We are analyzing https://link.springer.com/article/10.1007/s00401-013-1232-4.

Title:
The neuropathology associated with repeat expansions in the C9ORF72 gene | Acta Neuropathologica
Description:
An abnormal expansion of a GGGGCC hexanucleotide repeat in a non-coding region of the chromosome 9 open reading frame 72 gene (C9ORF72) is the most common genetic abnormality in familial and sporadic FTLD and ALS and the cause in most families where both, FTLD and ALS, are inherited. Pathologically, C9ORF72 expansion cases show a combination of FTLD-TDP and classical ALS with abnormal accumulation of TDP-43 into neuronal and oligodendroglial inclusions consistently seen in the frontal and temporal cortex, hippocampus and pyramidal motor system. In addition, a highly specific feature in C9ORF72 expansion cases is the presence of ubiquitin and p62 positive, but TDP-43 negative neuronal cytoplasmic and intranuclear inclusions. These TDP-43 negative inclusions contain dipeptide-repeat (DPR) proteins generated by unconventional repeat-associated translation of C9ORF72 transcripts with the expanded repeats and are most abundant in the cerebellum, hippocampus and all neocortex regions. Another consistent pathological feature associated with the production of C9ORF72 transcripts with expanded repeats is the formation of nuclear RNA foci that are frequently observed in the frontal cortex, hippocampus and cerebellum. Here, we summarize the complexity and heterogeneity of the neuropathology associated with the C9ORF72 expansion. We discuss implications of the data to the current classification of FTLD and critically review current insights from clinico-pathological correlative studies regarding the fundamental questions as to what processes are required and sufficient to trigger neurodegeneration in C9ORF72 disease pathogenesis.
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Keywords {🔍}

pubmed, article, google, scholar, cas, corf, frontotemporal, repeat, acta, neuropathol, central, expansion, mackenzie, sclerosis, neumann, lateral, degeneration, tdp, amyotrophic, lobar, dois, dementia, neurol, hexanucleotide, inclusions, rna, disease, pathology, gene, pathological, brain, chromosome, clinical, neuropathology, expansions, ggggcc, expanded, neuron, features, dejesushernandez, research, neuronal, hippocampus, proteins, foci, access, doibrainawr, cairns, protein, privacy,

Topics {✒️}

month download article/chapter chromosome 9p21-linked als-ftd tar dna-binding protein ipsc-derived human neurons p62-positive/tdp43-negative inclusions clinico-pathological correlative studies aggregating dipeptide-repeat proteins chromosome 9p-linked ftd als/ftd c9orf72 expansion c9orf72-ftd/als pathogenesis neuronal cytoplasmic related subjects nuclear rna foci full article pdf tdp43-mediated neurodegeneration ubiquitin-positive inclusions visualized ubiquitin-positive inclusions delineated amyotrophic lateral sclerosis atg-initiated translation directed neurodegenerative diseases motor neurone disease dipeptide repeat proteins hsiung gy frequent neuronal sense intranuclear polyglutamine inclusions hexanucleotide repeat expansion article mackenzie c9orf72 hexanucleotide expansion ggggcc repeat expansion c9orf72 disease pathogenesis privacy choices/manage cookies ggggcc hexanucleotide repeat c9orf72 repeat expansion rna-mediated toxicity antisense rna foci c9orf72-linked ftld c9orf72 expansion cases pyramidal motor system c9orf72 ggggcc repeat toxic protein species highly specific feature van der zee motor neuron dysfunction p62 positive inclusions frontotemporal lobar degeneration check access van deerlin vm snowden js instant access expanded rna repeats

Questions {❓}

Lomen-Hoerth C, Murphy J, Langmore S, Kramer JH, Olney RK, Miller B (2003) Are amyotrophic lateral sclerosis patients cognitively normal?
Treusch S, Cyr DM, Lindquist S (2009) Amyloid deposits: protection against toxic protein species?
Van Blitterswijk M, DeJesus-Hernandez M, Rademakers R (2012) How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?

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         headline:The neuropathology associated with repeat expansions in the C9ORF72 gene
         description:An abnormal expansion of a GGGGCC hexanucleotide repeat in a non-coding region of the chromosome 9 open reading frame 72 gene (C9ORF72) is the most common genetic abnormality in familial and sporadic FTLD and ALS and the cause in most families where both, FTLD and ALS, are inherited. Pathologically, C9ORF72 expansion cases show a combination of FTLD-TDP and classical ALS with abnormal accumulation of TDP-43 into neuronal and oligodendroglial inclusions consistently seen in the frontal and temporal cortex, hippocampus and pyramidal motor system. In addition, a highly specific feature in C9ORF72 expansion cases is the presence of ubiquitin and p62 positive, but TDP-43 negative neuronal cytoplasmic and intranuclear inclusions. These TDP-43 negative inclusions contain dipeptide-repeat (DPR) proteins generated by unconventional repeat-associated translation of C9ORF72 transcripts with the expanded repeats and are most abundant in the cerebellum, hippocampus and all neocortex regions. Another consistent pathological feature associated with the production of C9ORF72 transcripts with expanded repeats is the formation of nuclear RNA foci that are frequently observed in the frontal cortex, hippocampus and cerebellum. Here, we summarize the complexity and heterogeneity of the neuropathology associated with the C9ORF72 expansion. We discuss implications of the data to the current classification of FTLD and critically review current insights from clinico-pathological correlative studies regarding the fundamental questions as to what processes are required and sufficient to trigger neurodegeneration in C9ORF72 disease pathogenesis.
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      description:An abnormal expansion of a GGGGCC hexanucleotide repeat in a non-coding region of the chromosome 9 open reading frame 72 gene (C9ORF72) is the most common genetic abnormality in familial and sporadic FTLD and ALS and the cause in most families where both, FTLD and ALS, are inherited. Pathologically, C9ORF72 expansion cases show a combination of FTLD-TDP and classical ALS with abnormal accumulation of TDP-43 into neuronal and oligodendroglial inclusions consistently seen in the frontal and temporal cortex, hippocampus and pyramidal motor system. In addition, a highly specific feature in C9ORF72 expansion cases is the presence of ubiquitin and p62 positive, but TDP-43 negative neuronal cytoplasmic and intranuclear inclusions. These TDP-43 negative inclusions contain dipeptide-repeat (DPR) proteins generated by unconventional repeat-associated translation of C9ORF72 transcripts with the expanded repeats and are most abundant in the cerebellum, hippocampus and all neocortex regions. Another consistent pathological feature associated with the production of C9ORF72 transcripts with expanded repeats is the formation of nuclear RNA foci that are frequently observed in the frontal cortex, hippocampus and cerebellum. Here, we summarize the complexity and heterogeneity of the neuropathology associated with the C9ORF72 expansion. We discuss implications of the data to the current classification of FTLD and critically review current insights from clinico-pathological correlative studies regarding the fundamental questions as to what processes are required and sufficient to trigger neurodegeneration in C9ORF72 disease pathogenesis.
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         Neuronal Intranuclear Inclusion
         Pathology
         Neurosciences
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