Myoclonus in mitochondrial disorders

Serenella Servidei, Guido Alessandro Primiano, Michelangelo Mancuso, 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, Paola Tonin, Mauro Scarpelli, Antonio ToscanoOlimpia Musumeci, Isabella Moroni, Graziella Uziel, Filippo M. Santorelli, Claudia Nesti, Massimiliano Filosto, Costanza Lamperti, Massimo Zeviani, Gabriele Siciliano

Risultato della ricerca: Contributo in rivistaArticolo in rivista

26 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)722-728
Numero di pagine7
RivistaMovement Disorders
Volume2014
DOI
Stato di pubblicazionePubblicato - 2014

Keywords

  • 8344A>G
  • ataxia
  • mtDNA
  • myoclonic epilepsy
  • myoclonus

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