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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Neurology Resident and Fellow Section

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Figure Pedigrees of the SCA42 families identified in this study

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 Regional changes in FA values

Figure 1 Brain MRI findings in the present case

Figure 2 Needle biopsy of the left vastus lateralis

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 1 Hierarchical clustering (HCL) outcome of all tested samples with the expression profile of the case report set as unknown Hierarchical clustering.

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 Pedigree of the family

Figure 1 Quantitative spinal cord MRI maps and segmentations

Figure 2 Luciferase assays of transiently transfected HEK 293 cells with reporter constructs containing the 766-bp wild-type KCNJ18 or c.-542 T/A mutant.

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 2 Schematic displaying the 3 described CHT mutant proteins alongside wild type molecule (Adapted from reference 2, using Microsoft Powerpoint Software)‏

Figure 2 Linkage analysis of chromosome 19

Figure 2 Facial appearance and brain imaging

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 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 2 Functionally significant genes

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

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

Figure 2 The K19del mutation affects the expression and solubility of CHP1 The K19del mutation affects the expression and solubility of CHP1 (A) Western.

Figure 2 Imaging, histopathology, and molecular evaluation of case 3 with subtler MRI findings Imaging, histopathology, and molecular evaluation of case.

Figure 1 Pedigree and genetic findings

Figure 1 Histamine flare in patients and controls

Figure 4 Unspecific MRI findings and facial dysmorphy in patients with germline variants Unspecific MRI findings and facial dysmorphy in patients with.

Figure 1 MRI findings over time

Figure 3 Similar but restricted distributions of pathogenic variants in the P domain Similar but restricted distributions of pathogenic variants in the.

Figure 2 Brain MRI at 1 year of age

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

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 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 3 Genotype-phenotype correlation in SPG7 mutations and age at onset of symptoms Genotype-phenotype correlation in SPG7 mutations and age at onset.

Figure 2 Pathogenic deletions upstream of LMNB1

Figure. Pedigree of the family studied, photographs, and identification of a homozygous mutation in TBCK Pedigree of the family studied, photographs, and.

Figure 1 bvFTD PINBPA network

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

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

Gitanjali Das et al. Neurol Neuroimmunol Neuroinflamm 2018;5:e453

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

Figure FDG-PET, lymph node biopsy, and brain MRI

Figure 4 Patient 3 MRI evolution over time

Figure Pedigree, neuroimaging, and gene analysis

Figure 3 Patient 2 MRI evolution over time before relapse

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

Figure 2 Patient 1 MRI evolution over time

Figure 4 Western blotting

Presentation transcript:

Figure 1 Phenotype and genotype of an undiagnosed family with autosomal recessive spastic ataxia Phenotype and genotype of an undiagnosed family with autosomal recessive spastic ataxia (A) Pedigree of the family showing the segregation of the CHP1 p.K19del mutation (red M; “+” denotes the reference allele). (B) CHP1 next-generation sequencing reads show the homozygous NM_007236:c.52_54del: p.K19del variant for individuals IV-6 and IV-8. Sanger sequencing pherograms show homozygosity for the 3-bp deletion in both patients and heterozygosity in both parents; the unaffected sibling IV-7 shows the homozygous reference sequence. (C) Brain MRI of proband of individual IV-8 at 22 years of age. Sagittal (left panel) and coronal (middle panel) sections of T1-weighted images are shown. Hypoplasia of the posterior and nodular regions of the cerebellar vermis, but not of the hemispheres, is observed. An axial fluid-attenuated inversion recovery section (right panel) shows no evident white matter abnormalities. (D) Protein sequence alignment of CHP1 orthologs shows high conservation in the region including the K19del mutation (marked with asterisk). Gray indicates α-helical protein structure. Natalia Mendoza-Ferreira et al. Neurol Genet 2018;4:e209 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology