Loading…
Internuclear Ophthalmoparesis in Episodic Ataxia Type 2
: Two patients sharing a novel mutation of the CACNA1A gene for P/Q calcium channels showed significant slowing of adducting saccades compared with normal subjects or patients with cerebellar disease. Internuclear ophthalmoparesis (INO) was clinically evident in one. While these findings might be sp...
Saved in:
Published in: | Annals of the New York Academy of Sciences 2005-04, Vol.1039 (1), p.571-574 |
---|---|
Main Authors: | , , , , , |
Format: | Article |
Language: | English |
Subjects: | |
Citations: | Items that this one cites Items that cite this one |
Online Access: | Get full text |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
cited_by | cdi_FETCH-LOGICAL-c5411-2c9cda3ad6e78087b9a7a632a2a125fec13016c0ea3cba1f8bb3b6bbd2d0ad433 |
---|---|
cites | cdi_FETCH-LOGICAL-c5411-2c9cda3ad6e78087b9a7a632a2a125fec13016c0ea3cba1f8bb3b6bbd2d0ad433 |
container_end_page | 574 |
container_issue | 1 |
container_start_page | 571 |
container_title | Annals of the New York Academy of Sciences |
container_volume | 1039 |
creator | RUCKER, JANET C. JEN, JOANNA STAHL, JOHN S. NATESAN, NANDHITHA BALOH, R.BERT W. LEIGH, R.JOHN |
description | : Two patients sharing a novel mutation of the CACNA1A gene for P/Q calcium channels showed significant slowing of adducting saccades compared with normal subjects or patients with cerebellar disease. Internuclear ophthalmoparesis (INO) was clinically evident in one. While these findings might be specific to this mutation, INO in our patients with episodic ataxia type 2 suggested involvement outside the cerebellum, either in the brain‐stem internuclear pathway or at the neuromuscular junction. |
doi_str_mv | 10.1196/annals.1325.070 |
format | article |
fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_67739304</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>17533874</sourcerecordid><originalsourceid>FETCH-LOGICAL-c5411-2c9cda3ad6e78087b9a7a632a2a125fec13016c0ea3cba1f8bb3b6bbd2d0ad433</originalsourceid><addsrcrecordid>eNqFkTFv2zAQRomiReOmmbsVmooscnikqBNHI0jiAG4yNEXQLMSJohG2sqSSMhL_-9KQ0W71QNzyvu-Ie4x9Aj4H0OUFdR21cQ5SqDlH_obNAAudl6UUb9mMc8S80kKesA8x_uQcRFXge3YCqhLIhZoxvO1GF7qtbR2F7H54Hp-p3fQDBRd9zHyXXQ0-9o232WKkV0_Zw25wmfjI3q3TZnd2mKfs-_XVw-UyX93f3F4uVrlVBUAurLYNSWpKhxWvsNaElD5HgkCotbMgOZSWO5K2JlhXdS3rsq4b0XBqCilP2Zepdwj9762Lo9n4aF3bUuf6bTQlotSSF0dBQCVlhXvw_P9gqtTpAR5HFUjFBWqd0IsJtaGPMbi1GYLfUNgZ4GavykyqzF6VSapS4vOhfFtvXPOPP7hJQDEBL751u2N95u7H4ptCSLF8ivk4ute_MQq_0rEkKvN4d2OqYrlcPn1dmUf5B30Xrwk</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1513502799</pqid></control><display><type>article</type><title>Internuclear Ophthalmoparesis in Episodic Ataxia Type 2</title><source>Wiley</source><creator>RUCKER, JANET C. ; JEN, JOANNA ; STAHL, JOHN S. ; NATESAN, NANDHITHA ; BALOH, R.BERT W. ; LEIGH, R.JOHN</creator><creatorcontrib>RUCKER, JANET C. ; JEN, JOANNA ; STAHL, JOHN S. ; NATESAN, NANDHITHA ; BALOH, R.BERT W. ; LEIGH, R.JOHN</creatorcontrib><description>: Two patients sharing a novel mutation of the CACNA1A gene for P/Q calcium channels showed significant slowing of adducting saccades compared with normal subjects or patients with cerebellar disease. Internuclear ophthalmoparesis (INO) was clinically evident in one. While these findings might be specific to this mutation, INO in our patients with episodic ataxia type 2 suggested involvement outside the cerebellum, either in the brain‐stem internuclear pathway or at the neuromuscular junction.</description><identifier>ISSN: 0077-8923</identifier><identifier>EISSN: 1749-6632</identifier><identifier>DOI: 10.1196/annals.1325.070</identifier><identifier>PMID: 15827025</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Adult ; Ataxia ; Calcium ; calcium channelopathies ; Calcium Channels - genetics ; Cerebellar Ataxia - genetics ; Cerebellum ; Channels ; Depth Perception ; Fixation, Ocular ; Genes ; Humans ; Male ; Mutation ; Mutations ; Ophthalmoplegia - diagnosis ; Ophthalmoplegia - etiology ; Ophthalmoplegia - genetics ; Patients ; Retarding ; saccades ; Saccades - physiology ; Vision, Ocular</subject><ispartof>Annals of the New York Academy of Sciences, 2005-04, Vol.1039 (1), p.571-574</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5411-2c9cda3ad6e78087b9a7a632a2a125fec13016c0ea3cba1f8bb3b6bbd2d0ad433</citedby><cites>FETCH-LOGICAL-c5411-2c9cda3ad6e78087b9a7a632a2a125fec13016c0ea3cba1f8bb3b6bbd2d0ad433</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1196%2Fannals.1325.070$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1196%2Fannals.1325.070$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,786,790,27957,27958,50923,51032</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15827025$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>RUCKER, JANET C.</creatorcontrib><creatorcontrib>JEN, JOANNA</creatorcontrib><creatorcontrib>STAHL, JOHN S.</creatorcontrib><creatorcontrib>NATESAN, NANDHITHA</creatorcontrib><creatorcontrib>BALOH, R.BERT W.</creatorcontrib><creatorcontrib>LEIGH, R.JOHN</creatorcontrib><title>Internuclear Ophthalmoparesis in Episodic Ataxia Type 2</title><title>Annals of the New York Academy of Sciences</title><addtitle>Ann N Y Acad Sci</addtitle><description>: Two patients sharing a novel mutation of the CACNA1A gene for P/Q calcium channels showed significant slowing of adducting saccades compared with normal subjects or patients with cerebellar disease. Internuclear ophthalmoparesis (INO) was clinically evident in one. While these findings might be specific to this mutation, INO in our patients with episodic ataxia type 2 suggested involvement outside the cerebellum, either in the brain‐stem internuclear pathway or at the neuromuscular junction.</description><subject>Adult</subject><subject>Ataxia</subject><subject>Calcium</subject><subject>calcium channelopathies</subject><subject>Calcium Channels - genetics</subject><subject>Cerebellar Ataxia - genetics</subject><subject>Cerebellum</subject><subject>Channels</subject><subject>Depth Perception</subject><subject>Fixation, Ocular</subject><subject>Genes</subject><subject>Humans</subject><subject>Male</subject><subject>Mutation</subject><subject>Mutations</subject><subject>Ophthalmoplegia - diagnosis</subject><subject>Ophthalmoplegia - etiology</subject><subject>Ophthalmoplegia - genetics</subject><subject>Patients</subject><subject>Retarding</subject><subject>saccades</subject><subject>Saccades - physiology</subject><subject>Vision, Ocular</subject><issn>0077-8923</issn><issn>1749-6632</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><recordid>eNqFkTFv2zAQRomiReOmmbsVmooscnikqBNHI0jiAG4yNEXQLMSJohG2sqSSMhL_-9KQ0W71QNzyvu-Ie4x9Aj4H0OUFdR21cQ5SqDlH_obNAAudl6UUb9mMc8S80kKesA8x_uQcRFXge3YCqhLIhZoxvO1GF7qtbR2F7H54Hp-p3fQDBRd9zHyXXQ0-9o232WKkV0_Zw25wmfjI3q3TZnd2mKfs-_XVw-UyX93f3F4uVrlVBUAurLYNSWpKhxWvsNaElD5HgkCotbMgOZSWO5K2JlhXdS3rsq4b0XBqCilP2Zepdwj9762Lo9n4aF3bUuf6bTQlotSSF0dBQCVlhXvw_P9gqtTpAR5HFUjFBWqd0IsJtaGPMbi1GYLfUNgZ4GavykyqzF6VSapS4vOhfFtvXPOPP7hJQDEBL751u2N95u7H4ptCSLF8ivk4ute_MQq_0rEkKvN4d2OqYrlcPn1dmUf5B30Xrwk</recordid><startdate>200504</startdate><enddate>200504</enddate><creator>RUCKER, JANET C.</creator><creator>JEN, JOANNA</creator><creator>STAHL, JOHN S.</creator><creator>NATESAN, NANDHITHA</creator><creator>BALOH, R.BERT W.</creator><creator>LEIGH, R.JOHN</creator><general>Blackwell Publishing Ltd</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>7SP</scope><scope>7U5</scope><scope>8FD</scope><scope>L7M</scope><scope>7QP</scope><scope>7X8</scope></search><sort><creationdate>200504</creationdate><title>Internuclear Ophthalmoparesis in Episodic Ataxia Type 2</title><author>RUCKER, JANET C. ; JEN, JOANNA ; STAHL, JOHN S. ; NATESAN, NANDHITHA ; BALOH, R.BERT W. ; LEIGH, R.JOHN</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5411-2c9cda3ad6e78087b9a7a632a2a125fec13016c0ea3cba1f8bb3b6bbd2d0ad433</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Adult</topic><topic>Ataxia</topic><topic>Calcium</topic><topic>calcium channelopathies</topic><topic>Calcium Channels - genetics</topic><topic>Cerebellar Ataxia - genetics</topic><topic>Cerebellum</topic><topic>Channels</topic><topic>Depth Perception</topic><topic>Fixation, Ocular</topic><topic>Genes</topic><topic>Humans</topic><topic>Male</topic><topic>Mutation</topic><topic>Mutations</topic><topic>Ophthalmoplegia - diagnosis</topic><topic>Ophthalmoplegia - etiology</topic><topic>Ophthalmoplegia - genetics</topic><topic>Patients</topic><topic>Retarding</topic><topic>saccades</topic><topic>Saccades - physiology</topic><topic>Vision, Ocular</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>RUCKER, JANET C.</creatorcontrib><creatorcontrib>JEN, JOANNA</creatorcontrib><creatorcontrib>STAHL, JOHN S.</creatorcontrib><creatorcontrib>NATESAN, NANDHITHA</creatorcontrib><creatorcontrib>BALOH, R.BERT W.</creatorcontrib><creatorcontrib>LEIGH, R.JOHN</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Electronics & Communications Abstracts</collection><collection>Solid State and Superconductivity Abstracts</collection><collection>Technology Research Database</collection><collection>Advanced Technologies Database with Aerospace</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Annals of the New York Academy of Sciences</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>RUCKER, JANET C.</au><au>JEN, JOANNA</au><au>STAHL, JOHN S.</au><au>NATESAN, NANDHITHA</au><au>BALOH, R.BERT W.</au><au>LEIGH, R.JOHN</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Internuclear Ophthalmoparesis in Episodic Ataxia Type 2</atitle><jtitle>Annals of the New York Academy of Sciences</jtitle><addtitle>Ann N Y Acad Sci</addtitle><date>2005-04</date><risdate>2005</risdate><volume>1039</volume><issue>1</issue><spage>571</spage><epage>574</epage><pages>571-574</pages><issn>0077-8923</issn><eissn>1749-6632</eissn><notes>istex:68288C30CB027A5AC2705FEBC15E78E04A8DCF2D</notes><notes>ArticleID:NYAS571</notes><notes>ark:/67375/WNG-84HHHZML-W</notes><notes>ObjectType-Article-1</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-2</notes><notes>content type line 23</notes><notes>ObjectType-Article-2</notes><notes>ObjectType-Feature-1</notes><notes>ObjectType-Case Study-3</notes><notes>ObjectType-Feature-4</notes><notes>ObjectType-Report-2</notes><abstract>: Two patients sharing a novel mutation of the CACNA1A gene for P/Q calcium channels showed significant slowing of adducting saccades compared with normal subjects or patients with cerebellar disease. Internuclear ophthalmoparesis (INO) was clinically evident in one. While these findings might be specific to this mutation, INO in our patients with episodic ataxia type 2 suggested involvement outside the cerebellum, either in the brain‐stem internuclear pathway or at the neuromuscular junction.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>15827025</pmid><doi>10.1196/annals.1325.070</doi><tpages>4</tpages></addata></record> |
fulltext | fulltext |
identifier | ISSN: 0077-8923 |
ispartof | Annals of the New York Academy of Sciences, 2005-04, Vol.1039 (1), p.571-574 |
issn | 0077-8923 1749-6632 |
language | eng |
recordid | cdi_proquest_miscellaneous_67739304 |
source | Wiley |
subjects | Adult Ataxia Calcium calcium channelopathies Calcium Channels - genetics Cerebellar Ataxia - genetics Cerebellum Channels Depth Perception Fixation, Ocular Genes Humans Male Mutation Mutations Ophthalmoplegia - diagnosis Ophthalmoplegia - etiology Ophthalmoplegia - genetics Patients Retarding saccades Saccades - physiology Vision, Ocular |
title | Internuclear Ophthalmoparesis in Episodic Ataxia Type 2 |
url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-09-22T00%3A24%3A11IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Internuclear%20Ophthalmoparesis%20in%20Episodic%20Ataxia%20Type%202&rft.jtitle=Annals%20of%20the%20New%20York%20Academy%20of%20Sciences&rft.au=RUCKER,%20JANET%20C.&rft.date=2005-04&rft.volume=1039&rft.issue=1&rft.spage=571&rft.epage=574&rft.pages=571-574&rft.issn=0077-8923&rft.eissn=1749-6632&rft_id=info:doi/10.1196/annals.1325.070&rft_dat=%3Cproquest_cross%3E17533874%3C/proquest_cross%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c5411-2c9cda3ad6e78087b9a7a632a2a125fec13016c0ea3cba1f8bb3b6bbd2d0ad433%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=1513502799&rft_id=info:pmid/15827025&rfr_iscdi=true |