scholarly journals Réponse des auteurs à la lettre à l’éditeur concernant l’article « MERRF syndrome (Myoclonic Epilepsy with Ragged Red Fibres) presenting with cervicothoracic lipomatosis »

2020 ◽  
Vol 137 (3) ◽  
pp. 223-224
Author(s):  
F. Carré ◽  
R. Hervochon ◽  
C. Foirest ◽  
F. Tankéré
Keyword(s):  
Myoclonic Epilepsy ◽  
Merrf Syndrome

Ganglionopathies Associated with MERRF Syndrome: An Original Report

2020 ◽  
Vol 7 (4) ◽  
pp. 419-423
Author(s):  
Maud Michaud ◽  
Tanya Stojkovic ◽  
Thierry Maisonobe ◽  
Anthony Behin ◽  
Benoit Rucheton ◽  
...  
Keyword(s):  
Nerve Conduction ◽  
Mitochondrial Diseases ◽  
Sensory Neuropathy ◽  
Nerve Conduction Studies ◽  
Myoclonic Epilepsy ◽  
Sensory Abnormalities ◽  
Ragged Red Fibers ◽  
Original Report ◽  
Merrf Syndrome

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.

Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: Report of a Chinese family with mitochondrial DNA point mutation in tRNALys gene

1994 ◽  
Vol 17 (1) ◽  
pp. 52-57 ◽  
Author(s):  
Wan Fang ◽  
Chin-Chang Huang ◽  
Nai-Shun Chu ◽  
Cheng-Chun Lee ◽  
Rou-Shayn Chen ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Point Mutation ◽  
Myoclonic Epilepsy ◽  
Chinese Family ◽  
Ragged Red Fibers ◽  
Merrf Syndrome ◽  
Syndrome Report

scholarly journals Regionalized Pathology Correlates with Augmentation of mtDNA Copy Numbers in a Patient with Myoclonic Epilepsy with Ragged-Red Fibers (MERRF-Syndrome)

PLoS ONE ◽  
2010 ◽  
Vol 5 (10) ◽  
pp. e13513 ◽  
Author(s):  
Anja Brinckmann ◽  
Claudia Weiss ◽  
Friederike Wilbert ◽  
Arpad von Moers ◽  
Angelika Zwirner ◽  
...  
Keyword(s):  
Myoclonic Epilepsy ◽  
Ragged Red Fibers ◽  
Copy Numbers ◽  
Merrf Syndrome

Myoclonic epilepsy as affection of central nervous system in Farber disease

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
N Schmitz ◽  
M Baz Bartels ◽  
A Jarisch ◽  
P Bader ◽  
M Rohrbach ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Myoclonic Epilepsy ◽  
Farber Disease

FV 837. Early Withdrawal of Antiepileptic Medication in Patients with Juvenile Myoclonic Epilepsy Is Justifiable!

2018 ◽  
Author(s):  
Gerhard Kurlemann ◽  
Jana Krois-Neudenberger ◽  
Oliver Schwartz ◽  
Beate Jensen ◽  
Jürgen Althaus ◽  
...  
Keyword(s):  
Juvenile Myoclonic Epilepsy ◽  
Myoclonic Epilepsy ◽  
Early Withdrawal ◽  
Antiepileptic Medication
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