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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The Spectrum of Mutations in Progranulin</title><author><name sortKey="Yu, Chang En" sort="Yu, Chang En" uniqKey="Yu C" first="Chang-En" last="Yu">Chang-En Yu</name></author><author><name sortKey="Bird, Thomas D" sort="Bird, Thomas D" uniqKey="Bird T" first="Thomas D." last="Bird">Thomas D. Bird</name></author><author><name sortKey="Bekris, Lynn M" sort="Bekris, Lynn M" uniqKey="Bekris L" first="Lynn M." last="Bekris">Lynn M. Bekris</name></author><author><name sortKey="Montine, Thomas J" sort="Montine, Thomas J" uniqKey="Montine T" first="Thomas J." last="Montine">Thomas J. Montine</name></author><author><name sortKey="Leverenz, James B" sort="Leverenz, James B" uniqKey="Leverenz J" first="James B." last="Leverenz">James B. Leverenz</name></author><author><name sortKey="Steinbart, Ellen" sort="Steinbart, Ellen" uniqKey="Steinbart E" first="Ellen" last="Steinbart">Ellen Steinbart</name></author><author><name sortKey="Galloway, Nichole M" sort="Galloway, Nichole M" uniqKey="Galloway N" first="Nichole M." last="Galloway">Nichole M. Galloway</name></author><author><name sortKey="Feldman, Howard" sort="Feldman, Howard" uniqKey="Feldman H" first="Howard" last="Feldman">Howard Feldman</name></author><author><name sortKey="Woltjer, Randall" sort="Woltjer, Randall" uniqKey="Woltjer R" first="Randall" last="Woltjer">Randall Woltjer</name></author><author><name sortKey="Miller, Carol A" sort="Miller, Carol A" uniqKey="Miller C" first="Carol A." last="Miller">Carol A. Miller</name></author><author><name sortKey="Wood, Elisabeth Mccarty" sort="Wood, Elisabeth Mccarty" uniqKey="Wood E" first="Elisabeth Mccarty" last="Wood">Elisabeth Mccarty Wood</name></author><author><name sortKey="Grossman, Murray" sort="Grossman, Murray" uniqKey="Grossman M" first="Murray" last="Grossman">Murray Grossman</name></author><author><name sortKey="Mccluskey, Leo" sort="Mccluskey, Leo" uniqKey="Mccluskey L" first="Leo" last="Mccluskey">Leo Mccluskey</name></author><author><name sortKey="Clark, Christopher M" sort="Clark, Christopher M" uniqKey="Clark C" first="Christopher M." last="Clark">Christopher M. Clark</name></author><author><name sortKey="Neumann, Manuela" sort="Neumann, Manuela" uniqKey="Neumann M" first="Manuela" last="Neumann">Manuela Neumann</name></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></author><author><name sortKey="Galasko, Douglas R" sort="Galasko, Douglas R" uniqKey="Galasko D" first="Douglas R." last="Galasko">Douglas R. Galasko</name></author><author><name sortKey="Arnold, Steven E" sort="Arnold, Steven E" uniqKey="Arnold S" first="Steven E." last="Arnold">Steven E. Arnold</name></author><author><name sortKey="Chen Plotkin, Alice" sort="Chen Plotkin, Alice" uniqKey="Chen Plotkin A" first="Alice" last="Chen-Plotkin">Alice Chen-Plotkin</name></author><author><name sortKey="Karydas, Anna" sort="Karydas, Anna" uniqKey="Karydas A" first="Anna" last="Karydas">Anna Karydas</name></author><author><name sortKey="Miller, Bruce L" sort="Miller, Bruce L" uniqKey="Miller B" first="Bruce L." last="Miller">Bruce L. Miller</name></author><author><name sortKey="Trojanowski, John Q" sort="Trojanowski, John Q" uniqKey="Trojanowski J" first="John Q." last="Trojanowski">John Q. Trojanowski</name></author><author><name sortKey="Lee, Virginia M Y" sort="Lee, Virginia M Y" uniqKey="Lee V" first="Virginia M.-Y." last="Lee">Virginia M.-Y. Lee</name></author><author><name sortKey="Schellenberg, Gerard D" sort="Schellenberg, Gerard D" uniqKey="Schellenberg G" first="Gerard D." last="Schellenberg">Gerard D. Schellenberg</name></author><author><name sortKey="Van Deerlin, Vivianna M" sort="Van Deerlin, Vivianna M" uniqKey="Van Deerlin V" first="Vivianna M." last="Van Deerlin">Vivianna M. Van Deerlin</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">20142524</idno><idno type="pmc">2901991</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2901991</idno><idno type="RBID">PMC:2901991</idno><idno type="doi">10.1001/archneurol.2009.328</idno><date when="2010">2010</date><idno type="wicri:Area/Pmc/Corpus">000398</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000398</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The Spectrum of Mutations in Progranulin</title><author><name sortKey="Yu, Chang En" sort="Yu, Chang En" uniqKey="Yu C" first="Chang-En" last="Yu">Chang-En Yu</name></author><author><name sortKey="Bird, Thomas D" sort="Bird, Thomas D" uniqKey="Bird T" first="Thomas D." last="Bird">Thomas D. Bird</name></author><author><name sortKey="Bekris, Lynn M" sort="Bekris, Lynn M" uniqKey="Bekris L" first="Lynn M." last="Bekris">Lynn M. Bekris</name></author><author><name sortKey="Montine, Thomas J" sort="Montine, Thomas J" uniqKey="Montine T" first="Thomas J." last="Montine">Thomas J. Montine</name></author><author><name sortKey="Leverenz, James B" sort="Leverenz, James B" uniqKey="Leverenz J" first="James B." last="Leverenz">James B. Leverenz</name></author><author><name sortKey="Steinbart, Ellen" sort="Steinbart, Ellen" uniqKey="Steinbart E" first="Ellen" last="Steinbart">Ellen Steinbart</name></author><author><name sortKey="Galloway, Nichole M" sort="Galloway, Nichole M" uniqKey="Galloway N" first="Nichole M." last="Galloway">Nichole M. Galloway</name></author><author><name sortKey="Feldman, Howard" sort="Feldman, Howard" uniqKey="Feldman H" first="Howard" last="Feldman">Howard Feldman</name></author><author><name sortKey="Woltjer, Randall" sort="Woltjer, Randall" uniqKey="Woltjer R" first="Randall" last="Woltjer">Randall Woltjer</name></author><author><name sortKey="Miller, Carol A" sort="Miller, Carol A" uniqKey="Miller C" first="Carol A." last="Miller">Carol A. Miller</name></author><author><name sortKey="Wood, Elisabeth Mccarty" sort="Wood, Elisabeth Mccarty" uniqKey="Wood E" first="Elisabeth Mccarty" last="Wood">Elisabeth Mccarty Wood</name></author><author><name sortKey="Grossman, Murray" sort="Grossman, Murray" uniqKey="Grossman M" first="Murray" last="Grossman">Murray Grossman</name></author><author><name sortKey="Mccluskey, Leo" sort="Mccluskey, Leo" uniqKey="Mccluskey L" first="Leo" last="Mccluskey">Leo Mccluskey</name></author><author><name sortKey="Clark, Christopher M" sort="Clark, Christopher M" uniqKey="Clark C" first="Christopher M." last="Clark">Christopher M. Clark</name></author><author><name sortKey="Neumann, Manuela" sort="Neumann, Manuela" uniqKey="Neumann M" first="Manuela" last="Neumann">Manuela Neumann</name></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></author><author><name sortKey="Galasko, Douglas R" sort="Galasko, Douglas R" uniqKey="Galasko D" first="Douglas R." last="Galasko">Douglas R. Galasko</name></author><author><name sortKey="Arnold, Steven E" sort="Arnold, Steven E" uniqKey="Arnold S" first="Steven E." last="Arnold">Steven E. Arnold</name></author><author><name sortKey="Chen Plotkin, Alice" sort="Chen Plotkin, Alice" uniqKey="Chen Plotkin A" first="Alice" last="Chen-Plotkin">Alice Chen-Plotkin</name></author><author><name sortKey="Karydas, Anna" sort="Karydas, Anna" uniqKey="Karydas A" first="Anna" last="Karydas">Anna Karydas</name></author><author><name sortKey="Miller, Bruce L" sort="Miller, Bruce L" uniqKey="Miller B" first="Bruce L." last="Miller">Bruce L. Miller</name></author><author><name sortKey="Trojanowski, John Q" sort="Trojanowski, John Q" uniqKey="Trojanowski J" first="John Q." last="Trojanowski">John Q. Trojanowski</name></author><author><name sortKey="Lee, Virginia M Y" sort="Lee, Virginia M Y" uniqKey="Lee V" first="Virginia M.-Y." last="Lee">Virginia M.-Y. Lee</name></author><author><name sortKey="Schellenberg, Gerard D" sort="Schellenberg, Gerard D" uniqKey="Schellenberg G" first="Gerard D." last="Schellenberg">Gerard D. Schellenberg</name></author><author><name sortKey="Van Deerlin, Vivianna M" sort="Van Deerlin, Vivianna M" uniqKey="Van Deerlin V" first="Vivianna M." last="Van Deerlin">Vivianna M. Van Deerlin</name></author></analytic><series><title level="j">Archives of neurology</title><idno type="ISSN">0003-9942</idno><idno type="eISSN">1538-3687</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title><p id="P3">Mutation in the progranulin gene (<italic>GRN</italic>) can cause frontotemporal dementia (FTD). However, it is unclear whether some rare FTD-related <italic>GRN</italic> variants are pathogenic and whether neurodegenerative disorders other than FTD can also be caused by <italic>GRN</italic> mutations.</p></sec><sec id="S2"><title>Objectives</title><p id="P4">To delineate the range of clinical presentations associated with <italic>GRN</italic> mutations and to define pathogenic candidacy of rare <italic>GRN</italic> variants.</p></sec><sec id="S3"><title>Design</title><p id="P5">Case-control study.</p></sec><sec id="S4"><title>Setting</title><p id="P6">Clinical and neuropathology dementia research studies at 8 academic centers.</p></sec><sec id="S5"><title>Participants</title><p id="P7">Four hundred thirty-four patients with FTD, including primary progressive aphasia, semantic dementia, FTD/amyotrophic lateral sclerosis (ALS), FTD/motor neuron disease, corticobasal syndrome/corticobasal degeneration, progressive supranuclear palsy, Pick disease, dementia lacking distinctive histopathology, and pathologically confirmed cases of frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U); and 111 non-FTD cases (controls) in which TDP-43 deposits were a prominent neuropathological feature, including subjects with ALS, Guam ALS and/or parkinsonism dementia complex, Guam dementia, Alzheimer disease, multiple system atrophy, and argyrophilic grain disease.</p></sec><sec id="S6"><title>Main Outcome Measures</title><p id="P8">Variants detected on sequencing of all 13 <italic>GRN</italic> exons and at least 80 base pairs of flanking introns, and their pathogenic candidacy determined by <italic>in silico</italic> and <italic>ex vivo</italic> splicing assays.</p></sec><sec id="S7"><title>Results</title><p id="P9">We identified 58 genetic variants that included 26 previously unknown changes. Twenty-four variants appeared to be pathogenic, including 8 novel mutations. The frequency of <italic>GRN</italic> mutations was 6.9% (30 of 434) of all FTD-spectrum cases, 21.4% (9 of 42) of cases with a pathological diagnosis of FTLD-U, 16.0% (28 of 175) of FTD-spectrum cases with a family history of a similar neurodegenerative disease, and 56.2% (9 of 16) of cases of FTLD-U with a family history.</p></sec><sec id="S8"><title>Conclusions</title><p id="P10">Pathogenic mutations were found only in FTD-spectrum cases and not in other related neurodegenerative diseases. Haploinsufficiency of <italic>GRN</italic> is the predominant mechanism leading to FTD.</p></sec></div></front></TEI><pmc article-type="research-article" xml:lang="EN"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">0372436</journal-id><journal-id journal-id-type="pubmed-jr-id">804</journal-id><journal-id journal-id-type="nlm-ta">Arch Neurol</journal-id><journal-title>Archives of neurology</journal-title><issn pub-type="ppub">0003-9942</issn><issn pub-type="epub">1538-3687</issn></journal-meta><article-meta><article-id pub-id-type="pmid">20142524</article-id><article-id pub-id-type="pmc">2901991</article-id><article-id pub-id-type="doi">10.1001/archneurol.2009.328</article-id><article-id pub-id-type="manuscript">NIHMS210484</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>The Spectrum of Mutations in Progranulin</article-title><subtitle>A Collaborative Study Screening 545 Cases of Neurodegeneration</subtitle></title-group><contrib-group><contrib contrib-type="author"><name><surname>Yu</surname><given-names>Chang-En</given-names></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Bird</surname><given-names>Thomas D.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Bekris</surname><given-names>Lynn M.</given-names></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Montine</surname><given-names>Thomas J.</given-names></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Leverenz</surname><given-names>James B.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Steinbart</surname><given-names>Ellen</given-names></name><degrees>MA</degrees></contrib><contrib contrib-type="author"><name><surname>Galloway</surname><given-names>Nichole M.</given-names></name><degrees>BS</degrees></contrib><contrib contrib-type="author"><name><surname>Feldman</surname><given-names>Howard</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Woltjer</surname><given-names>Randall</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Miller</surname><given-names>Carol A.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Wood</surname><given-names>Elisabeth McCarty</given-names></name><degrees>MS</degrees></contrib><contrib contrib-type="author"><name><surname>Grossman</surname><given-names>Murray</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>McCluskey</surname><given-names>Leo</given-names></name><degrees>MD, MBE</degrees></contrib><contrib contrib-type="author"><name><surname>Clark</surname><given-names>Christopher M.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Neumann</surname><given-names>Manuela</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Danek</surname><given-names>Adrian</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Galasko</surname><given-names>Douglas R.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Arnold</surname><given-names>Steven E.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Chen-Plotkin</surname><given-names>Alice</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Karydas</surname><given-names>Anna</given-names></name><degrees>BA</degrees></contrib><contrib contrib-type="author"><name><surname>Miller</surname><given-names>Bruce L.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Trojanowski</surname><given-names>John Q.</given-names></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Lee</surname><given-names>Virginia M.-Y.</given-names></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Schellenberg</surname><given-names>Gerard D.</given-names></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Van Deerlin</surname><given-names>Vivianna M.</given-names></name><degrees>MD, PhD</degrees></contrib><aff id="A1">Geriatric (Drs Yu, Bird, and Bekris and Mss Steinbart and Galloway) and Mental Illness (Dr Leverenz) Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, Washington; Divisions of Gerontology and Geriatric Medicine (Drs Yu and Bekris), Medical Genetics (Dr Bird), Neurology (Drs Bird and Leverenz and Ms Steinbart), and Pathology (Dr Montine), Department of Medicine, University of Washington School of Medicine, Seattle; Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada (Dr Feldman); Department of Neuropathology, Oregon Health & Science University, Portland (Dr Woltjer); Department of Pathology, Keck School of Medicine of University of Southern California, Los Angeles (Dr C. A. Miller); Center for Neurodegenerative Disease Research (Ms Wood and Drs ChenPlotkin, Trojanowski, Lee, and Van Deerlin), Departments of Pathology and Laboratory Medicine (Drs Trojanowski, Lee, Schellenberg, and Van Deerlin), Neurology (Drs Grossman, McCluskey, Clark, Arnold, and Chen-Plotkin), and Psychiatry (Dr Arnold) and Institute on Aging (Drs Clark, Arnold, Trojanowski, Lee, Schellenberg, and Van Deerlin), University of Pennsylvania School of Medicine, Philadelphia; Center for Neuropathology and Prion Research (Dr Neumann) and Neurologische Klinik (Dr Danek), Ludwig-Maximilians-Universität, Munich, Germany; Department of Neuroscience, University of California at San Diego and Veterans Affairs Medical Center, San Diego; (Dr Galasko); and Memory and Aging Center, Department of Neurology, University of California at San Francisco (Ms Karydas and Dr B. L. Miller)</aff></contrib-group><author-notes><corresp id="CR1"><bold>Correspondence:</bold> Thomas D. Bird, MD, 1660 S. Columbian Way, GRECC, Seattle, WA 98108 (<email>tomnroz@u.washington.edu</email>).</corresp><fn id="FN3"><p id="P1"><bold>Author Contributions:</bold> <italic>Study concept and design:</italic> Yu, Trojanowski, Lee, Schellenberg, and Van Deerlin. <italic>Acquisition of data:</italic> Yu, Bird, Bekris, Montine, Leverenz, Steinbart, Galloway, Feldman, Woltjer, C. A. Miller, Wood, Grossman, McCluskey, Clark, Neumann, Danek, Galasko, Arnold, Karydas, Schellenberg, and Van Deerlin. <italic>Analysis and interpretation of data:</italic> Yu, Montine, C. A. Miller, Neumann, Chen-Plotkin, B. L. Miller, Trojanowski, Lee, Schellenberg, and Van Deerlin. <italic>Drafting of the manuscript:</italic> Yu, Montine, Steinbart, C. A. Miller, Chen-Plotkin, Karydas, Trojanowski, Lee, Schellenberg, and Van Deerlin. Critical revision of the manuscript for important intellectual content: Yu, Bird, Bekris, Montine, Leverenz, Galloway, Feldman, Woltjer, Wood, Grossman, McCluskey, Clark, Neumann, Danek, Galasko, Arnold, B. L. Miller, Trojanowski, Lee, Schellenberg, and Van Deerlin. <italic>Statistical analysis:</italic> B. L. Miller. <italic>Obtained funding:</italic> Yu, Bird, Feldman, Grossman, Neumann, Galasko, Trojanowski, Lee, Schellenberg, and Van Deerlin. <italic>Administrative, technical, and material support:</italic> Yu, Bird, Bekris, Montine, Leverenz, Steinbart, Galloway, Woltjer, C. A. Miller, Wood, McCluskey, Neumann, Galasko, Arnold, Trojanowski, Lee, Schellenberg, and Van Deerlin. <italic>Study supervision:</italic> Yu, Trojanowski, Lee, Schellenberg, and Van Deerlin.</p></fn><fn id="FN6"><p id="P2"><bold>Additional Contributions:</bold> We extend our appreciation to the patients and families who made this research possible. Support for the clinical workup of patients was provided by Ute Wahlländer-Danek, MD, Ingo Uttner, PhD, Gabi ten Bruggencate, MD, and Carolin v. Schlippenbach, DiplPsych. Stephen Reich, MD, John Ebens, MD, Walter Koroshetz, MD, and Alan Lerner, MD, provided individual cases in this study.</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>7</day><month>6</month><year>2010</year></pub-date><pub-date pub-type="ppub"><month>2</month><year>2010</year></pub-date><pub-date pub-type="pmc-release"><day>12</day><month>7</month><year>2010</year></pub-date><volume>67</volume><issue>2</issue><fpage>161</fpage><lpage>170</lpage><permissions><copyright-statement>©2010 American Medical Association. All rights reserved.</copyright-statement><copyright-year>2010</copyright-year></permissions><related-article journal-id-type="nlm-ta" journal-id="Arch Neurol" related-article-type="commentary" page="145" id="N0x218d1fc0N0x22387f30" xlink:href="20142521" ext-link-type="pubmed" vol="67"></related-article><abstract><sec id="S1"><title>Background</title><p id="P3">Mutation in the progranulin gene (<italic>GRN</italic>) can cause frontotemporal dementia (FTD). However, it is unclear whether some rare FTD-related <italic>GRN</italic> variants are pathogenic and whether neurodegenerative disorders other than FTD can also be caused by <italic>GRN</italic> mutations.</p></sec><sec id="S2"><title>Objectives</title><p id="P4">To delineate the range of clinical presentations associated with <italic>GRN</italic> mutations and to define pathogenic candidacy of rare <italic>GRN</italic> variants.</p></sec><sec id="S3"><title>Design</title><p id="P5">Case-control study.</p></sec><sec id="S4"><title>Setting</title><p id="P6">Clinical and neuropathology dementia research studies at 8 academic centers.</p></sec><sec id="S5"><title>Participants</title><p id="P7">Four hundred thirty-four patients with FTD, including primary progressive aphasia, semantic dementia, FTD/amyotrophic lateral sclerosis (ALS), FTD/motor neuron disease, corticobasal syndrome/corticobasal degeneration, progressive supranuclear palsy, Pick disease, dementia lacking distinctive histopathology, and pathologically confirmed cases of frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U); and 111 non-FTD cases (controls) in which TDP-43 deposits were a prominent neuropathological feature, including subjects with ALS, Guam ALS and/or parkinsonism dementia complex, Guam dementia, Alzheimer disease, multiple system atrophy, and argyrophilic grain disease.</p></sec><sec id="S6"><title>Main Outcome Measures</title><p id="P8">Variants detected on sequencing of all 13 <italic>GRN</italic> exons and at least 80 base pairs of flanking introns, and their pathogenic candidacy determined by <italic>in silico</italic> and <italic>ex vivo</italic> splicing assays.</p></sec><sec id="S7"><title>Results</title><p id="P9">We identified 58 genetic variants that included 26 previously unknown changes. Twenty-four variants appeared to be pathogenic, including 8 novel mutations. The frequency of <italic>GRN</italic> mutations was 6.9% (30 of 434) of all FTD-spectrum cases, 21.4% (9 of 42) of cases with a pathological diagnosis of FTLD-U, 16.0% (28 of 175) of FTD-spectrum cases with a family history of a similar neurodegenerative disease, and 56.2% (9 of 16) of cases of FTLD-U with a family history.</p></sec><sec id="S8"><title>Conclusions</title><p id="P10">Pathogenic mutations were found only in FTD-spectrum cases and not in other related neurodegenerative diseases. Haploinsufficiency of <italic>GRN</italic> is the predominant mechanism leading to FTD.</p></sec></abstract><contract-num rid="AG1">P50 AG005136-229007
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