Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia
Identifieur interne : 001D67 ( Istex/Checkpoint ); précédent : 001D66; suivant : 001D68Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia
Auteurs : Satoshi Kaneko [Japon] ; Toshitaka Kawarai [Canada] ; Edwin Yip [Canada] ; Shabnam Salehi-Rad [Canada] ; Christine Sato [Canada] ; Antonio Orlacchio [Italie] ; Giorgio Bernardi [Italie] ; Yan Liang [Canada] ; Hiroshi Hasegawa [Canada] ; Ekaterina Rogaeva [Canada] ; Peter St George-Hyslop [Canada]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-09.
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Abstract
We describe a Japanese family in which inheritance of a novel mutation p.A100T in SPG6 resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of SPG6. © 2006 Movement Disorder Society
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DOI: 10.1002/mds.21005
Affiliations:
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2006-09">2006-09</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1531">1531</biblScope><biblScope unit="page" to="1533">1533</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">9DF355F5598CCA720D20179FD3C021354DA46E96</idno><idno type="DOI">10.1002/mds.21005</idno><idno type="ArticleID">MDS21005</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>SPG6</term><term>hereditary spastic paraplegia</term><term>novel missense mutation</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We describe a Japanese family in which inheritance of a novel mutation p.A100T in SPG6 resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of SPG6. © 2006 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Canada</li><li>Italie</li><li>Japon</li></country><region><li>Latium</li><li>Ontario</li></region><settlement><li>Rome</li><li>Toronto</li></settlement><orgName><li>Université de Toronto</li></orgName></list><tree><country name="Japon"><noRegion><name sortKey="Kaneko, Satoshi" sort="Kaneko, Satoshi" uniqKey="Kaneko S" first="Satoshi" last="Kaneko">Satoshi Kaneko</name></noRegion></country><country name="Canada"><region name="Ontario"><name sortKey="Kawarai, Toshitaka" sort="Kawarai, Toshitaka" uniqKey="Kawarai T" first="Toshitaka" last="Kawarai">Toshitaka Kawarai</name></region><name sortKey="Hasegawa, Hiroshi" sort="Hasegawa, Hiroshi" uniqKey="Hasegawa H" first="Hiroshi" last="Hasegawa">Hiroshi Hasegawa</name><name sortKey="Liang, Yan" sort="Liang, Yan" uniqKey="Liang Y" first="Yan" last="Liang">Yan Liang</name><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><name sortKey="Salehi Ad, Shabnam" sort="Salehi Ad, Shabnam" uniqKey="Salehi Ad S" first="Shabnam" last="Salehi-Rad">Shabnam Salehi-Rad</name><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name><name sortKey="St George Yslop, Peter" sort="St George Yslop, Peter" uniqKey="St George Yslop P" first="Peter" last="St George-Hyslop">Peter St George-Hyslop</name><name sortKey="St George Yslop, Peter" sort="St George Yslop, Peter" uniqKey="St George Yslop P" first="Peter" last="St George-Hyslop">Peter St George-Hyslop</name><name sortKey="Yip, Edwin" sort="Yip, Edwin" uniqKey="Yip E" first="Edwin" last="Yip">Edwin Yip</name></country><country name="Italie"><region name="Latium"><name sortKey="Orlacchio, Antonio" sort="Orlacchio, Antonio" uniqKey="Orlacchio A" first="Antonio" last="Orlacchio">Antonio Orlacchio</name></region><name sortKey="Bernardi, Giorgio" sort="Bernardi, Giorgio" uniqKey="Bernardi G" first="Giorgio" last="Bernardi">Giorgio Bernardi</name><name sortKey="Bernardi, Giorgio" sort="Bernardi, Giorgio" uniqKey="Bernardi G" first="Giorgio" last="Bernardi">Giorgio Bernardi</name><name sortKey="Orlacchio, Antonio" sort="Orlacchio, Antonio" uniqKey="Orlacchio A" first="Antonio" last="Orlacchio">Antonio Orlacchio</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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