Juvenile Huntington's disease presenting as progressive myoclonic epilepsy
A 9-year-old girl, who had no family history of neurologic diseases in the first-degree relatives, had a 3-year history of progressive myoclonus epilepsy (PME). A thorough laboratory investigation was normal. As two sisters of her paternal grandmother were said to have Huntington's disease (HD)...
Gespeichert in:
| Veröffentlicht in: | Neurology 2001-08, Vol.57 (4), p.708-711 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 711 |
|---|---|
| container_issue | 4 |
| container_start_page | 708 |
| container_title | Neurology |
| container_volume | 57 |
| creator | GAMBARDELLA, A MUGLIA, M ZAPPIA, M QUATTRONE, A LABATE, A MAGARIELLO, A GABRIELE, A. L MAZZEI, R PIRRITANO, D CONFORTI, F. L PATITUCCI, A VALENTINO, P |
| description | A 9-year-old girl, who had no family history of neurologic diseases in the first-degree relatives, had a 3-year history of progressive myoclonus epilepsy (PME). A thorough laboratory investigation was normal. As two sisters of her paternal grandmother were said to have Huntington's disease (HD), the authors looked for HD and found a CAG repeat expansion of 115 repeats. This diagnosis should be considered in addition to other causes in patients with PME. Moreover, the current case further supports the notion that HD should be considered even when a family history is not obvious. |
| doi_str_mv | 10.1212/WNL.57.4.708 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_71126085</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>71126085</sourcerecordid><originalsourceid>FETCH-LOGICAL-c359t-f0abc3bedddfd3988eb288c20c1e59a16ca0de6c09b1f4edf7ebeef1f595e0b33</originalsourceid><addsrcrecordid>eNpNkM1PwzAMxSMEYmNw44x6QHChJUmbNj2iCRjTBBcQ3KI0caaifoy6nbT_nsAqwcn2889P1iPknNGIccZv359XkciiJMqoPCBTJngapjH_OCRTSrkMY5nJCTlB_KTUL7P8mEyYb5JEplOyXA5baMoKgsXQ9GWz7tvmGgNbImiEYNMBwq8eaPRTu_YCllsI6l1rqrYpTQAbf77B3Sk5crpCOBvrjLw93L_OF-Hq5fFpfrcKTSzyPnRUFyYuwFrrbJxLCQWX0nBqGIhcs9RoaiE1NC-YS8C6DAoAx5zIBdAijmfkau_r3_kaAHtVl2igqnQD7YAqY4ynVAoP3uxB07WIHTi16cpadzvFqPrJTvnslMhUonx2Hr8YfYeiBvsHj2F54HIENBpduU43psR_HEtozuJvIt15dA</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>71126085</pqid></control><display><type>article</type><title>Juvenile Huntington's disease presenting as progressive myoclonic epilepsy</title><source>MEDLINE</source><source>Journals@Ovid Complete</source><source>Alma/SFX Local Collection</source><creator>GAMBARDELLA, A ; MUGLIA, M ; ZAPPIA, M ; QUATTRONE, A ; LABATE, A ; MAGARIELLO, A ; GABRIELE, A. L ; MAZZEI, R ; PIRRITANO, D ; CONFORTI, F. L ; PATITUCCI, A ; VALENTINO, P</creator><creatorcontrib>GAMBARDELLA, A ; MUGLIA, M ; ZAPPIA, M ; QUATTRONE, A ; LABATE, A ; MAGARIELLO, A ; GABRIELE, A. L ; MAZZEI, R ; PIRRITANO, D ; CONFORTI, F. L ; PATITUCCI, A ; VALENTINO, P</creatorcontrib><description>A 9-year-old girl, who had no family history of neurologic diseases in the first-degree relatives, had a 3-year history of progressive myoclonus epilepsy (PME). A thorough laboratory investigation was normal. As two sisters of her paternal grandmother were said to have Huntington's disease (HD), the authors looked for HD and found a CAG repeat expansion of 115 repeats. This diagnosis should be considered in addition to other causes in patients with PME. Moreover, the current case further supports the notion that HD should be considered even when a family history is not obvious.</description><identifier>ISSN: 0028-3878</identifier><identifier>EISSN: 1526-632X</identifier><identifier>DOI: 10.1212/WNL.57.4.708</identifier><identifier>PMID: 11524486</identifier><identifier>CODEN: NEURAI</identifier><language>eng</language><publisher>Hagerstown, MD: Lippincott Williams & Wilkins</publisher><subject>Biological and medical sciences ; Child ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Electroencephalography ; Female ; Humans ; Huntington Disease - diagnosis ; Huntington Disease - genetics ; Huntington Disease - physiopathology ; Medical sciences ; Myoclonic Epilepsies, Progressive - diagnosis ; Myoclonic Epilepsies, Progressive - physiopathology ; Neurology</subject><ispartof>Neurology, 2001-08, Vol.57 (4), p.708-711</ispartof><rights>2001 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c359t-f0abc3bedddfd3988eb288c20c1e59a16ca0de6c09b1f4edf7ebeef1f595e0b33</citedby><cites>FETCH-LOGICAL-c359t-f0abc3bedddfd3988eb288c20c1e59a16ca0de6c09b1f4edf7ebeef1f595e0b33</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1114091$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11524486$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>GAMBARDELLA, A</creatorcontrib><creatorcontrib>MUGLIA, M</creatorcontrib><creatorcontrib>ZAPPIA, M</creatorcontrib><creatorcontrib>QUATTRONE, A</creatorcontrib><creatorcontrib>LABATE, A</creatorcontrib><creatorcontrib>MAGARIELLO, A</creatorcontrib><creatorcontrib>GABRIELE, A. L</creatorcontrib><creatorcontrib>MAZZEI, R</creatorcontrib><creatorcontrib>PIRRITANO, D</creatorcontrib><creatorcontrib>CONFORTI, F. L</creatorcontrib><creatorcontrib>PATITUCCI, A</creatorcontrib><creatorcontrib>VALENTINO, P</creatorcontrib><title>Juvenile Huntington's disease presenting as progressive myoclonic epilepsy</title><title>Neurology</title><addtitle>Neurology</addtitle><description>A 9-year-old girl, who had no family history of neurologic diseases in the first-degree relatives, had a 3-year history of progressive myoclonus epilepsy (PME). A thorough laboratory investigation was normal. As two sisters of her paternal grandmother were said to have Huntington's disease (HD), the authors looked for HD and found a CAG repeat expansion of 115 repeats. This diagnosis should be considered in addition to other causes in patients with PME. Moreover, the current case further supports the notion that HD should be considered even when a family history is not obvious.</description><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Electroencephalography</subject><subject>Female</subject><subject>Humans</subject><subject>Huntington Disease - diagnosis</subject><subject>Huntington Disease - genetics</subject><subject>Huntington Disease - physiopathology</subject><subject>Medical sciences</subject><subject>Myoclonic Epilepsies, Progressive - diagnosis</subject><subject>Myoclonic Epilepsies, Progressive - physiopathology</subject><subject>Neurology</subject><issn>0028-3878</issn><issn>1526-632X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpNkM1PwzAMxSMEYmNw44x6QHChJUmbNj2iCRjTBBcQ3KI0caaifoy6nbT_nsAqwcn2889P1iPknNGIccZv359XkciiJMqoPCBTJngapjH_OCRTSrkMY5nJCTlB_KTUL7P8mEyYb5JEplOyXA5baMoKgsXQ9GWz7tvmGgNbImiEYNMBwq8eaPRTu_YCllsI6l1rqrYpTQAbf77B3Sk5crpCOBvrjLw93L_OF-Hq5fFpfrcKTSzyPnRUFyYuwFrrbJxLCQWX0nBqGIhcs9RoaiE1NC-YS8C6DAoAx5zIBdAijmfkau_r3_kaAHtVl2igqnQD7YAqY4ynVAoP3uxB07WIHTi16cpadzvFqPrJTvnslMhUonx2Hr8YfYeiBvsHj2F54HIENBpduU43psR_HEtozuJvIt15dA</recordid><startdate>20010828</startdate><enddate>20010828</enddate><creator>GAMBARDELLA, A</creator><creator>MUGLIA, M</creator><creator>ZAPPIA, M</creator><creator>QUATTRONE, A</creator><creator>LABATE, A</creator><creator>MAGARIELLO, A</creator><creator>GABRIELE, A. L</creator><creator>MAZZEI, R</creator><creator>PIRRITANO, D</creator><creator>CONFORTI, F. L</creator><creator>PATITUCCI, A</creator><creator>VALENTINO, P</creator><general>Lippincott Williams & Wilkins</general><scope>IQODW</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>7X8</scope></search><sort><creationdate>20010828</creationdate><title>Juvenile Huntington's disease presenting as progressive myoclonic epilepsy</title><author>GAMBARDELLA, A ; MUGLIA, M ; ZAPPIA, M ; QUATTRONE, A ; LABATE, A ; MAGARIELLO, A ; GABRIELE, A. L ; MAZZEI, R ; PIRRITANO, D ; CONFORTI, F. L ; PATITUCCI, A ; VALENTINO, P</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c359t-f0abc3bedddfd3988eb288c20c1e59a16ca0de6c09b1f4edf7ebeef1f595e0b33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Electroencephalography</topic><topic>Female</topic><topic>Humans</topic><topic>Huntington Disease - diagnosis</topic><topic>Huntington Disease - genetics</topic><topic>Huntington Disease - physiopathology</topic><topic>Medical sciences</topic><topic>Myoclonic Epilepsies, Progressive - diagnosis</topic><topic>Myoclonic Epilepsies, Progressive - physiopathology</topic><topic>Neurology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>GAMBARDELLA, A</creatorcontrib><creatorcontrib>MUGLIA, M</creatorcontrib><creatorcontrib>ZAPPIA, M</creatorcontrib><creatorcontrib>QUATTRONE, A</creatorcontrib><creatorcontrib>LABATE, A</creatorcontrib><creatorcontrib>MAGARIELLO, A</creatorcontrib><creatorcontrib>GABRIELE, A. L</creatorcontrib><creatorcontrib>MAZZEI, R</creatorcontrib><creatorcontrib>PIRRITANO, D</creatorcontrib><creatorcontrib>CONFORTI, F. L</creatorcontrib><creatorcontrib>PATITUCCI, A</creatorcontrib><creatorcontrib>VALENTINO, P</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>GAMBARDELLA, A</au><au>MUGLIA, M</au><au>ZAPPIA, M</au><au>QUATTRONE, A</au><au>LABATE, A</au><au>MAGARIELLO, A</au><au>GABRIELE, A. L</au><au>MAZZEI, R</au><au>PIRRITANO, D</au><au>CONFORTI, F. L</au><au>PATITUCCI, A</au><au>VALENTINO, P</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Juvenile Huntington's disease presenting as progressive myoclonic epilepsy</atitle><jtitle>Neurology</jtitle><addtitle>Neurology</addtitle><date>2001-08-28</date><risdate>2001</risdate><volume>57</volume><issue>4</issue><spage>708</spage><epage>711</epage><pages>708-711</pages><issn>0028-3878</issn><eissn>1526-632X</eissn><coden>NEURAI</coden><abstract>A 9-year-old girl, who had no family history of neurologic diseases in the first-degree relatives, had a 3-year history of progressive myoclonus epilepsy (PME). A thorough laboratory investigation was normal. As two sisters of her paternal grandmother were said to have Huntington's disease (HD), the authors looked for HD and found a CAG repeat expansion of 115 repeats. This diagnosis should be considered in addition to other causes in patients with PME. Moreover, the current case further supports the notion that HD should be considered even when a family history is not obvious.</abstract><cop>Hagerstown, MD</cop><pub>Lippincott Williams & Wilkins</pub><pmid>11524486</pmid><doi>10.1212/WNL.57.4.708</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0028-3878 |
| ispartof | Neurology, 2001-08, Vol.57 (4), p.708-711 |
| issn | 0028-3878 1526-632X |
| language | eng |
| recordid | cdi_proquest_miscellaneous_71126085 |
| source | MEDLINE; Journals@Ovid Complete; Alma/SFX Local Collection |
| subjects | Biological and medical sciences Child Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Electroencephalography Female Humans Huntington Disease - diagnosis Huntington Disease - genetics Huntington Disease - physiopathology Medical sciences Myoclonic Epilepsies, Progressive - diagnosis Myoclonic Epilepsies, Progressive - physiopathology Neurology |
| title | Juvenile Huntington's disease presenting as progressive myoclonic epilepsy |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-19T20%3A32%3A28IST&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=Juvenile%20Huntington's%20disease%20presenting%20as%20progressive%20myoclonic%20epilepsy&rft.jtitle=Neurology&rft.au=GAMBARDELLA,%20A&rft.date=2001-08-28&rft.volume=57&rft.issue=4&rft.spage=708&rft.epage=711&rft.pages=708-711&rft.issn=0028-3878&rft.eissn=1526-632X&rft.coden=NEURAI&rft_id=info:doi/10.1212/WNL.57.4.708&rft_dat=%3Cproquest_cross%3E71126085%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=71126085&rft_id=info:pmid/11524486&rfr_iscdi=true |