C9orf72 and ATXN2 repeat expansions coexist in a family with ataxia, dementia, and parkinsonism.
Identifieur interne : 000115 ( Main/Exploration ); précédent : 000114; suivant : 000116C9orf72 and ATXN2 repeat expansions coexist in a family with ataxia, dementia, and parkinsonism.
Auteurs : Ming Zhang [Canada] ; Zhengrui Xi [Canada] ; Karen Misquitta [Canada] ; Christine Sato [Canada] ; Danielle Moreno [Canada] ; Yan Liang [Canada] ; Elizabeth Slow [Canada] ; Ekaterina Rogaeva [Canada] ; Maria Carmela Tartaglia [Canada]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2017.
Abstract
Intermediate interrupted ataxin 2 (ATXN2) alleles (27-33 CAG-repeats) increase the risk for amyotrophic lateral sclerosis and are reported as modifiers in chromosome 9 open reading frame 72 (C9orf72) carriers, rendering susceptibility to amyotrophic lateral sclerosis rather than frontotemporal lobar degeneration. The clinical presentation of C9orf72 patients with pathogenic ATXN2 alleles (≥35 CAG-repeats) is unknown.
DOI: 10.1002/mds.26841
PubMed: 28124431
Affiliations:
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de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Slow, Elizabeth" sort="Slow, Elizabeth" uniqKey="Slow E" first="Elizabeth" last="Slow">Elizabeth Slow</name><affiliation wicri:level="1"><nlm:affiliation>Krembil Neuroscience Center, Movement Disorder's Clinic, Toronto Western Hospital, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Krembil Neuroscience Center, Movement Disorder's Clinic, Toronto Western Hospital, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><affiliation wicri:level="4"><nlm:affiliation>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Tartaglia, Maria Carmela" sort="Tartaglia, Maria Carmela" uniqKey="Tartaglia M" first="Maria Carmela" last="Tartaglia">Maria Carmela Tartaglia</name><affiliation wicri:level="4"><nlm:affiliation>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Intermediate interrupted ataxin 2 (ATXN2) alleles (27-33 CAG-repeats) increase the risk for amyotrophic lateral sclerosis and are reported as modifiers in chromosome 9 open reading frame 72 (C9orf72) carriers, rendering susceptibility to amyotrophic lateral sclerosis rather than frontotemporal lobar degeneration. The clinical presentation of C9orf72 patients with pathogenic ATXN2 alleles (≥35 CAG-repeats) is unknown.</div></front></TEI><affiliations><list><country><li>Canada</li></country><region><li>Ontario</li></region><settlement><li>Toronto</li></settlement><orgName><li>Université de Toronto</li></orgName></list><tree><country name="Canada"><region name="Ontario"><name sortKey="Zhang, Ming" sort="Zhang, Ming" uniqKey="Zhang M" first="Ming" last="Zhang">Ming Zhang</name></region><name sortKey="Liang, Yan" sort="Liang, Yan" uniqKey="Liang Y" first="Yan" last="Liang">Yan Liang</name><name sortKey="Misquitta, Karen" sort="Misquitta, Karen" uniqKey="Misquitta K" first="Karen" last="Misquitta">Karen Misquitta</name><name sortKey="Moreno, Danielle" sort="Moreno, Danielle" uniqKey="Moreno D" first="Danielle" last="Moreno">Danielle Moreno</name><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name><name sortKey="Slow, Elizabeth" sort="Slow, Elizabeth" uniqKey="Slow E" first="Elizabeth" last="Slow">Elizabeth Slow</name><name sortKey="Tartaglia, Maria Carmela" sort="Tartaglia, Maria Carmela" uniqKey="Tartaglia M" first="Maria Carmela" last="Tartaglia">Maria Carmela Tartaglia</name><name sortKey="Xi, Zhengrui" sort="Xi, Zhengrui" uniqKey="Xi Z" first="Zhengrui" last="Xi">Zhengrui Xi</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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