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Copyright © 2008 American Medical Association. All rights reserved. From: Molecular Pathogenesis of Frontotemporal Lobar DegenerationBasic Science Seminar in Neurology Arch Neurol. 2008;65(6):700-704. doi:10.1001/archneur.65.6.700 Figure Legend: Pathologic features of frontotemporal lobar degeneration with tau-negative neuronal intranuclear and cytoplasmic inclusions immunoreactive to ubiquitin. A, Severe cortical atrophy with narrowing of frontal lobe gyri in a typical patient. Ubiquitin immunostaining using a polyclonal antiubiquitin antibody (DAKO, Glostrup, Denmark) showed typical ubiquitin-immunoreactive neuronal intranuclear (B, arrow) and cytoplasmic (E, arrows) inclusions in the frontal cortical region of this patient. Note the typical “cat’s eye” intranuclear neuronal inclusion in B. Immunoreactivity with a polyclonal antibody against PGRN (progranulin) holoprotein (antihuman progranulin; R & D Systems, Minneapolis, Minnesota) showed PGRN immunostaining in neuronal perikaryon (C, arrows) but not in cellular inclusions. However, intense PGRN immunoreactivity was observed frequently in activated glial cells (C and F, arrowheads). Immunoreactivity with a monoclonal antibody against TDP-43 (clone 2E2-D3; Abnova, Taipei City, Taiwan) showed intense TDP-43 immunostaining in neurons, especially the nucleus (D and G, arrows), and intense immunoreactivity in neuronal and cytoplasmic inclusions (G, double-headed arrow and inset). In neurons with inclusions, the normal nuclear staining of TDP-43 seems reduced. For immunohistochemistry, sections were antigen retrieved by microwaving in citrate buffer (pH 6) and were stained using avidin-biotin complex–horseradish peroxidase and diamino benzidine (Roche, Nutley, New Jersey) as described previously.Scale bars represent 1 cm (A) and 20 μm (B-G). Date of download: 10/22/2017 Copyright © 2008 American Medical Association. All rights reserved.

Copyright © 2008 American Medical Association. All rights reserved. From: Molecular Pathogenesis of Frontotemporal Lobar DegenerationBasic Science Seminar in Neurology Arch Neurol. 2008;65(6):700-704. doi:10.1001/archneur.65.6.700 Figure Legend: From segregation analysis to disease-causing mutation. A, Segregation analysis of a 4-generation pedigree. Square represents male; circle, female; filled symbol, patient; diamond, number of unaffected relatives; and asterisk, individual for whom DNA was available. For each patient, haplotypes are shown in the region for which linkage was observed. For each genetic marker (listed to the left of the pedigree), both alleles are shown (coded by Arabic numerals). Markers in bold indicate the minimal shared haplotype. In patients for whom no DNA was available, haplotypes are reconstructed based on the genetic information of spouse and offspring (numbers in parentheses [? indicates that reconstruction of the haplotype was impossible]). Purple bar represents the haplotype that is shared by all patients. Green arrow denotes centromeric recombination; red arrow denotes telomeric recombination delineating the minimal shared region. PGRNis located in this region; N denotes normal allele, and D denotes disease allele. B, Assembly and annotation of the shared region on 17q21 (red bar in the upper panel) using public databases such as the University of California Santa Cruz (UCSC) genome browser (http://genome.ucsc.edu/) identifies known genes in the region (a small number of which are shown in the middle panel). FISH indicates fluorescence in situ hybridization. Mutation analysis through direct sequencing of the identified genes results in the detection of a C to T transition (denoted by Y in the DNA sequence shown in the lower panel) in a coding DNA sequence of PGRNin a patient but not in the control individual. Date of download: 10/22/2017 Copyright © 2008 American Medical Association. All rights reserved.