Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family
Identifieur interne : 001A77 ( Main/Exploration ); précédent : 001A76; suivant : 001A78Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family
Auteurs : Adam L. Boxer [États-Unis] ; Ian R. Mackenzie [Canada] ; Bradley F. Boeve [États-Unis] ; Matthew Baker [États-Unis] ; William W. Seeley [États-Unis] ; Richard Crook [États-Unis] ; Howard Feldman [Canada] ; Ging-Yuek R. Hsiung [Canada] ; Nicola Rutherford [États-Unis] ; Victor Laluz [États-Unis] ; Jennifer Whitwell [États-Unis] ; Dean Foti [Canada] ; Eric Mcdade [États-Unis] ; Jennifer Molano [États-Unis] ; Anna Karydas [États-Unis] ; Aleksandra Wojtas [États-Unis, Pologne] ; Jill Goldman [États-Unis] ; Jacob Mirsky [États-Unis] ; Pheth Sengdy [Canada] ; Stephen Dearmond [États-Unis] ; Bruce L. Miller [États-Unis] ; Rosa Rademakers [États-Unis]Source :
- Journal of neurology, neurosurgery, and psychiatry [ 0022-3050 ] ; 2010.
English descriptors
- KwdEn :
- Adult, Amyotrophic Lateral Sclerosis (complications), Amyotrophic Lateral Sclerosis (genetics), Amyotrophic Lateral Sclerosis (pathology), Autopsy, Brain (pathology), Chromosomes, Human, Pair 9 (genetics), DNA Mutational Analysis, Family, Female, Frontotemporal Dementia (complications), Frontotemporal Dementia (genetics), Frontotemporal Dementia (pathology), Genetic Linkage, Genetic Predisposition to Disease, Genome-Wide Association Study, Haplotypes, Humans, Immunohistochemistry, Lod Score, Magnetic Resonance Imaging, Male, Middle Aged, Parkinson Disease (genetics), Pedigree.
- MESH :
- complications : Amyotrophic Lateral Sclerosis, Frontotemporal Dementia.
- genetics : Amyotrophic Lateral Sclerosis, Chromosomes, Human, Pair 9, Frontotemporal Dementia, Parkinson Disease.
- pathology : Amyotrophic Lateral Sclerosis, Brain, Frontotemporal Dementia.
- Adult, Autopsy, DNA Mutational Analysis, Family, Female, Genetic Linkage, Genetic Predisposition to Disease, Genome-Wide Association Study, Haplotypes, Humans, Immunohistochemistry, Lod Score, Magnetic Resonance Imaging, Male, Middle Aged, Pedigree.
Abstract
Frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) is a heritable form of FTD, but the gene(s) responsible for the majority of autosomal dominant FTD-ALS cases have yet to be found. Previous studies have identified a region on chromosome 9p that is associated with FTD and ALS.
The authors report the clinical, volumetric MRI, neuropathological and genetic features of a new chromosome 9p-linked FTD-ALS family, VSM-20.
Ten members of family VSM-20 displayed heterogeneous clinical phenotypes of isolated behavioural-variant FTD (bvFTD), ALS or a combination of the two. Parkinsonism was common, with one individual presenting with a corticobasal syndrome. Analysis of structural MRI scans from five affected family members revealed grey- and white-matter loss that was most prominent in the frontal lobes, with mild parietal and occipital lobe atrophy, but less temporal lobe atrophy than in 10 severity-matched sporadic bvFTD cases. Autopsy in three family members showed a consistent and unique subtype of FTLD-TDP pathology. Genome-wide linkage analysis conclusively linked family VSM-20 to a 28.3 cM region between D9S1808 and D9S251 on chromosome 9p, reducing the published minimal linked region to a 3.7 Mb interval. Genomic sequencing and expression analysis failed to identify mutations in the 10 known and predicted genes within this candidate region, suggesting that next-generation sequencing may be needed to determine the mutational mechanism associated with chromosome 9p-linked FTD-ALS.
Family VSM-20 significantly reduces the region linked to FTD-ALS on chromosome 9p. A distinct pattern of brain atrophy and neuropathological findings may help to identify other families with FTD-ALS caused by this genetic abnormality.
Url:
DOI: 10.1136/jnnp.2009.204081
PubMed: 20562461
PubMed Central: 3017222
Affiliations:
- Canada, Pologne, États-Unis
- Californie, Floride, Minnesota, État de New York
- New York
- Université Columbia
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Le document en format XML
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</author>
<author><name sortKey="Foti, Dean" sort="Foti, Dean" uniqKey="Foti D" first="Dean" last="Foti">Dean Foti</name>
<affiliation wicri:level="1"><nlm:aff id="A5"> Division of Neurology, University of British Columbia, Vancouver, British Columbia, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea> Division of Neurology, University of British Columbia, Vancouver, British Columbia</wicri:regionArea>
<wicri:noRegion>British Columbia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mcdade, Eric" sort="Mcdade, Eric" uniqKey="Mcdade E" first="Eric" last="Mcdade">Eric Mcdade</name>
<affiliation wicri:level="2"><nlm:aff id="A3"> Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Department of Neurology, Mayo Clinic, Rochester, Minnesota</wicri:regionArea>
<placeName><region type="state">Minnesota</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Molano, Jennifer" sort="Molano, Jennifer" uniqKey="Molano J" first="Jennifer" last="Molano">Jennifer Molano</name>
<affiliation wicri:level="2"><nlm:aff id="A3"> Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Department of Neurology, Mayo Clinic, Rochester, Minnesota</wicri:regionArea>
<placeName><region type="state">Minnesota</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Karydas, Anna" sort="Karydas, Anna" uniqKey="Karydas A" first="Anna" last="Karydas">Anna Karydas</name>
<affiliation wicri:level="2"><nlm:aff id="A1"> Memory and Aging Center, Department of Neurology, University of California, San Francisco, California, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Memory and Aging Center, Department of Neurology, University of California, San Francisco, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wojtas, Aleksandra" sort="Wojtas, Aleksandra" uniqKey="Wojtas A" first="Aleksandra" last="Wojtas">Aleksandra Wojtas</name>
<affiliation wicri:level="2"><nlm:aff id="A4"> Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A7"> Department of Oncology, University of Silesia, Katowice, Poland</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea> Department of Oncology, University of Silesia, Katowice</wicri:regionArea>
<wicri:noRegion>Katowice</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Goldman, Jill" sort="Goldman, Jill" uniqKey="Goldman J" first="Jill" last="Goldman">Jill Goldman</name>
<affiliation wicri:level="4"><nlm:aff id="A8"> Taub Institute, Department of Neurology, Columbia University, New York, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Taub Institute, Department of Neurology, Columbia University, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
<settlement type="city">New York</settlement>
</placeName>
<orgName type="university">Université Columbia</orgName>
</affiliation>
</author>
<author><name sortKey="Mirsky, Jacob" sort="Mirsky, Jacob" uniqKey="Mirsky J" first="Jacob" last="Mirsky">Jacob Mirsky</name>
<affiliation wicri:level="2"><nlm:aff id="A1"> Memory and Aging Center, Department of Neurology, University of California, San Francisco, California, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Memory and Aging Center, Department of Neurology, University of California, San Francisco, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sengdy, Pheth" sort="Sengdy, Pheth" uniqKey="Sengdy P" first="Pheth" last="Sengdy">Pheth Sengdy</name>
<affiliation wicri:level="1"><nlm:aff id="A5"> Division of Neurology, University of British Columbia, Vancouver, British Columbia, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea> Division of Neurology, University of British Columbia, Vancouver, British Columbia</wicri:regionArea>
<wicri:noRegion>British Columbia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dearmond, Stephen" sort="Dearmond, Stephen" uniqKey="Dearmond S" first="Stephen" last="Dearmond">Stephen Dearmond</name>
<affiliation wicri:level="2"><nlm:aff id="A9"> Department of Pathology and Laboratory Medicine, University of California, San Francisco, California, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Department of Pathology and Laboratory Medicine, University of California, San Francisco, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Miller, Bruce L" sort="Miller, Bruce L" uniqKey="Miller B" first="Bruce L" last="Miller">Bruce L. Miller</name>
<affiliation wicri:level="2"><nlm:aff id="A1"> Memory and Aging Center, Department of Neurology, University of California, San Francisco, California, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Memory and Aging Center, Department of Neurology, University of California, San Francisco, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rademakers, Rosa" sort="Rademakers, Rosa" uniqKey="Rademakers R" first="Rosa" last="Rademakers">Rosa Rademakers</name>
<affiliation wicri:level="2"><nlm:aff id="A4"> Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Journal of neurology, neurosurgery, and psychiatry</title>
<idno type="ISSN">0022-3050</idno>
<idno type="eISSN">1468-330X</idno>
<imprint><date when="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Amyotrophic Lateral Sclerosis (complications)</term>
<term>Amyotrophic Lateral Sclerosis (genetics)</term>
<term>Amyotrophic Lateral Sclerosis (pathology)</term>
<term>Autopsy</term>
<term>Brain (pathology)</term>
<term>Chromosomes, Human, Pair 9 (genetics)</term>
<term>DNA Mutational Analysis</term>
<term>Family</term>
<term>Female</term>
<term>Frontotemporal Dementia (complications)</term>
<term>Frontotemporal Dementia (genetics)</term>
<term>Frontotemporal Dementia (pathology)</term>
<term>Genetic Linkage</term>
<term>Genetic Predisposition to Disease</term>
<term>Genome-Wide Association Study</term>
<term>Haplotypes</term>
<term>Humans</term>
<term>Immunohistochemistry</term>
<term>Lod Score</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Parkinson Disease (genetics)</term>
<term>Pedigree</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Amyotrophic Lateral Sclerosis</term>
<term>Frontotemporal Dementia</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Amyotrophic Lateral Sclerosis</term>
<term>Chromosomes, Human, Pair 9</term>
<term>Frontotemporal Dementia</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Amyotrophic Lateral Sclerosis</term>
<term>Brain</term>
<term>Frontotemporal Dementia</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Autopsy</term>
<term>DNA Mutational Analysis</term>
<term>Family</term>
<term>Female</term>
<term>Genetic Linkage</term>
<term>Genetic Predisposition to Disease</term>
<term>Genome-Wide Association Study</term>
<term>Haplotypes</term>
<term>Humans</term>
<term>Immunohistochemistry</term>
<term>Lod Score</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Pedigree</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title>
<p id="P1">Frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) is a heritable form of FTD, but the gene(s) responsible for the majority of autosomal dominant FTD-ALS cases have yet to be found. Previous studies have identified a region on chromosome 9p that is associated with FTD and ALS.</p>
</sec>
<sec sec-type="methods" id="S2"><title>Methods</title>
<p id="P2">The authors report the clinical, volumetric MRI, neuropathological and genetic features of a new chromosome 9p-linked FTD-ALS family, VSM-20.</p>
</sec>
<sec id="S3"><title>Results</title>
<p id="P3">Ten members of family VSM-20 displayed heterogeneous clinical phenotypes of isolated behavioural-variant FTD (bvFTD), ALS or a combination of the two. Parkinsonism was common, with one individual presenting with a corticobasal syndrome. Analysis of structural MRI scans from five affected family members revealed grey- and white-matter loss that was most prominent in the frontal lobes, with mild parietal and occipital lobe atrophy, but less temporal lobe atrophy than in 10 severity-matched sporadic bvFTD cases. Autopsy in three family members showed a consistent and unique subtype of FTLD-TDP pathology. Genome-wide linkage analysis conclusively linked family VSM-20 to a 28.3 cM region between D9S1808 and D9S251 on chromosome 9p, reducing the published minimal linked region to a 3.7 Mb interval. Genomic sequencing and expression analysis failed to identify mutations in the 10 known and predicted genes within this candidate region, suggesting that next-generation sequencing may be needed to determine the mutational mechanism associated with chromosome 9p-linked FTD-ALS.</p>
</sec>
<sec id="S4"><title>Conclusions</title>
<p id="P4">Family VSM-20 significantly reduces the region linked to FTD-ALS on chromosome 9p. A distinct pattern of brain atrophy and neuropathological findings may help to identify other families with FTD-ALS caused by this genetic abnormality.</p>
</sec>
</div>
</front>
</TEI>
<affiliations><list><country><li>Canada</li>
<li>Pologne</li>
<li>États-Unis</li>
</country>
<region><li>Californie</li>
<li>Floride</li>
<li>Minnesota</li>
<li>État de New York</li>
</region>
<settlement><li>New York</li>
</settlement>
<orgName><li>Université Columbia</li>
</orgName>
</list>
<tree><country name="États-Unis"><region name="Californie"><name sortKey="Boxer, Adam L" sort="Boxer, Adam L" uniqKey="Boxer A" first="Adam L" last="Boxer">Adam L. Boxer</name>
</region>
<name sortKey="Baker, Matthew" sort="Baker, Matthew" uniqKey="Baker M" first="Matthew" last="Baker">Matthew Baker</name>
<name sortKey="Boeve, Bradley F" sort="Boeve, Bradley F" uniqKey="Boeve B" first="Bradley F" last="Boeve">Bradley F. Boeve</name>
<name sortKey="Crook, Richard" sort="Crook, Richard" uniqKey="Crook R" first="Richard" last="Crook">Richard Crook</name>
<name sortKey="Dearmond, Stephen" sort="Dearmond, Stephen" uniqKey="Dearmond S" first="Stephen" last="Dearmond">Stephen Dearmond</name>
<name sortKey="Goldman, Jill" sort="Goldman, Jill" uniqKey="Goldman J" first="Jill" last="Goldman">Jill Goldman</name>
<name sortKey="Karydas, Anna" sort="Karydas, Anna" uniqKey="Karydas A" first="Anna" last="Karydas">Anna Karydas</name>
<name sortKey="Laluz, Victor" sort="Laluz, Victor" uniqKey="Laluz V" first="Victor" last="Laluz">Victor Laluz</name>
<name sortKey="Mcdade, Eric" sort="Mcdade, Eric" uniqKey="Mcdade E" first="Eric" last="Mcdade">Eric Mcdade</name>
<name sortKey="Miller, Bruce L" sort="Miller, Bruce L" uniqKey="Miller B" first="Bruce L" last="Miller">Bruce L. Miller</name>
<name sortKey="Mirsky, Jacob" sort="Mirsky, Jacob" uniqKey="Mirsky J" first="Jacob" last="Mirsky">Jacob Mirsky</name>
<name sortKey="Molano, Jennifer" sort="Molano, Jennifer" uniqKey="Molano J" first="Jennifer" last="Molano">Jennifer Molano</name>
<name sortKey="Rademakers, Rosa" sort="Rademakers, Rosa" uniqKey="Rademakers R" first="Rosa" last="Rademakers">Rosa Rademakers</name>
<name sortKey="Rutherford, Nicola" sort="Rutherford, Nicola" uniqKey="Rutherford N" first="Nicola" last="Rutherford">Nicola Rutherford</name>
<name sortKey="Seeley, William W" sort="Seeley, William W" uniqKey="Seeley W" first="William W" last="Seeley">William W. Seeley</name>
<name sortKey="Whitwell, Jennifer" sort="Whitwell, Jennifer" uniqKey="Whitwell J" first="Jennifer" last="Whitwell">Jennifer Whitwell</name>
<name sortKey="Wojtas, Aleksandra" sort="Wojtas, Aleksandra" uniqKey="Wojtas A" first="Aleksandra" last="Wojtas">Aleksandra Wojtas</name>
</country>
<country name="Canada"><noRegion><name sortKey="Mackenzie, Ian R" sort="Mackenzie, Ian R" uniqKey="Mackenzie I" first="Ian R" last="Mackenzie">Ian R. Mackenzie</name>
</noRegion>
<name sortKey="Feldman, Howard" sort="Feldman, Howard" uniqKey="Feldman H" first="Howard" last="Feldman">Howard Feldman</name>
<name sortKey="Foti, Dean" sort="Foti, Dean" uniqKey="Foti D" first="Dean" last="Foti">Dean Foti</name>
<name sortKey="Hsiung, Ging Yuek R" sort="Hsiung, Ging Yuek R" uniqKey="Hsiung G" first="Ging-Yuek R" last="Hsiung">Ging-Yuek R. Hsiung</name>
<name sortKey="Sengdy, Pheth" sort="Sengdy, Pheth" uniqKey="Sengdy P" first="Pheth" last="Sengdy">Pheth Sengdy</name>
</country>
<country name="Pologne"><noRegion><name sortKey="Wojtas, Aleksandra" sort="Wojtas, Aleksandra" uniqKey="Wojtas A" first="Aleksandra" last="Wojtas">Aleksandra Wojtas</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
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