Ganglionopathies Associated with MERRF Syndrome: An Original Report.

Neuropathies in Myoclonic Epilepsy with Ragged Red Fibers (MERRF) syndrome are frequent but ganglionopathies have never been reported. We retrospectively identified 24 patients with MERRF mutations in the neuromuscular center Nord/Est/Ile de France (Pitié-Salpêtrière, Paris, France). Seventeen nerve conduction studies (NCS) were available. Five patients had MERRF syndrome and ganglionopathy, a pure sensory neuropathy. All of them displayed ataxia and mild clinical sensory abnormalities. Ganglionopathies have been reported in mitochondrial diseases but never in MERRF syndrome. We suggest that patients presenting with ganglionopathy, especially if associated with myopathy, lipomatosis or epilepsy, should be screened for MERRF mutations.

[1]  M. Lo Monaco,et al.  Peripheral neuropathy is a common manifestation of mitochondrial diseases: a single‐centre experience , 2016, European journal of neurology.

[2]  H. Prokisch,et al.  Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry , 2016, Journal of Neurology.

[3]  C. Silvado,et al.  When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis? , 2014, Arquivos de neuro-psiquiatria.

[4]  B. Funalot,et al.  Inherited peripheral neuropathies due to mitochondrial disorders. , 2014, Revue neurologique.

[5]  E. Storey,et al.  Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS , 2014, Neurology.

[6]  M. Zeviani,et al.  Peripheral neuropathy in mitochondrial disorders , 2013, The Lancet Neurology.

[7]  G. Comi,et al.  Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation , 2013, Neurology.

[8]  A. Koeppen,et al.  Friedreich ataxia: neuropathology revised. , 2013, Journal of neuropathology and experimental neurology.

[9]  A. Vital,et al.  Mitochondria and peripheral neuropathies. , 2012, Journal of neuropathology and experimental neurology.

[10]  J. Finsterer.  Inherited mitochondrial neuropathies , 2011, Journal of the Neurological Sciences.

[11]  P. Laforêt,et al.  Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA , 2010, Neurology.

[12]  J. Honnorat,et al.  The pattern and diagnostic criteria of sensory neuronopathy: a case–control study , 2009, Brain : a journal of neurology.

[13]  A. Padovani,et al.  Neuropathology of mitochondrial diseases , 2007, Bioscience reports.

[14]  I. Grant,et al.  Multiple lipomas, alcoholism, and neuropathy: Madelung's disease or MERRF? , 2006, Muscle & nerve.

[15]  D. Turnbull,et al.  Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. , 1997, Brain : a journal of neurology.

[16]  N. Chu,et al.  Peripheral neuropathy in mitochondrial encephalomyopathies. , 1997, European neurology.

[17]  S. Dimauro,et al.  Ekbom's syndrome: Lipomas, ataxia, and neuropathy with MERRF , 1994, Muscle & nerve.

[18]  D. Wallace,et al.  Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation , 1990, Cell.

[19]  T. Tsubaki,et al.  Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): Disease entity or a syndrome? Light- and electron-microscopic studies of two cases and review of literature , 1980, Journal of the Neurological Sciences.