present report; boxed (dotted) mutations: optic atrophy 9 (OPA9) phenotype; underlined mutations: infantile cerebellar-retinal degeneration phenotype (ICRD). FLAIR = fluid-attenuated inversion recovery. Cecilia Marelli et al. Neurol Genet 2018;4:e225 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology