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Figure Pedigree, neuroimaging, and gene analysis

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Presentation on theme: "Figure Pedigree, neuroimaging, and gene analysis"— Presentation transcript:

1 Figure Pedigree, neuroimaging, and gene analysis
Pedigree, neuroimaging, and gene analysis (A) Family pedigree. (B) Upper. MRI showing atrophy of the cerebellar hemispheres. Lower. N-isopropyl-p-(iodine-123)-iodoamphetamine SPECT showing hypoperfusion in the brainstem and cerebellar hemispheres. (C) Analysis of PCR-amplified products containing CAG repeats in ATXN2. Plus (+) and minus (−) indicate positive and negative controls, respectively. Pt indicates sample from the present index case. (D) DNA sequence analysis of CAG repeats in ATXN2 of the present index case. Arrowheads indicate continuation. Chromatograms in both directions are shown. That in the upper portion is sequence analysis in the 3′ > 5′ direction, while that in the lower portion is the opposite, demonstrating homozygous (CAG)13CAA(CAG)8CAA(CAG)8. ALS = amyotrophic lateral sclerosis. Maya Tojima et al. Neurol Genet 2018;4:e283 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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Figure Pedigrees of the SCA42 families identified in this study

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 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 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 1 Summary of prior diagnostic workup in neuromuscular disorder cases Summary of prior diagnostic workup in neuromuscular disorder cases Percentage.
Figure Family pedigree and clinical improvement with riboflavin treatment Family pedigree and clinical improvement with riboflavin treatment (A) The proband.

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 3 Pedigree of familial idiopathic transverse myelitis
Figure 1 Box plot of the venous diameter in lesions

Figure 1 Box plot of the venous diameter in lesions
Figure 2 Needle biopsy of the left vastus lateralis

Figure 2 Needle biopsy of the left vastus lateralis
Figure 2 Flow chart of patients who met the inclusion/exclusion criteria for the study Flow chart of patients who met the inclusion/exclusion criteria.

Figure 2 Flow chart of patients who met the inclusion/exclusion criteria for the study Flow chart of patients who met the inclusion/exclusion criteria.
Figure Neuroimaging and pathology

Figure Neuroimaging and pathology
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 Coronal MRI images showing the evolution of white matter abnormality and atrophy of patient 1 Coronal MRI images showing the evolution of white.
Figure 2 Disease progression slowed during each round of Treg infusions and correlated with increased Treg suppressive function Disease progression slowed.

Figure 2 Disease progression slowed during each round of Treg infusions and correlated with increased Treg suppressive function Disease progression slowed.
Figure 1 Hierarchical clustering (HCL) outcome of all tested samples with the expression profile of the case report set as unknown Hierarchical clustering.

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 Facial photograph during headache attack and brain and upper cervical cord MRI Facial photograph during headache attack and brain and upper cervical.
Figure 1 Treg percentage and suppressive function increased during each round of Treg infusions Treg percentage and suppressive function increased during.

Figure 1 Treg percentage and suppressive function increased during each round of Treg infusions Treg percentage and suppressive function increased during.
Figure 1 Spine MRI, sagittal and axial views of patients with idiopathic transverse myelitis with VPS37A mutations Spine MRI, sagittal and axial views.

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

Figure Pedigree of the family
Figure 3 Transcripts of the splicing mutation (c

Figure 3 Transcripts of the splicing mutation (c
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 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 Correlation between total IgG levels and anti-AQP4 IgG titer

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

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