Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia type 6
Identifieur interne : 001981 ( Istex/Curation ); précédent : 001980; suivant : 001982Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia type 6
Auteurs : Takao Hashimoto [Japon] ; Osamu Sasaki [Japon] ; Kunihiro Yoshida [Japon] ; Yo-Ichi Takei [Japon] ; Shu-Ichi Ikeda [Japon]Source :
- Movement Disorders [ 0885-3185 ] ; 2003-10.
English descriptors
Abstract
We report on a family with ataxia type 6 (SCA6) showing peculiar oculomotor symptoms. The proband presented with periodic alternating nystagmus (PAN), and her 2 brothers had rebound nystagmus and gaze‐evoked nystagmus. They carried the identical mutation (the number of expanded CAG repeat, 24) in the CACNA1A gene. The intrafamilial variability of oculomotor symptoms may be ascribed to factors other than CAG repeat expansion size in SCA6. © 2003 Movement Disorder Society
Url:
DOI: 10.1002/mds.10511
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001981
Links to Exploration step
ISTEX:4FAC10E5501C3829F60BEFC2F1EAD3E1B055CEE5Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia type 6</title>
<author><name sortKey="Hashimoto, Takao" sort="Hashimoto, Takao" uniqKey="Hashimoto T" first="Takao" last="Hashimoto">Takao Hashimoto</name>
<affiliation wicri:level="1"><mods:affiliation>Third Department of Medicine, Shinshu University School of Medicine, Matsumoto, Japan</mods:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Third Department of Medicine, Shinshu University School of Medicine, Matsumoto</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sasaki, Osamu" sort="Sasaki, Osamu" uniqKey="Sasaki O" first="Osamu" last="Sasaki">Osamu Sasaki</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan</mods:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Yoshida, Kunihiro" sort="Yoshida, Kunihiro" uniqKey="Yoshida K" first="Kunihiro" last="Yoshida">Kunihiro Yoshida</name>
<affiliation wicri:level="1"><mods:affiliation>Third Department of Medicine, Shinshu University School of Medicine, Matsumoto, Japan</mods:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Third Department of Medicine, Shinshu University School of Medicine, Matsumoto</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Takei, Yo Chi" sort="Takei, Yo Chi" uniqKey="Takei Y" first="Yo-Ichi" last="Takei">Yo-Ichi Takei</name>
<affiliation wicri:level="1"><mods:affiliation>Third Department of Medicine, Shinshu University School of Medicine, Matsumoto, Japan</mods:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Third Department of Medicine, Shinshu University School of Medicine, Matsumoto</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ikeda, Shu Chi" sort="Ikeda, Shu Chi" uniqKey="Ikeda S" first="Shu-Ichi" last="Ikeda">Shu-Ichi Ikeda</name>
<affiliation wicri:level="1"><mods:affiliation>Third Department of Medicine, Shinshu University School of Medicine, Matsumoto, Japan</mods:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Third Department of Medicine, Shinshu University School of Medicine, Matsumoto</wicri:regionArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:4FAC10E5501C3829F60BEFC2F1EAD3E1B055CEE5</idno>
<date when="2003" year="2003">2003</date>
<idno type="doi">10.1002/mds.10511</idno>
<idno type="url">https://api.istex.fr/document/4FAC10E5501C3829F60BEFC2F1EAD3E1B055CEE5/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">001981</idno>
<idno type="wicri:Area/Istex/Curation">001981</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia type 6</title>
<author><name sortKey="Hashimoto, Takao" sort="Hashimoto, Takao" uniqKey="Hashimoto T" first="Takao" last="Hashimoto">Takao Hashimoto</name>
<affiliation wicri:level="1"><mods:affiliation>Third Department of Medicine, Shinshu University School of Medicine, Matsumoto, Japan</mods:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Third Department of Medicine, Shinshu University School of Medicine, Matsumoto</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sasaki, Osamu" sort="Sasaki, Osamu" uniqKey="Sasaki O" first="Osamu" last="Sasaki">Osamu Sasaki</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan</mods:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Yoshida, Kunihiro" sort="Yoshida, Kunihiro" uniqKey="Yoshida K" first="Kunihiro" last="Yoshida">Kunihiro Yoshida</name>
<affiliation wicri:level="1"><mods:affiliation>Third Department of Medicine, Shinshu University School of Medicine, Matsumoto, Japan</mods:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Third Department of Medicine, Shinshu University School of Medicine, Matsumoto</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Takei, Yo Chi" sort="Takei, Yo Chi" uniqKey="Takei Y" first="Yo-Ichi" last="Takei">Yo-Ichi Takei</name>
<affiliation wicri:level="1"><mods:affiliation>Third Department of Medicine, Shinshu University School of Medicine, Matsumoto, Japan</mods:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Third Department of Medicine, Shinshu University School of Medicine, Matsumoto</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ikeda, Shu Chi" sort="Ikeda, Shu Chi" uniqKey="Ikeda S" first="Shu-Ichi" last="Ikeda">Shu-Ichi Ikeda</name>
<affiliation wicri:level="1"><mods:affiliation>Third Department of Medicine, Shinshu University School of Medicine, Matsumoto, Japan</mods:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Third Department of Medicine, Shinshu University School of Medicine, Matsumoto</wicri:regionArea>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. 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="2003-10">2003-10</date>
<biblScope unit="vol">18</biblScope>
<biblScope unit="issue">10</biblScope>
<biblScope unit="page" from="1201">1201</biblScope>
<biblScope unit="page" to="1204">1204</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">4FAC10E5501C3829F60BEFC2F1EAD3E1B055CEE5</idno>
<idno type="DOI">10.1002/mds.10511</idno>
<idno type="ArticleID">MDS10511</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>SCA6</term>
<term>periodic alternating nystagmus</term>
<term>rebound nystagmus</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">We report on a family with ataxia type 6 (SCA6) showing peculiar oculomotor symptoms. The proband presented with periodic alternating nystagmus (PAN), and her 2 brothers had rebound nystagmus and gaze‐evoked nystagmus. They carried the identical mutation (the number of expanded CAG repeat, 24) in the CACNA1A gene. The intrafamilial variability of oculomotor symptoms may be ascribed to factors other than CAG repeat expansion size in SCA6. © 2003 Movement Disorder Society</div>
</front>
</TEI>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Istex/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001981 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Curation/biblio.hfd -nk 001981 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Istex |étape= Curation |type= RBID |clé= ISTEX:4FAC10E5501C3829F60BEFC2F1EAD3E1B055CEE5 |texte= Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia type 6 }}
![]() | This area was generated with Dilib version V0.6.23. | ![]() |