Figure 2 Muscle pathology of patients 2, 26, 11, 9, 32, and 48

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Case Study 21 Craig Horbinski, M.D., Ph.D..

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Figure Pedigrees of the SCA42 families identified in this study

Figure 2 ERG amplitude reduction in the follow-up study

Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)

Resident and Fellow Section

Figure 1 Summary of prior diagnostic workup in neuromuscular disorder cases Summary of prior diagnostic workup in neuromuscular disorder cases Percentage.

Case Study 85 Leonidas Arvanitis

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 Perimysial and muscle fiber pathology in HMGCR antibody–associated myopathy (A) Perimysial pathology with histiocytic cells and widening (hematoxylin.

Figure 1 Muscle biopsy from a patient with a slowly progressive (24 years) HMGCR antibody–associated myopathy syndrome (A) Hematoxylin & eosin stain, (B)

Figure 2 Needle biopsy of the left vastus lateralis

Figure 2 Orbital MRI findings One-third of myelin oligodendrocyte glycoprotein antibody–positive patients revealed extensive enhancement patterns that.

Figure Vertebral artery angiogram and tissue pathology

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

Figure Case presentation

Figure 2 FXTAS Rating Scale scores for case 1

Figure 2. Ophthalmologic findings of bialleic AP5Z1 mutations

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

Figure 1 Tibialis anterior muscle biopsy of P1 (A) Increased fiber size variation, ring fibers, slight endomysial fibrosis, and prominent clear mainly.

Figure 2 Vastus lateralis biopsy of P2 (A) Vastus lateralis muscle cryostat section hematoxylin and eosin (H&E) staining shows basophilic subsarcolemmal.

Figure 2 Muscle histology and morphometric analysis demonstrating muscle fiber hypertrophy, occasional internalized nuclei and slight irregularity in the.

Figure 3 Electron microscopy images of brain autopsy case II-2

Figure 1 Neuropathologic examination of brain areas with normal MRI appearance and with gadolinium enhancement (patient 1)‏ Neuropathologic examination.

Figure 2. EZO levels in infants and young children compared to adults at similar doses EZO levels in infants and young children compared to adults at similar.

Figure 1 Genetic profile of 90 patients with dysferlin deficiency

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 2 Histopathologic findings of patients with both inflammatory myopathy and myasthenia gravis Histopathologic findings of patients with both inflammatory.

Figure 2 Linkage analysis of chromosome 19

Figure 2 JCV index JCV index (A) Fifty samples of natalizumab-treated patients with multiple sclerosis were assessed twice for their anti-JCV antibody.

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

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

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

Figure 2. Neuropathologic diagnosis of Creutzfeldt-Jakob disease (CJD) at postmortem Neuropathologic diagnosis of Creutzfeldt-Jakob disease (CJD) at postmortem.

Figure 3. Comparison of median manual muscle test scores in the upper and lower limbs Comparison of median manual muscle test scores in the upper and lower.

Figure 2 Abnormal myofiber nuclei in HMGCR antibody–associated myopathy Myonuclei are often enlarged (dark arrow) with clear centers (dark arrowhead) or.

Figure 1 Within-groups sum of squares vs number of clusters Within-groups sum of squares vs number of clusters to determine the number needed for k-means.

Figure 4 Voltage-clamp recordings of KCNJ18 carrying the patient's SNVs expressed in Xenopus laevis oocytes under control conditions and after application.

Figure 2 Increased mitochondrial sensitivity to glucose reduction in lymphoblastoid cells from patients with primary lateral sclerosis Increased mitochondrial.

Figure 2 Pathologic diagnosis of CAA-related vascular inflammation Hematoxylin & eosin staining (A) revealed focal intramural inflammation including lymphocytes,

Figure 1 JCV serostatus JCV serostatus (A) Serostatus of 1,921 natalizumab-treated patients with multiple sclerosis, with JCV− patients shown in black.

Figure 5 Pairwise correlations between selected patient-reported outcomes and performance tests in patients with MS (A) The number of pairwise correlations.

Figure 3 Longitudinal performance of 2 MS–cohabitant participant pairs on Ishihara color testing Both response speed and response accuracy are provided.

Figure 4. Electron microscopic findings in AP-5 patient cells

Figure 1 Annual trend in specimen type submitted as first sample for aquaporin-4 immunoglobulin G testing (serum only vs CSF only vs both) from 101,065.

Figure Novel compound heterozygous mutation in the COLQ gene causes congenital myasthenic syndrome Novel compound heterozygous mutation in the COLQ gene.

Figure 1 Kernel density plots

Figure 1 Pedigree and genetic findings

Figure 1 Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and patients with frontotemporal dementia Mutated CTSF in adult-onset neuronal ceroid.

Figure 1 Histamine flare in patients and controls

Figure 3 Pedigrees of 3 multiplex families with NLRP3 mutations and MS The patient numbers refer to the patients listed in table 1. Pedigrees of 3 multiplex.

Figure Clinical, radiologic, and histopathologic findings

Figure 2 Correlation between wGRS and age at onset The figure shows the correlation between weighted genetic risk score (wGRS) and age at onset in all.

Figure 2. Patient stratification by the reported duration of symptoms and disease severity at the time of assessment Patient stratification by the reported.

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

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

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

Figure 3 Muscle biopsy showing myofiber atrophy and degeneration

Figure Meta-analysis of 9 studies of patients with attention-deficit/hyperactivity disorder (ADHD) vs controls Meta-analysis of 9 studies of patients with.

Figure 1 bvFTD PINBPA network

Figure 3. Temporal trends in individual serum lipid fractions in ICH patients by APOE allele carrier status Temporal trends in individual serum lipid fractions.

Figure 2 Distribution of DEPDC5 variants in patients and controls

Figure 1. Pedigree and clinical picture of the patient

Figure 2 Compound heterozygous mutations in ADAM22

Figure 2 Striatal dopamine transporter binding with the SNCA A53E mutation Transaxial planes of [123I]FP-CIT SPECT on the striatal level are presented.

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

Figure 2 Interleukin-6 concentrations in the CSF In 2 mutation carriers (patient 1 in dark blue triangle and patient 5 in light blue triangle carrying.

Figure 4 Western blotting

Presentation transcript:

Figure 2 Muscle pathology of patients 2, 26, 11, 9, 32, and 48 Muscle pathology of patients 2, 26, 11, 9, 32, and 48 (A) Markedly increased lipid droplets in both number and size were observed in patient 2 with homozygous SLC25A20 mutations (oil red O). (B) Forty percent myofibers with centralized nuclei were found in patient 26 with compound heterozygous RYR1 mutations (hematoxylin and eosin). (C) Multiminicore pattern was observed in patient 11 with compound heterozygous SEPN1 mutations (nicotinamide adenine dinucleotide tetrazolium reductase). (D) Prominent nemaline rods were seen in patient 9 with heterozygous ACTA1 mutations (modified Gomori trichrome). (E) Nonspecific myopathic change except for internalized nuclei and mild fiber size variation was shown in patient 32 with compound heterozygous TCAP mutations (hematoxylin and eosin). (F) Similar to patient 9, typical intracytoplasmic nemaline rods were present in patient 48 with compound heterozygous NEB mutations (modified Gomori trichrome). Xia Tian et al. Neurol Genet 2015;1:e14 © 2015 American Academy of Neurology