Myoclonus in mitochondrial disorders
ABSTRACT Myoclonus is a possible manifestation of mitochondrial disorders, and its presence is considered, in association with epilepsy and the ragged red fibers, pivotal for the syndromic diagnosis of MERRF (myoclonic epilepsy with ragged red fibers). However, its prevalence in mitochondrial diseas...
Gespeichert in:
| Veröffentlicht in: | Movement disorders 2014-05, Vol.29 (6), p.722-728 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 728 |
|---|---|
| container_issue | 6 |
| container_start_page | 722 |
| container_title | Movement disorders |
| container_volume | 29 |
| creator | Mancuso, Michelangelo Orsucci, Daniele Angelini, Corrado Bertini, Enrico Catteruccia, Michela Pegoraro, Elena Carelli, Valerio Valentino, Maria L. Comi, Giacomo P. Minetti, Carlo Bruno, Claudio Moggio, Maurizio Ienco, Elena Caldarazzo Mongini, Tiziana Vercelli, Liliana Primiano, Guido Servidei, Serenella Tonin, Paola Scarpelli, Mauro Toscano, Antonio Musumeci, Olimpia Moroni, Isabella Uziel, Graziella Santorelli, Filippo M. Nesti, Claudia Filosto, Massimiliano Lamperti, Costanza Zeviani, Massimo Siciliano, Gabriele |
| description | ABSTRACT
Myoclonus is a possible manifestation of mitochondrial disorders, and its presence is considered, in association with epilepsy and the ragged red fibers, pivotal for the syndromic diagnosis of MERRF (myoclonic epilepsy with ragged red fibers). However, its prevalence in mitochondrial diseases is not known. The aims of this study are the evaluation of the prevalence of myoclonus in a big cohort of mitochondrial patients and the clinical characterization of these subjects. Based on the database of the “Nation‐wide Italian Collaborative Network of Mitochondrial Diseases,” we reviewed the clinical and molecular data of mitochondrial patients with myoclonus among their clinical features. Myoclonus is a rather uncommon clinical feature of mitochondrial diseases (3.6% of 1,086 patients registered in our database). It is not strictly linked to a specific genotype or phenotype, and only 1 of 3 patients with MERRF harbors the 8344A>G mutation (frequently labeled as “the MERRF mutation”). Finally, myoclonus is not inextricably linked to epilepsy in MERRF patients, but more to cerebellar ataxia. In a myoclonic patient, evidences of mitochondrial dysfunction must be investigated, even though myoclonus is not a common sign of mitochondriopathy. Clinical, histological, and biochemical data may predict the finding of a mitochondrial or nuclear DNA mutation. Finally, this study reinforces the notion that myoclonus is not inextricably linked to epilepsy in MERRF patients, and therefore the term “myoclonic epilepsy” seems inadequate and potentially misleading. © 2014 International Parkinson and Movement Disorder Society |
| doi_str_mv | 10.1002/mds.25839 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1521912755</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1521912755</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3919-dda86eecff4973a71dddc8a29f563cb10f7fb6d0f404828ff71fe8323641f4e63</originalsourceid><addsrcrecordid>eNp10D1PwzAQBmALgWgpDPwBVAkGGNL6_BE7IypQQBQGQJVYrDS2RUoSF7sR9N-T0o8BiemW517dvQgdA-4BxqRf6tAjXNJkB7WBU4gk4WIXtbGUPKIgeQsdhDDFGIBDvI9ahHHAjJE2OhstXFa4qg7dvOqW-dxl767SPk-Lrs6D89r4cIj2bFoEc7SeHfR6c_0yuI0enoZ3g8uHKKMJJJHWqYyNyaxliaCpAK11JlOSWB7TbALYCjuJNbYMM0mktQKskZTQmIFlJqYddL7KnXn3WZswV2UeMlMUaWVcHRRwAgkQwXlDT__Qqat91Vy3VM3jBAvSqIuVyrwLwRurZj4vU79QgNWyOtVUp36ra-zJOrGelEZv5aarBvRX4CsvzOL_JDW6et5ERquNPMzN93Yj9R8qFlRwNX4cqvu3RBBJxorSH8yuhW4</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1520882072</pqid></control><display><type>article</type><title>Myoclonus in mitochondrial disorders</title><source>MEDLINE</source><source>Access via Wiley Online Library</source><creator>Mancuso, Michelangelo ; Orsucci, Daniele ; Angelini, Corrado ; Bertini, Enrico ; Catteruccia, Michela ; Pegoraro, Elena ; Carelli, Valerio ; Valentino, Maria L. ; Comi, Giacomo P. ; Minetti, Carlo ; Bruno, Claudio ; Moggio, Maurizio ; Ienco, Elena Caldarazzo ; Mongini, Tiziana ; Vercelli, Liliana ; Primiano, Guido ; Servidei, Serenella ; Tonin, Paola ; Scarpelli, Mauro ; Toscano, Antonio ; Musumeci, Olimpia ; Moroni, Isabella ; Uziel, Graziella ; Santorelli, Filippo M. ; Nesti, Claudia ; Filosto, Massimiliano ; Lamperti, Costanza ; Zeviani, Massimo ; Siciliano, Gabriele</creator><creatorcontrib>Mancuso, Michelangelo ; Orsucci, Daniele ; Angelini, Corrado ; Bertini, Enrico ; Catteruccia, Michela ; Pegoraro, Elena ; Carelli, Valerio ; Valentino, Maria L. ; Comi, Giacomo P. ; Minetti, Carlo ; Bruno, Claudio ; Moggio, Maurizio ; Ienco, Elena Caldarazzo ; Mongini, Tiziana ; Vercelli, Liliana ; Primiano, Guido ; Servidei, Serenella ; Tonin, Paola ; Scarpelli, Mauro ; Toscano, Antonio ; Musumeci, Olimpia ; Moroni, Isabella ; Uziel, Graziella ; Santorelli, Filippo M. ; Nesti, Claudia ; Filosto, Massimiliano ; Lamperti, Costanza ; Zeviani, Massimo ; Siciliano, Gabriele</creatorcontrib><description>ABSTRACT
Myoclonus is a possible manifestation of mitochondrial disorders, and its presence is considered, in association with epilepsy and the ragged red fibers, pivotal for the syndromic diagnosis of MERRF (myoclonic epilepsy with ragged red fibers). However, its prevalence in mitochondrial diseases is not known. The aims of this study are the evaluation of the prevalence of myoclonus in a big cohort of mitochondrial patients and the clinical characterization of these subjects. Based on the database of the “Nation‐wide Italian Collaborative Network of Mitochondrial Diseases,” we reviewed the clinical and molecular data of mitochondrial patients with myoclonus among their clinical features. Myoclonus is a rather uncommon clinical feature of mitochondrial diseases (3.6% of 1,086 patients registered in our database). It is not strictly linked to a specific genotype or phenotype, and only 1 of 3 patients with MERRF harbors the 8344A>G mutation (frequently labeled as “the MERRF mutation”). Finally, myoclonus is not inextricably linked to epilepsy in MERRF patients, but more to cerebellar ataxia. In a myoclonic patient, evidences of mitochondrial dysfunction must be investigated, even though myoclonus is not a common sign of mitochondriopathy. Clinical, histological, and biochemical data may predict the finding of a mitochondrial or nuclear DNA mutation. Finally, this study reinforces the notion that myoclonus is not inextricably linked to epilepsy in MERRF patients, and therefore the term “myoclonic epilepsy” seems inadequate and potentially misleading. © 2014 International Parkinson and Movement Disorder Society</description><identifier>ISSN: 0885-3185</identifier><identifier>EISSN: 1531-8257</identifier><identifier>DOI: 10.1002/mds.25839</identifier><identifier>PMID: 24510442</identifier><identifier>CODEN: MOVDEA</identifier><language>eng</language><publisher>United States: Blackwell Publishing Ltd</publisher><subject>8344A>G ; Adolescent ; Adult ; ataxia ; Child ; Child, Preschool ; Cohort Studies ; Female ; Humans ; Italy ; Male ; Middle Aged ; Mitochondrial Diseases - complications ; Movement disorders ; mtDNA ; myoclonic epilepsy ; myoclonus ; Myoclonus - epidemiology ; Myoclonus - etiology ; Severity of Illness Index ; Young Adult</subject><ispartof>Movement disorders, 2014-05, Vol.29 (6), p.722-728</ispartof><rights>2014 International Parkinson and Movement Disorder Society</rights><rights>2014 International Parkinson and Movement Disorder Society.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3919-dda86eecff4973a71dddc8a29f563cb10f7fb6d0f404828ff71fe8323641f4e63</citedby><cites>FETCH-LOGICAL-c3919-dda86eecff4973a71dddc8a29f563cb10f7fb6d0f404828ff71fe8323641f4e63</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fmds.25839$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fmds.25839$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24510442$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mancuso, Michelangelo</creatorcontrib><creatorcontrib>Orsucci, Daniele</creatorcontrib><creatorcontrib>Angelini, Corrado</creatorcontrib><creatorcontrib>Bertini, Enrico</creatorcontrib><creatorcontrib>Catteruccia, Michela</creatorcontrib><creatorcontrib>Pegoraro, Elena</creatorcontrib><creatorcontrib>Carelli, Valerio</creatorcontrib><creatorcontrib>Valentino, Maria L.</creatorcontrib><creatorcontrib>Comi, Giacomo P.</creatorcontrib><creatorcontrib>Minetti, Carlo</creatorcontrib><creatorcontrib>Bruno, Claudio</creatorcontrib><creatorcontrib>Moggio, Maurizio</creatorcontrib><creatorcontrib>Ienco, Elena Caldarazzo</creatorcontrib><creatorcontrib>Mongini, Tiziana</creatorcontrib><creatorcontrib>Vercelli, Liliana</creatorcontrib><creatorcontrib>Primiano, Guido</creatorcontrib><creatorcontrib>Servidei, Serenella</creatorcontrib><creatorcontrib>Tonin, Paola</creatorcontrib><creatorcontrib>Scarpelli, Mauro</creatorcontrib><creatorcontrib>Toscano, Antonio</creatorcontrib><creatorcontrib>Musumeci, Olimpia</creatorcontrib><creatorcontrib>Moroni, Isabella</creatorcontrib><creatorcontrib>Uziel, Graziella</creatorcontrib><creatorcontrib>Santorelli, Filippo M.</creatorcontrib><creatorcontrib>Nesti, Claudia</creatorcontrib><creatorcontrib>Filosto, Massimiliano</creatorcontrib><creatorcontrib>Lamperti, Costanza</creatorcontrib><creatorcontrib>Zeviani, Massimo</creatorcontrib><creatorcontrib>Siciliano, Gabriele</creatorcontrib><title>Myoclonus in mitochondrial disorders</title><title>Movement disorders</title><addtitle>Mov Disord</addtitle><description>ABSTRACT
Myoclonus is a possible manifestation of mitochondrial disorders, and its presence is considered, in association with epilepsy and the ragged red fibers, pivotal for the syndromic diagnosis of MERRF (myoclonic epilepsy with ragged red fibers). However, its prevalence in mitochondrial diseases is not known. The aims of this study are the evaluation of the prevalence of myoclonus in a big cohort of mitochondrial patients and the clinical characterization of these subjects. Based on the database of the “Nation‐wide Italian Collaborative Network of Mitochondrial Diseases,” we reviewed the clinical and molecular data of mitochondrial patients with myoclonus among their clinical features. Myoclonus is a rather uncommon clinical feature of mitochondrial diseases (3.6% of 1,086 patients registered in our database). It is not strictly linked to a specific genotype or phenotype, and only 1 of 3 patients with MERRF harbors the 8344A>G mutation (frequently labeled as “the MERRF mutation”). Finally, myoclonus is not inextricably linked to epilepsy in MERRF patients, but more to cerebellar ataxia. In a myoclonic patient, evidences of mitochondrial dysfunction must be investigated, even though myoclonus is not a common sign of mitochondriopathy. Clinical, histological, and biochemical data may predict the finding of a mitochondrial or nuclear DNA mutation. Finally, this study reinforces the notion that myoclonus is not inextricably linked to epilepsy in MERRF patients, and therefore the term “myoclonic epilepsy” seems inadequate and potentially misleading. © 2014 International Parkinson and Movement Disorder Society</description><subject>8344A>G</subject><subject>Adolescent</subject><subject>Adult</subject><subject>ataxia</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Cohort Studies</subject><subject>Female</subject><subject>Humans</subject><subject>Italy</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Mitochondrial Diseases - complications</subject><subject>Movement disorders</subject><subject>mtDNA</subject><subject>myoclonic epilepsy</subject><subject>myoclonus</subject><subject>Myoclonus - epidemiology</subject><subject>Myoclonus - etiology</subject><subject>Severity of Illness Index</subject><subject>Young Adult</subject><issn>0885-3185</issn><issn>1531-8257</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp10D1PwzAQBmALgWgpDPwBVAkGGNL6_BE7IypQQBQGQJVYrDS2RUoSF7sR9N-T0o8BiemW517dvQgdA-4BxqRf6tAjXNJkB7WBU4gk4WIXtbGUPKIgeQsdhDDFGIBDvI9ahHHAjJE2OhstXFa4qg7dvOqW-dxl767SPk-Lrs6D89r4cIj2bFoEc7SeHfR6c_0yuI0enoZ3g8uHKKMJJJHWqYyNyaxliaCpAK11JlOSWB7TbALYCjuJNbYMM0mktQKskZTQmIFlJqYddL7KnXn3WZswV2UeMlMUaWVcHRRwAgkQwXlDT__Qqat91Vy3VM3jBAvSqIuVyrwLwRurZj4vU79QgNWyOtVUp36ra-zJOrGelEZv5aarBvRX4CsvzOL_JDW6et5ERquNPMzN93Yj9R8qFlRwNX4cqvu3RBBJxorSH8yuhW4</recordid><startdate>201405</startdate><enddate>201405</enddate><creator>Mancuso, Michelangelo</creator><creator>Orsucci, Daniele</creator><creator>Angelini, Corrado</creator><creator>Bertini, Enrico</creator><creator>Catteruccia, Michela</creator><creator>Pegoraro, Elena</creator><creator>Carelli, Valerio</creator><creator>Valentino, Maria L.</creator><creator>Comi, Giacomo P.</creator><creator>Minetti, Carlo</creator><creator>Bruno, Claudio</creator><creator>Moggio, Maurizio</creator><creator>Ienco, Elena Caldarazzo</creator><creator>Mongini, Tiziana</creator><creator>Vercelli, Liliana</creator><creator>Primiano, Guido</creator><creator>Servidei, Serenella</creator><creator>Tonin, Paola</creator><creator>Scarpelli, Mauro</creator><creator>Toscano, Antonio</creator><creator>Musumeci, Olimpia</creator><creator>Moroni, Isabella</creator><creator>Uziel, Graziella</creator><creator>Santorelli, Filippo M.</creator><creator>Nesti, Claudia</creator><creator>Filosto, Massimiliano</creator><creator>Lamperti, Costanza</creator><creator>Zeviani, Massimo</creator><creator>Siciliano, Gabriele</creator><general>Blackwell Publishing Ltd</general><general>Wiley Subscription Services, Inc</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>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201405</creationdate><title>Myoclonus in mitochondrial disorders</title><author>Mancuso, Michelangelo ; Orsucci, Daniele ; Angelini, Corrado ; Bertini, Enrico ; Catteruccia, Michela ; Pegoraro, Elena ; Carelli, Valerio ; Valentino, Maria L. ; Comi, Giacomo P. ; Minetti, Carlo ; Bruno, Claudio ; Moggio, Maurizio ; Ienco, Elena Caldarazzo ; Mongini, Tiziana ; Vercelli, Liliana ; Primiano, Guido ; Servidei, Serenella ; Tonin, Paola ; Scarpelli, Mauro ; Toscano, Antonio ; Musumeci, Olimpia ; Moroni, Isabella ; Uziel, Graziella ; Santorelli, Filippo M. ; Nesti, Claudia ; Filosto, Massimiliano ; Lamperti, Costanza ; Zeviani, Massimo ; Siciliano, Gabriele</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3919-dda86eecff4973a71dddc8a29f563cb10f7fb6d0f404828ff71fe8323641f4e63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>8344A>G</topic><topic>Adolescent</topic><topic>Adult</topic><topic>ataxia</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Cohort Studies</topic><topic>Female</topic><topic>Humans</topic><topic>Italy</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Mitochondrial Diseases - complications</topic><topic>Movement disorders</topic><topic>mtDNA</topic><topic>myoclonic epilepsy</topic><topic>myoclonus</topic><topic>Myoclonus - epidemiology</topic><topic>Myoclonus - etiology</topic><topic>Severity of Illness Index</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mancuso, Michelangelo</creatorcontrib><creatorcontrib>Orsucci, Daniele</creatorcontrib><creatorcontrib>Angelini, Corrado</creatorcontrib><creatorcontrib>Bertini, Enrico</creatorcontrib><creatorcontrib>Catteruccia, Michela</creatorcontrib><creatorcontrib>Pegoraro, Elena</creatorcontrib><creatorcontrib>Carelli, Valerio</creatorcontrib><creatorcontrib>Valentino, Maria L.</creatorcontrib><creatorcontrib>Comi, Giacomo P.</creatorcontrib><creatorcontrib>Minetti, Carlo</creatorcontrib><creatorcontrib>Bruno, Claudio</creatorcontrib><creatorcontrib>Moggio, Maurizio</creatorcontrib><creatorcontrib>Ienco, Elena Caldarazzo</creatorcontrib><creatorcontrib>Mongini, Tiziana</creatorcontrib><creatorcontrib>Vercelli, Liliana</creatorcontrib><creatorcontrib>Primiano, Guido</creatorcontrib><creatorcontrib>Servidei, Serenella</creatorcontrib><creatorcontrib>Tonin, Paola</creatorcontrib><creatorcontrib>Scarpelli, Mauro</creatorcontrib><creatorcontrib>Toscano, Antonio</creatorcontrib><creatorcontrib>Musumeci, Olimpia</creatorcontrib><creatorcontrib>Moroni, Isabella</creatorcontrib><creatorcontrib>Uziel, Graziella</creatorcontrib><creatorcontrib>Santorelli, Filippo M.</creatorcontrib><creatorcontrib>Nesti, Claudia</creatorcontrib><creatorcontrib>Filosto, Massimiliano</creatorcontrib><creatorcontrib>Lamperti, Costanza</creatorcontrib><creatorcontrib>Zeviani, Massimo</creatorcontrib><creatorcontrib>Siciliano, Gabriele</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>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Movement disorders</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mancuso, Michelangelo</au><au>Orsucci, Daniele</au><au>Angelini, Corrado</au><au>Bertini, Enrico</au><au>Catteruccia, Michela</au><au>Pegoraro, Elena</au><au>Carelli, Valerio</au><au>Valentino, Maria L.</au><au>Comi, Giacomo P.</au><au>Minetti, Carlo</au><au>Bruno, Claudio</au><au>Moggio, Maurizio</au><au>Ienco, Elena Caldarazzo</au><au>Mongini, Tiziana</au><au>Vercelli, Liliana</au><au>Primiano, Guido</au><au>Servidei, Serenella</au><au>Tonin, Paola</au><au>Scarpelli, Mauro</au><au>Toscano, Antonio</au><au>Musumeci, Olimpia</au><au>Moroni, Isabella</au><au>Uziel, Graziella</au><au>Santorelli, Filippo M.</au><au>Nesti, Claudia</au><au>Filosto, Massimiliano</au><au>Lamperti, Costanza</au><au>Zeviani, Massimo</au><au>Siciliano, Gabriele</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Myoclonus in mitochondrial disorders</atitle><jtitle>Movement disorders</jtitle><addtitle>Mov Disord</addtitle><date>2014-05</date><risdate>2014</risdate><volume>29</volume><issue>6</issue><spage>722</spage><epage>728</epage><pages>722-728</pages><issn>0885-3185</issn><eissn>1531-8257</eissn><coden>MOVDEA</coden><abstract>ABSTRACT
Myoclonus is a possible manifestation of mitochondrial disorders, and its presence is considered, in association with epilepsy and the ragged red fibers, pivotal for the syndromic diagnosis of MERRF (myoclonic epilepsy with ragged red fibers). However, its prevalence in mitochondrial diseases is not known. The aims of this study are the evaluation of the prevalence of myoclonus in a big cohort of mitochondrial patients and the clinical characterization of these subjects. Based on the database of the “Nation‐wide Italian Collaborative Network of Mitochondrial Diseases,” we reviewed the clinical and molecular data of mitochondrial patients with myoclonus among their clinical features. Myoclonus is a rather uncommon clinical feature of mitochondrial diseases (3.6% of 1,086 patients registered in our database). It is not strictly linked to a specific genotype or phenotype, and only 1 of 3 patients with MERRF harbors the 8344A>G mutation (frequently labeled as “the MERRF mutation”). Finally, myoclonus is not inextricably linked to epilepsy in MERRF patients, but more to cerebellar ataxia. In a myoclonic patient, evidences of mitochondrial dysfunction must be investigated, even though myoclonus is not a common sign of mitochondriopathy. Clinical, histological, and biochemical data may predict the finding of a mitochondrial or nuclear DNA mutation. Finally, this study reinforces the notion that myoclonus is not inextricably linked to epilepsy in MERRF patients, and therefore the term “myoclonic epilepsy” seems inadequate and potentially misleading. © 2014 International Parkinson and Movement Disorder Society</abstract><cop>United States</cop><pub>Blackwell Publishing Ltd</pub><pmid>24510442</pmid><doi>10.1002/mds.25839</doi><tpages>7</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0885-3185 |
| ispartof | Movement disorders, 2014-05, Vol.29 (6), p.722-728 |
| issn | 0885-3185 1531-8257 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1521912755 |
| source | MEDLINE; Access via Wiley Online Library |
| subjects | 8344A>G Adolescent Adult ataxia Child Child, Preschool Cohort Studies Female Humans Italy Male Middle Aged Mitochondrial Diseases - complications Movement disorders mtDNA myoclonic epilepsy myoclonus Myoclonus - epidemiology Myoclonus - etiology Severity of Illness Index Young Adult |
| title | Myoclonus in mitochondrial disorders |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-27T19%3A12%3A58IST&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=Myoclonus%20in%20mitochondrial%20disorders&rft.jtitle=Movement%20disorders&rft.au=Mancuso,%20Michelangelo&rft.date=2014-05&rft.volume=29&rft.issue=6&rft.spage=722&rft.epage=728&rft.pages=722-728&rft.issn=0885-3185&rft.eissn=1531-8257&rft.coden=MOVDEA&rft_id=info:doi/10.1002/mds.25839&rft_dat=%3Cproquest_cross%3E1521912755%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=1520882072&rft_id=info:pmid/24510442&rfr_iscdi=true |