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Genetic and Clinical Features of Progranulin-Associated Frontotemporal Lobar Degeneration

Identifieur interne : 001661 ( Main/Exploration ); précédent : 001660; suivant : 001662

Genetic and Clinical Features of Progranulin-Associated Frontotemporal Lobar Degeneration

Auteurs : Alice S. Chen-Plotkin ; Maria Martinez-Lage ; Patrick M. A. Sleiman ; William Hu ; Robert Greene ; Elisabeth Mccarty Wood ; Shaoxu Bing ; Murray Grossman ; Gerard D. Schellenberg ; Kimmo J. Hatanpaa ; Myron F. Weiner ; Charles L. White ; William S. Brooks ; Glenda M. Halliday ; Jillian J. Kril ; Marla Gearing ; Thomas G. Beach ; Neill R. Graff-Radford ; Dennis W. Dickson ; Rosa Rademakers ; Bradley F. Boeve ; Stuart M. Pickering-Brown ; Julie Snowden ; John C. Van Swieten ; Peter Heutink ; Harro Seelaar ; Jill R. Murrell ; Bernardino Ghetti ; Salvatore Spina ; Jordan Grafman ; Jeffrey A. Kaye ; Randall L. Woltjer ; Marsel Mesulam ; Eileen Bigio ; Albert Llad ; Bruce L. Miller ; Ainhoa Alzualde ; Fermin Moreno ; Jonathan D. Rohrer ; Ian R. A. Mackenzie ; Howard H. Feldman ; Ronald L. Hamilton ; Marc Cruts ; Sebastiaan Engelborghs ; Peter P. De Deyn ; Christine Van Broeckhoven ; Thomas D. Bird ; Nigel J. Cairns ; Allison Goate ; Matthew P. Frosch ; Peter F. Riederer ; Nenad Bogdanovic ; Virginia M. Y. Lee ; John Q. Trojanowski ; Vivianna M. Van Deerlin

Source :

RBID : PMC:3160280

Abstract

Objective

To assess the relative frequency of unique mutations and their associated characteristics in 97 individuals with mutations in progranulin (GRN), an important cause of frontotemporal lobar degeneration (FTLD).

Participants and Design

A 46-site International Frontotemporal Lobar Degeneration Collaboration was formed to collect cases of FTLD with TAR DNA-binding protein of 43-kDa (TDP-43)–positive inclusions (FTLD-TDP). We identified 97 individuals with FTLD-TDP with pathogenic GRN mutations (GRN+ FTLD-TDP), assessed their genetic and clinical characteristics, and compared them with 453 patients with FTLD-TDP in which GRN mutations were excluded (GRN− FTLD-TDP). No patients were known to be related. Neuropathologic characteristics were confirmed as FTLD-TDP in 79 of the 97 GRN+ FTLDTDP cases and all of the GRN− FTLD-TDP cases.

Results

Age at onset of FTLD was younger in patients with GRN+ FTLD-TDP vs GRN− FTLD-TDP (median, 58.0 vs 61.0 years; P<.001), as was age at death (median, 65.5 vs 69.0 years; P<.001). Concomitant motor neuron disease was much less common in GRN+ FTLDTDP vs GRN− FTLD-TDP (5.4% vs 26.3%; P<.001). Fifty different GRN mutations were observed, including 2 novel mutations: c.139delG (p.D47TfsX7) and c.378C>A (p.C126X). The 2 most common GRN mutations were c.1477C>T (p.R493X, found in 18 patients, representing 18.6% of GRN cases) and c.26C>A (p.A9D, found in 6 patients, representing 6.2% of cases). Patients with the c.1477C>T mutation shared a haplotype on chromosome 17; clinically, they resembled patients with other GRN mutations. Patients with the c.26C>A mutation appeared to have a younger age at onset of FTLD and at death and more parkinsonian features than those with other GRN mutations.

Conclusion

GRN+ FTLD-TDP differs in key features from GRN− FTLD-TDP.


Url:
DOI: 10.1001/archneurol.2011.53
PubMed: 21482928
PubMed Central: 3160280


Affiliations:


Links toward previous steps (curation, corpus...)


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<title xml:lang="en" level="a" type="main">Genetic and Clinical Features of Progranulin-Associated Frontotemporal Lobar Degeneration</title>
<author>
<name sortKey="Chen Plotkin, Alice S" sort="Chen Plotkin, Alice S" uniqKey="Chen Plotkin A" first="Alice S." last="Chen-Plotkin">Alice S. Chen-Plotkin</name>
</author>
<author>
<name sortKey="Martinez Lage, Maria" sort="Martinez Lage, Maria" uniqKey="Martinez Lage M" first="Maria" last="Martinez-Lage">Maria Martinez-Lage</name>
</author>
<author>
<name sortKey="Sleiman, Patrick M A" sort="Sleiman, Patrick M A" uniqKey="Sleiman P" first="Patrick M. A." last="Sleiman">Patrick M. A. Sleiman</name>
</author>
<author>
<name sortKey="Hu, William" sort="Hu, William" uniqKey="Hu W" first="William" last="Hu">William Hu</name>
</author>
<author>
<name sortKey="Greene, Robert" sort="Greene, Robert" uniqKey="Greene R" first="Robert" last="Greene">Robert Greene</name>
</author>
<author>
<name sortKey="Wood, Elisabeth Mccarty" sort="Wood, Elisabeth Mccarty" uniqKey="Wood E" first="Elisabeth Mccarty" last="Wood">Elisabeth Mccarty Wood</name>
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<author>
<name sortKey="Bing, Shaoxu" sort="Bing, Shaoxu" uniqKey="Bing S" first="Shaoxu" last="Bing">Shaoxu Bing</name>
</author>
<author>
<name sortKey="Grossman, Murray" sort="Grossman, Murray" uniqKey="Grossman M" first="Murray" last="Grossman">Murray Grossman</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="Hatanpaa, Kimmo J" sort="Hatanpaa, Kimmo J" uniqKey="Hatanpaa K" first="Kimmo J." last="Hatanpaa">Kimmo J. Hatanpaa</name>
</author>
<author>
<name sortKey="Weiner, Myron F" sort="Weiner, Myron F" uniqKey="Weiner M" first="Myron F." last="Weiner">Myron F. Weiner</name>
</author>
<author>
<name sortKey="White, Charles L" sort="White, Charles L" uniqKey="White C" first="Charles L." last="White">Charles L. White</name>
</author>
<author>
<name sortKey="Brooks, William S" sort="Brooks, William S" uniqKey="Brooks W" first="William S." last="Brooks">William S. Brooks</name>
</author>
<author>
<name sortKey="Halliday, Glenda M" sort="Halliday, Glenda M" uniqKey="Halliday G" first="Glenda M." last="Halliday">Glenda M. Halliday</name>
</author>
<author>
<name sortKey="Kril, Jillian J" sort="Kril, Jillian J" uniqKey="Kril J" first="Jillian J." last="Kril">Jillian J. Kril</name>
</author>
<author>
<name sortKey="Gearing, Marla" sort="Gearing, Marla" uniqKey="Gearing M" first="Marla" last="Gearing">Marla Gearing</name>
</author>
<author>
<name sortKey="Beach, Thomas G" sort="Beach, Thomas G" uniqKey="Beach T" first="Thomas G." last="Beach">Thomas G. Beach</name>
</author>
<author>
<name sortKey="Graff Radford, Neill R" sort="Graff Radford, Neill R" uniqKey="Graff Radford N" first="Neill R." last="Graff-Radford">Neill R. Graff-Radford</name>
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<name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name>
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<name sortKey="Rademakers, Rosa" sort="Rademakers, Rosa" uniqKey="Rademakers R" first="Rosa" last="Rademakers">Rosa Rademakers</name>
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<name sortKey="Pickering Brown, Stuart M" sort="Pickering Brown, Stuart M" uniqKey="Pickering Brown S" first="Stuart M." last="Pickering-Brown">Stuart M. Pickering-Brown</name>
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<name sortKey="Snowden, Julie" sort="Snowden, Julie" uniqKey="Snowden J" first="Julie" last="Snowden">Julie Snowden</name>
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<name sortKey="Van Swieten, John C" sort="Van Swieten, John C" uniqKey="Van Swieten J" first="John C." last="Van Swieten">John C. Van Swieten</name>
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<name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name>
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<name sortKey="Seelaar, Harro" sort="Seelaar, Harro" uniqKey="Seelaar H" first="Harro" last="Seelaar">Harro Seelaar</name>
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<name sortKey="Murrell, Jill R" sort="Murrell, Jill R" uniqKey="Murrell J" first="Jill R." last="Murrell">Jill R. Murrell</name>
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<name sortKey="Ghetti, Bernardino" sort="Ghetti, Bernardino" uniqKey="Ghetti B" first="Bernardino" last="Ghetti">Bernardino Ghetti</name>
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<name sortKey="Grafman, Jordan" sort="Grafman, Jordan" uniqKey="Grafman J" first="Jordan" last="Grafman">Jordan Grafman</name>
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<name sortKey="Mesulam, Marsel" sort="Mesulam, Marsel" uniqKey="Mesulam M" first="Marsel" last="Mesulam">Marsel Mesulam</name>
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<name sortKey="Bigio, Eileen" sort="Bigio, Eileen" uniqKey="Bigio E" first="Eileen" last="Bigio">Eileen Bigio</name>
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<name sortKey="Llad, Albert" sort="Llad, Albert" uniqKey="Llad A" first="Albert" last="Llad">Albert Llad</name>
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<name sortKey="Alzualde, Ainhoa" sort="Alzualde, Ainhoa" uniqKey="Alzualde A" first="Ainhoa" last="Alzualde">Ainhoa Alzualde</name>
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<name sortKey="Moreno, Fermin" sort="Moreno, Fermin" uniqKey="Moreno F" first="Fermin" last="Moreno">Fermin Moreno</name>
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<name sortKey="Rohrer, Jonathan D" sort="Rohrer, Jonathan D" uniqKey="Rohrer J" first="Jonathan D." last="Rohrer">Jonathan D. Rohrer</name>
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<name sortKey="Mackenzie, Ian R A" sort="Mackenzie, Ian R A" uniqKey="Mackenzie I" first="Ian R. A." last="Mackenzie">Ian R. A. Mackenzie</name>
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<name sortKey="Feldman, Howard H" sort="Feldman, Howard H" uniqKey="Feldman H" first="Howard H." last="Feldman">Howard H. Feldman</name>
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<name sortKey="Hamilton, Ronald L" sort="Hamilton, Ronald L" uniqKey="Hamilton R" first="Ronald L." last="Hamilton">Ronald L. Hamilton</name>
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<name sortKey="Cruts, Marc" sort="Cruts, Marc" uniqKey="Cruts M" first="Marc" last="Cruts">Marc Cruts</name>
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<name sortKey="Engelborghs, Sebastiaan" sort="Engelborghs, Sebastiaan" uniqKey="Engelborghs S" first="Sebastiaan" last="Engelborghs">Sebastiaan Engelborghs</name>
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<name sortKey="De Deyn, Peter P" sort="De Deyn, Peter P" uniqKey="De Deyn P" first="Peter P." last="De Deyn">Peter P. De Deyn</name>
</author>
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<name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</name>
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<name sortKey="Bird, Thomas D" sort="Bird, Thomas D" uniqKey="Bird T" first="Thomas D." last="Bird">Thomas D. Bird</name>
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<name sortKey="Cairns, Nigel J" sort="Cairns, Nigel J" uniqKey="Cairns N" first="Nigel J." last="Cairns">Nigel J. Cairns</name>
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<name sortKey="Goate, Allison" sort="Goate, Allison" uniqKey="Goate A" first="Allison" last="Goate">Allison Goate</name>
</author>
<author>
<name sortKey="Frosch, Matthew P" sort="Frosch, Matthew P" uniqKey="Frosch M" first="Matthew P." last="Frosch">Matthew P. Frosch</name>
</author>
<author>
<name sortKey="Riederer, Peter F" sort="Riederer, Peter F" uniqKey="Riederer P" first="Peter F." last="Riederer">Peter F. Riederer</name>
</author>
<author>
<name sortKey="Bogdanovic, Nenad" sort="Bogdanovic, Nenad" uniqKey="Bogdanovic N" first="Nenad" last="Bogdanovic">Nenad Bogdanovic</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="Trojanowski, John Q" sort="Trojanowski, John Q" uniqKey="Trojanowski J" first="John Q." last="Trojanowski">John Q. Trojanowski</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="2011">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc>
<textClass></textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">
<sec id="S1">
<title>Objective</title>
<p id="P1">To assess the relative frequency of unique mutations and their associated characteristics in 97 individuals with mutations in progranulin (
<italic>GRN</italic>
), an important cause of frontotemporal lobar degeneration (FTLD).</p>
</sec>
<sec id="S2">
<title>Participants and Design</title>
<p id="P2">A 46-site International Frontotemporal Lobar Degeneration Collaboration was formed to collect cases of FTLD with TAR DNA-binding protein of 43-kDa (TDP-43)–positive inclusions (FTLD-TDP). We identified 97 individuals with FTLD-TDP with pathogenic
<italic>GRN</italic>
mutations (
<italic>GRN</italic>
+ FTLD-TDP), assessed their genetic and clinical characteristics, and compared them with 453 patients with FTLD-TDP in which
<italic>GRN</italic>
mutations were excluded (
<italic>GRN</italic>
− FTLD-TDP). No patients were known to be related. Neuropathologic characteristics were confirmed as FTLD-TDP in 79 of the 97
<italic>GRN</italic>
+ FTLDTDP cases and all of the
<italic>GRN</italic>
− FTLD-TDP cases.</p>
</sec>
<sec id="S3">
<title>Results</title>
<p id="P3">Age at onset of FTLD was younger in patients with
<italic>GRN</italic>
+ FTLD-TDP vs
<italic>GRN</italic>
− FTLD-TDP (median, 58.0 vs 61.0 years;
<italic>P</italic>
<.001), as was age at death (median, 65.5 vs 69.0 years;
<italic>P</italic>
<.001). Concomitant motor neuron disease was much less common in
<italic>GRN</italic>
+ FTLDTDP vs
<italic>GRN</italic>
− FTLD-TDP (5.4% vs 26.3%;
<italic>P</italic>
<.001). Fifty different
<italic>GRN</italic>
mutations were observed, including 2 novel mutations: c.139delG (p.D47TfsX7) and c.378C>A (p.C126X). The 2 most common
<italic>GRN</italic>
mutations were c.1477C>T (p.R493X, found in 18 patients, representing 18.6% of
<italic>GRN</italic>
cases) and c.26C>A (p.A9D, found in 6 patients, representing 6.2% of cases). Patients with the c.1477C>T mutation shared a haplotype on chromosome 17; clinically, they resembled patients with other
<italic>GRN</italic>
mutations. Patients with the c.26C>A mutation appeared to have a younger age at onset of FTLD and at death and more parkinsonian features than those with other
<italic>GRN</italic>
mutations.</p>
</sec>
<sec id="S4">
<title>Conclusion</title>
<p id="P4">
<italic>GRN</italic>
+ FTLD-TDP differs in key features from
<italic>GRN</italic>
− FTLD-TDP.</p>
</sec>
</div>
</front>
</TEI>
<affiliations>
<list></list>
<tree>
<noCountry>
<name sortKey="Alzualde, Ainhoa" sort="Alzualde, Ainhoa" uniqKey="Alzualde A" first="Ainhoa" last="Alzualde">Ainhoa Alzualde</name>
<name sortKey="Beach, Thomas G" sort="Beach, Thomas G" uniqKey="Beach T" first="Thomas G." last="Beach">Thomas G. Beach</name>
<name sortKey="Bigio, Eileen" sort="Bigio, Eileen" uniqKey="Bigio E" first="Eileen" last="Bigio">Eileen Bigio</name>
<name sortKey="Bing, Shaoxu" sort="Bing, Shaoxu" uniqKey="Bing S" first="Shaoxu" last="Bing">Shaoxu Bing</name>
<name sortKey="Bird, Thomas D" sort="Bird, Thomas D" uniqKey="Bird T" first="Thomas D." last="Bird">Thomas D. Bird</name>
<name sortKey="Boeve, Bradley F" sort="Boeve, Bradley F" uniqKey="Boeve B" first="Bradley F." last="Boeve">Bradley F. Boeve</name>
<name sortKey="Bogdanovic, Nenad" sort="Bogdanovic, Nenad" uniqKey="Bogdanovic N" first="Nenad" last="Bogdanovic">Nenad Bogdanovic</name>
<name sortKey="Brooks, William S" sort="Brooks, William S" uniqKey="Brooks W" first="William S." last="Brooks">William S. Brooks</name>
<name sortKey="Cairns, Nigel J" sort="Cairns, Nigel J" uniqKey="Cairns N" first="Nigel J." last="Cairns">Nigel J. Cairns</name>
<name sortKey="Chen Plotkin, Alice S" sort="Chen Plotkin, Alice S" uniqKey="Chen Plotkin A" first="Alice S." last="Chen-Plotkin">Alice S. Chen-Plotkin</name>
<name sortKey="Cruts, Marc" sort="Cruts, Marc" uniqKey="Cruts M" first="Marc" last="Cruts">Marc Cruts</name>
<name sortKey="De Deyn, Peter P" sort="De Deyn, Peter P" uniqKey="De Deyn P" first="Peter P." last="De Deyn">Peter P. De Deyn</name>
<name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name>
<name sortKey="Engelborghs, Sebastiaan" sort="Engelborghs, Sebastiaan" uniqKey="Engelborghs S" first="Sebastiaan" last="Engelborghs">Sebastiaan Engelborghs</name>
<name sortKey="Feldman, Howard H" sort="Feldman, Howard H" uniqKey="Feldman H" first="Howard H." last="Feldman">Howard H. Feldman</name>
<name sortKey="Frosch, Matthew P" sort="Frosch, Matthew P" uniqKey="Frosch M" first="Matthew P." last="Frosch">Matthew P. Frosch</name>
<name sortKey="Gearing, Marla" sort="Gearing, Marla" uniqKey="Gearing M" first="Marla" last="Gearing">Marla Gearing</name>
<name sortKey="Ghetti, Bernardino" sort="Ghetti, Bernardino" uniqKey="Ghetti B" first="Bernardino" last="Ghetti">Bernardino Ghetti</name>
<name sortKey="Goate, Allison" sort="Goate, Allison" uniqKey="Goate A" first="Allison" last="Goate">Allison Goate</name>
<name sortKey="Graff Radford, Neill R" sort="Graff Radford, Neill R" uniqKey="Graff Radford N" first="Neill R." last="Graff-Radford">Neill R. Graff-Radford</name>
<name sortKey="Grafman, Jordan" sort="Grafman, Jordan" uniqKey="Grafman J" first="Jordan" last="Grafman">Jordan Grafman</name>
<name sortKey="Greene, Robert" sort="Greene, Robert" uniqKey="Greene R" first="Robert" last="Greene">Robert Greene</name>
<name sortKey="Grossman, Murray" sort="Grossman, Murray" uniqKey="Grossman M" first="Murray" last="Grossman">Murray Grossman</name>
<name sortKey="Halliday, Glenda M" sort="Halliday, Glenda M" uniqKey="Halliday G" first="Glenda M." last="Halliday">Glenda M. Halliday</name>
<name sortKey="Hamilton, Ronald L" sort="Hamilton, Ronald L" uniqKey="Hamilton R" first="Ronald L." last="Hamilton">Ronald L. Hamilton</name>
<name sortKey="Hatanpaa, Kimmo J" sort="Hatanpaa, Kimmo J" uniqKey="Hatanpaa K" first="Kimmo J." last="Hatanpaa">Kimmo J. Hatanpaa</name>
<name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name>
<name sortKey="Hu, William" sort="Hu, William" uniqKey="Hu W" first="William" last="Hu">William Hu</name>
<name sortKey="Kaye, Jeffrey A" sort="Kaye, Jeffrey A" uniqKey="Kaye J" first="Jeffrey A." last="Kaye">Jeffrey A. Kaye</name>
<name sortKey="Kril, Jillian J" sort="Kril, Jillian J" uniqKey="Kril J" first="Jillian J." last="Kril">Jillian J. Kril</name>
<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>
<name sortKey="Llad, Albert" sort="Llad, Albert" uniqKey="Llad A" first="Albert" last="Llad">Albert Llad</name>
<name sortKey="Mackenzie, Ian R A" sort="Mackenzie, Ian R A" uniqKey="Mackenzie I" first="Ian R. A." last="Mackenzie">Ian R. A. Mackenzie</name>
<name sortKey="Martinez Lage, Maria" sort="Martinez Lage, Maria" uniqKey="Martinez Lage M" first="Maria" last="Martinez-Lage">Maria Martinez-Lage</name>
<name sortKey="Mesulam, Marsel" sort="Mesulam, Marsel" uniqKey="Mesulam M" first="Marsel" last="Mesulam">Marsel Mesulam</name>
<name sortKey="Miller, Bruce L" sort="Miller, Bruce L" uniqKey="Miller B" first="Bruce L." last="Miller">Bruce L. Miller</name>
<name sortKey="Moreno, Fermin" sort="Moreno, Fermin" uniqKey="Moreno F" first="Fermin" last="Moreno">Fermin Moreno</name>
<name sortKey="Murrell, Jill R" sort="Murrell, Jill R" uniqKey="Murrell J" first="Jill R." last="Murrell">Jill R. Murrell</name>
<name sortKey="Pickering Brown, Stuart M" sort="Pickering Brown, Stuart M" uniqKey="Pickering Brown S" first="Stuart M." last="Pickering-Brown">Stuart M. Pickering-Brown</name>
<name sortKey="Rademakers, Rosa" sort="Rademakers, Rosa" uniqKey="Rademakers R" first="Rosa" last="Rademakers">Rosa Rademakers</name>
<name sortKey="Riederer, Peter F" sort="Riederer, Peter F" uniqKey="Riederer P" first="Peter F." last="Riederer">Peter F. Riederer</name>
<name sortKey="Rohrer, Jonathan D" sort="Rohrer, Jonathan D" uniqKey="Rohrer J" first="Jonathan D." last="Rohrer">Jonathan D. Rohrer</name>
<name sortKey="Schellenberg, Gerard D" sort="Schellenberg, Gerard D" uniqKey="Schellenberg G" first="Gerard D." last="Schellenberg">Gerard D. Schellenberg</name>
<name sortKey="Seelaar, Harro" sort="Seelaar, Harro" uniqKey="Seelaar H" first="Harro" last="Seelaar">Harro Seelaar</name>
<name sortKey="Sleiman, Patrick M A" sort="Sleiman, Patrick M A" uniqKey="Sleiman P" first="Patrick M. A." last="Sleiman">Patrick M. A. Sleiman</name>
<name sortKey="Snowden, Julie" sort="Snowden, Julie" uniqKey="Snowden J" first="Julie" last="Snowden">Julie Snowden</name>
<name sortKey="Spina, Salvatore" sort="Spina, Salvatore" uniqKey="Spina S" first="Salvatore" last="Spina">Salvatore Spina</name>
<name sortKey="Trojanowski, John Q" sort="Trojanowski, John Q" uniqKey="Trojanowski J" first="John Q." last="Trojanowski">John Q. Trojanowski</name>
<name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</name>
<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>
<name sortKey="Van Swieten, John C" sort="Van Swieten, John C" uniqKey="Van Swieten J" first="John C." last="Van Swieten">John C. Van Swieten</name>
<name sortKey="Weiner, Myron F" sort="Weiner, Myron F" uniqKey="Weiner M" first="Myron F." last="Weiner">Myron F. Weiner</name>
<name sortKey="White, Charles L" sort="White, Charles L" uniqKey="White C" first="Charles L." last="White">Charles L. White</name>
<name sortKey="Woltjer, Randall L" sort="Woltjer, Randall L" uniqKey="Woltjer R" first="Randall L." last="Woltjer">Randall L. Woltjer</name>
<name sortKey="Wood, Elisabeth Mccarty" sort="Wood, Elisabeth Mccarty" uniqKey="Wood E" first="Elisabeth Mccarty" last="Wood">Elisabeth Mccarty Wood</name>
</noCountry>
</tree>
</affiliations>
</record>

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