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Figure Pedigree of the family

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1 Figure Pedigree of the family
Pedigree of the family “−” indicates the presence of VPS13A p.(Thr186_Leu232del). “+” indicates no deletion. Individuals without genotypes shown were not available for analysis. Black shapes indicate individuals affected with the primary disorder, and gray shapes indicate individuals affected with the second, separate phenotype. Individual V:7 died at the age of 10 years before the typical age at onset; thus, the affection status could not be determined. Numbers inside circles indicate more than 1 individual in the family. The index case is denoted by an arrow. Susan Walker et al. Neurol Genet 2018;4:e242 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 Spinal cord lesions

Figure 2 Spinal cord lesions
Figure 3 Immunohistochemical analyses of positive and negative Epstein-Barr virus (EBV) control tissues using immunostaining Immunohistochemical analyses.

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

Figure Sural nerve electron microscopy
Figure 2 Anti-LINGO-1 (Li81) does not affect cytokine production

Figure 2 Anti-LINGO-1 (Li81) does not affect cytokine production
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 1 Comparison of miR-150-5p (log scale), prednisone dose (mg), and QMG score between the thymectomy (ETTX) and prednisone groups Comparison of miR-150-5p.

Figure 1 Comparison of miR-150-5p (log scale), prednisone dose (mg), and QMG score between the thymectomy (ETTX) and prednisone groups Comparison of miR-150-5p.
Figure 2 Neurochemical profiles for each neurocognitive trajectory

Figure 2 Neurochemical profiles for each neurocognitive trajectory
Figure 1 Quantitative spinal cord MRI maps and segmentations

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 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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