Myoclonus in mitochondrial disorders.
Identifieur interne : 000506 ( Main/Exploration ); précédent : 000505; suivant : 000507Myoclonus in mitochondrial disorders.
Auteurs : Michelangelo Mancuso [Italie] ; Daniele Orsucci ; Corrado Angelini ; Enrico Bertini ; Michela Catteruccia ; Elena Pegoraro ; Valerio Carelli ; Maria L. Valentino ; Giacomo P. Comi ; Carlo Minetti ; Claudio Bruno ; Maurizio Moggio ; Elena Caldarazzo Ienco ; Tiziana Mongini ; Liliana Vercelli ; Guido Primiano ; Serenella Servidei ; Paola Tonin ; Mauro Scarpelli ; Antonio Toscano ; Olimpia Musumeci ; Isabella Moroni ; Graziella Uziel ; Filippo M. Santorelli ; Claudia Nesti ; Massimiliano Filosto ; Costanza Lamperti ; Massimo Zeviani ; Gabriele SicilianoSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.
Descripteurs français
- Wicri :
- geographic : Italie.
English descriptors
- KwdEn :
- MESH :
- geographic : Italy.
- complications : Mitochondrial Diseases.
- epidemiology : Myoclonus.
- etiology : Myoclonus.
- Adolescent, Adult, Child, Child, Preschool, Cohort Studies, Female, Humans, Male, Middle Aged, Severity of Illness Index, Young Adult.
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.
DOI: 10.1002/mds.25839
PubMed: 24510442
Affiliations:
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Valentino</name></author><author><name sortKey="Comi, Giacomo P" sort="Comi, Giacomo P" uniqKey="Comi G" first="Giacomo P" last="Comi">Giacomo P. Comi</name></author><author><name sortKey="Minetti, Carlo" sort="Minetti, Carlo" uniqKey="Minetti C" first="Carlo" last="Minetti">Carlo Minetti</name></author><author><name sortKey="Bruno, Claudio" sort="Bruno, Claudio" uniqKey="Bruno C" first="Claudio" last="Bruno">Claudio Bruno</name></author><author><name sortKey="Moggio, Maurizio" sort="Moggio, Maurizio" uniqKey="Moggio M" first="Maurizio" last="Moggio">Maurizio Moggio</name></author><author><name sortKey="Ienco, Elena Caldarazzo" sort="Ienco, Elena Caldarazzo" uniqKey="Ienco E" first="Elena Caldarazzo" last="Ienco">Elena Caldarazzo Ienco</name></author><author><name sortKey="Mongini, Tiziana" sort="Mongini, Tiziana" uniqKey="Mongini T" first="Tiziana" last="Mongini">Tiziana Mongini</name></author><author><name sortKey="Vercelli, Liliana" sort="Vercelli, Liliana" uniqKey="Vercelli L" first="Liliana" last="Vercelli">Liliana Vercelli</name></author><author><name sortKey="Primiano, Guido" sort="Primiano, Guido" uniqKey="Primiano G" first="Guido" last="Primiano">Guido Primiano</name></author><author><name sortKey="Servidei, Serenella" sort="Servidei, Serenella" uniqKey="Servidei S" first="Serenella" last="Servidei">Serenella Servidei</name></author><author><name sortKey="Tonin, Paola" sort="Tonin, Paola" uniqKey="Tonin P" first="Paola" last="Tonin">Paola Tonin</name></author><author><name sortKey="Scarpelli, Mauro" sort="Scarpelli, Mauro" uniqKey="Scarpelli M" first="Mauro" last="Scarpelli">Mauro Scarpelli</name></author><author><name sortKey="Toscano, Antonio" sort="Toscano, Antonio" uniqKey="Toscano A" first="Antonio" last="Toscano">Antonio Toscano</name></author><author><name sortKey="Musumeci, Olimpia" sort="Musumeci, Olimpia" uniqKey="Musumeci O" first="Olimpia" last="Musumeci">Olimpia Musumeci</name></author><author><name sortKey="Moroni, Isabella" sort="Moroni, Isabella" uniqKey="Moroni I" first="Isabella" last="Moroni">Isabella Moroni</name></author><author><name sortKey="Uziel, Graziella" sort="Uziel, Graziella" uniqKey="Uziel G" first="Graziella" last="Uziel">Graziella Uziel</name></author><author><name sortKey="Santorelli, Filippo M" sort="Santorelli, Filippo M" uniqKey="Santorelli F" first="Filippo M" last="Santorelli">Filippo M. Santorelli</name></author><author><name sortKey="Nesti, Claudia" sort="Nesti, Claudia" uniqKey="Nesti C" first="Claudia" last="Nesti">Claudia Nesti</name></author><author><name sortKey="Filosto, Massimiliano" sort="Filosto, Massimiliano" uniqKey="Filosto M" first="Massimiliano" last="Filosto">Massimiliano Filosto</name></author><author><name sortKey="Lamperti, Costanza" sort="Lamperti, Costanza" uniqKey="Lamperti C" first="Costanza" last="Lamperti">Costanza Lamperti</name></author><author><name sortKey="Zeviani, Massimo" sort="Zeviani, Massimo" uniqKey="Zeviani M" first="Massimo" last="Zeviani">Massimo Zeviani</name></author><author><name sortKey="Siciliano, Gabriele" sort="Siciliano, Gabriele" uniqKey="Siciliano G" first="Gabriele" last="Siciliano">Gabriele Siciliano</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:24510442</idno><idno type="pmid">24510442</idno><idno type="doi">10.1002/mds.25839</idno><idno type="wicri:Area/PubMed/Corpus">000587</idno><idno type="wicri:Area/PubMed/Curation">000587</idno><idno type="wicri:Area/PubMed/Checkpoint">000514</idno><idno type="wicri:Area/Ncbi/Merge">003F10</idno><idno type="wicri:Area/Ncbi/Curation">003F10</idno><idno type="wicri:Area/Ncbi/Checkpoint">003F10</idno><idno type="wicri:Area/Main/Merge">000506</idno><idno type="wicri:Area/Main/Curation">000506</idno><idno type="wicri:Area/Main/Exploration">000506</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Myoclonus in mitochondrial disorders.</title><author><name sortKey="Mancuso, Michelangelo" sort="Mancuso, Michelangelo" uniqKey="Mancuso M" first="Michelangelo" last="Mancuso">Michelangelo Mancuso</name><affiliation wicri:level="1"><nlm:affiliation>Neurological Clinic, University of Pisa, Pisa, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Neurological Clinic, University of Pisa, Pisa</wicri:regionArea><wicri:noRegion>Pisa</wicri:noRegion></affiliation></author><author><name sortKey="Orsucci, Daniele" sort="Orsucci, Daniele" uniqKey="Orsucci D" first="Daniele" last="Orsucci">Daniele Orsucci</name></author><author><name sortKey="Angelini, Corrado" sort="Angelini, Corrado" uniqKey="Angelini C" first="Corrado" last="Angelini">Corrado Angelini</name></author><author><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name></author><author><name sortKey="Catteruccia, Michela" sort="Catteruccia, Michela" uniqKey="Catteruccia M" first="Michela" last="Catteruccia">Michela Catteruccia</name></author><author><name sortKey="Pegoraro, Elena" sort="Pegoraro, Elena" uniqKey="Pegoraro E" first="Elena" last="Pegoraro">Elena Pegoraro</name></author><author><name sortKey="Carelli, Valerio" sort="Carelli, Valerio" uniqKey="Carelli V" first="Valerio" last="Carelli">Valerio Carelli</name></author><author><name sortKey="Valentino, Maria L" sort="Valentino, Maria L" uniqKey="Valentino M" first="Maria L" last="Valentino">Maria L. Valentino</name></author><author><name sortKey="Comi, Giacomo P" sort="Comi, Giacomo P" uniqKey="Comi G" first="Giacomo P" last="Comi">Giacomo P. Comi</name></author><author><name sortKey="Minetti, Carlo" sort="Minetti, Carlo" uniqKey="Minetti C" first="Carlo" last="Minetti">Carlo Minetti</name></author><author><name sortKey="Bruno, Claudio" sort="Bruno, Claudio" uniqKey="Bruno C" first="Claudio" last="Bruno">Claudio Bruno</name></author><author><name sortKey="Moggio, Maurizio" sort="Moggio, Maurizio" uniqKey="Moggio M" first="Maurizio" last="Moggio">Maurizio Moggio</name></author><author><name sortKey="Ienco, Elena Caldarazzo" sort="Ienco, Elena Caldarazzo" uniqKey="Ienco E" first="Elena Caldarazzo" last="Ienco">Elena Caldarazzo Ienco</name></author><author><name sortKey="Mongini, Tiziana" sort="Mongini, Tiziana" uniqKey="Mongini T" first="Tiziana" last="Mongini">Tiziana Mongini</name></author><author><name sortKey="Vercelli, Liliana" sort="Vercelli, Liliana" uniqKey="Vercelli L" first="Liliana" last="Vercelli">Liliana Vercelli</name></author><author><name sortKey="Primiano, Guido" sort="Primiano, Guido" uniqKey="Primiano G" first="Guido" last="Primiano">Guido Primiano</name></author><author><name sortKey="Servidei, Serenella" sort="Servidei, Serenella" uniqKey="Servidei S" first="Serenella" last="Servidei">Serenella Servidei</name></author><author><name sortKey="Tonin, Paola" sort="Tonin, Paola" uniqKey="Tonin P" first="Paola" last="Tonin">Paola Tonin</name></author><author><name sortKey="Scarpelli, Mauro" sort="Scarpelli, Mauro" uniqKey="Scarpelli M" first="Mauro" last="Scarpelli">Mauro Scarpelli</name></author><author><name sortKey="Toscano, Antonio" sort="Toscano, Antonio" uniqKey="Toscano A" first="Antonio" last="Toscano">Antonio Toscano</name></author><author><name sortKey="Musumeci, Olimpia" sort="Musumeci, Olimpia" uniqKey="Musumeci O" first="Olimpia" last="Musumeci">Olimpia Musumeci</name></author><author><name sortKey="Moroni, Isabella" sort="Moroni, Isabella" uniqKey="Moroni I" first="Isabella" last="Moroni">Isabella Moroni</name></author><author><name sortKey="Uziel, Graziella" sort="Uziel, Graziella" uniqKey="Uziel G" first="Graziella" last="Uziel">Graziella Uziel</name></author><author><name sortKey="Santorelli, Filippo M" sort="Santorelli, Filippo M" uniqKey="Santorelli F" first="Filippo M" last="Santorelli">Filippo M. Santorelli</name></author><author><name sortKey="Nesti, Claudia" sort="Nesti, Claudia" uniqKey="Nesti C" first="Claudia" last="Nesti">Claudia Nesti</name></author><author><name sortKey="Filosto, Massimiliano" sort="Filosto, Massimiliano" uniqKey="Filosto M" first="Massimiliano" last="Filosto">Massimiliano Filosto</name></author><author><name sortKey="Lamperti, Costanza" sort="Lamperti, Costanza" uniqKey="Lamperti C" first="Costanza" last="Lamperti">Costanza Lamperti</name></author><author><name sortKey="Zeviani, Massimo" sort="Zeviani, Massimo" uniqKey="Zeviani M" first="Massimo" last="Zeviani">Massimo Zeviani</name></author><author><name sortKey="Siciliano, Gabriele" sort="Siciliano, Gabriele" uniqKey="Siciliano G" first="Gabriele" last="Siciliano">Gabriele Siciliano</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>Cohort Studies</term><term>Female</term><term>Humans</term><term>Italy</term><term>Male</term><term>Middle Aged</term><term>Mitochondrial Diseases (complications)</term><term>Myoclonus (epidemiology)</term><term>Myoclonus (etiology)</term><term>Severity of Illness Index</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Italy</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Mitochondrial Diseases</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Myoclonus</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Myoclonus</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>Cohort Studies</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Severity of Illness Index</term><term>Young Adult</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Italie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><affiliations><list><country><li>Italie</li></country></list><tree><noCountry><name sortKey="Angelini, Corrado" sort="Angelini, Corrado" uniqKey="Angelini C" first="Corrado" last="Angelini">Corrado Angelini</name><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name><name sortKey="Bruno, Claudio" sort="Bruno, Claudio" uniqKey="Bruno C" first="Claudio" last="Bruno">Claudio Bruno</name><name sortKey="Carelli, Valerio" sort="Carelli, Valerio" uniqKey="Carelli V" first="Valerio" last="Carelli">Valerio Carelli</name><name sortKey="Catteruccia, Michela" sort="Catteruccia, Michela" uniqKey="Catteruccia M" first="Michela" last="Catteruccia">Michela Catteruccia</name><name sortKey="Comi, Giacomo P" sort="Comi, Giacomo P" uniqKey="Comi G" first="Giacomo P" last="Comi">Giacomo P. Comi</name><name sortKey="Filosto, Massimiliano" sort="Filosto, Massimiliano" uniqKey="Filosto M" first="Massimiliano" last="Filosto">Massimiliano Filosto</name><name sortKey="Ienco, Elena Caldarazzo" sort="Ienco, Elena Caldarazzo" uniqKey="Ienco E" first="Elena Caldarazzo" last="Ienco">Elena Caldarazzo Ienco</name><name sortKey="Lamperti, Costanza" sort="Lamperti, Costanza" uniqKey="Lamperti C" first="Costanza" last="Lamperti">Costanza Lamperti</name><name sortKey="Minetti, Carlo" sort="Minetti, Carlo" uniqKey="Minetti C" first="Carlo" last="Minetti">Carlo Minetti</name><name sortKey="Moggio, Maurizio" sort="Moggio, Maurizio" uniqKey="Moggio M" first="Maurizio" last="Moggio">Maurizio Moggio</name><name sortKey="Mongini, Tiziana" sort="Mongini, Tiziana" uniqKey="Mongini T" first="Tiziana" last="Mongini">Tiziana Mongini</name><name sortKey="Moroni, Isabella" sort="Moroni, Isabella" uniqKey="Moroni I" first="Isabella" last="Moroni">Isabella Moroni</name><name sortKey="Musumeci, Olimpia" sort="Musumeci, Olimpia" uniqKey="Musumeci O" first="Olimpia" last="Musumeci">Olimpia Musumeci</name><name sortKey="Nesti, Claudia" sort="Nesti, Claudia" uniqKey="Nesti C" first="Claudia" last="Nesti">Claudia Nesti</name><name sortKey="Orsucci, Daniele" sort="Orsucci, Daniele" uniqKey="Orsucci D" first="Daniele" last="Orsucci">Daniele Orsucci</name><name sortKey="Pegoraro, Elena" sort="Pegoraro, Elena" uniqKey="Pegoraro E" first="Elena" last="Pegoraro">Elena Pegoraro</name><name sortKey="Primiano, Guido" sort="Primiano, Guido" uniqKey="Primiano G" first="Guido" last="Primiano">Guido Primiano</name><name sortKey="Santorelli, Filippo M" sort="Santorelli, Filippo M" uniqKey="Santorelli F" first="Filippo M" last="Santorelli">Filippo M. Santorelli</name><name sortKey="Scarpelli, Mauro" sort="Scarpelli, Mauro" uniqKey="Scarpelli M" first="Mauro" last="Scarpelli">Mauro Scarpelli</name><name sortKey="Servidei, Serenella" sort="Servidei, Serenella" uniqKey="Servidei S" first="Serenella" last="Servidei">Serenella Servidei</name><name sortKey="Siciliano, Gabriele" sort="Siciliano, Gabriele" uniqKey="Siciliano G" first="Gabriele" last="Siciliano">Gabriele Siciliano</name><name sortKey="Tonin, Paola" sort="Tonin, Paola" uniqKey="Tonin P" first="Paola" last="Tonin">Paola Tonin</name><name sortKey="Toscano, Antonio" sort="Toscano, Antonio" uniqKey="Toscano A" first="Antonio" last="Toscano">Antonio Toscano</name><name sortKey="Uziel, Graziella" sort="Uziel, Graziella" uniqKey="Uziel G" first="Graziella" last="Uziel">Graziella Uziel</name><name sortKey="Valentino, Maria L" sort="Valentino, Maria L" uniqKey="Valentino M" first="Maria L" last="Valentino">Maria L. Valentino</name><name sortKey="Vercelli, Liliana" sort="Vercelli, Liliana" uniqKey="Vercelli L" first="Liliana" last="Vercelli">Liliana Vercelli</name><name sortKey="Zeviani, Massimo" sort="Zeviani, Massimo" uniqKey="Zeviani M" first="Massimo" last="Zeviani">Massimo Zeviani</name></noCountry><country name="Italie"><noRegion><name sortKey="Mancuso, Michelangelo" sort="Mancuso, Michelangelo" uniqKey="Mancuso M" first="Michelangelo" last="Mancuso">Michelangelo Mancuso</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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