scholarly journals Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions

2021 ◽  
Author(s):  
Tomoya Kawazoe ◽  
Shinsuke Tobisawa ◽  
Keizo Sugaya ◽  
Akinori Uruha ◽  
Kazuhito Miyamoto ◽  
...  
Keyword(s):  
Myoclonic Epilepsy ◽  
Intranuclear Inclusions ◽  
Ragged Red Fibers

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): An Immunohistochemical Study of the Brain

1995 ◽  
Vol 5 (2) ◽  
pp. 125-133 ◽  
Author(s):  
Marco Sparaco ◽  
Eric A. Schon ◽  
Salvatore DiMauro ◽  
Eduardo Bonilla
Keyword(s):  
Immunohistochemical Study ◽  
Myoclonic Epilepsy ◽  
Ragged Red Fibers ◽  
The Brain

scholarly journals Mitochondrial myopathy and myoclonic epilepsy

1990 ◽  
Vol 48 (1) ◽  
pp. 32-43 ◽  
Author(s):  
Walter O. Arruda ◽  
Luiz F. B. Torres ◽  
Anne lombes ◽  
Salvatore Dimauro ◽  
Belkiss A. Cardoso ◽  
...  
Keyword(s):  
Mitochondrial Myopathy ◽  
Biochemical Analysis ◽  
Sensory Neuropathy ◽  
Myoclonic Epilepsy ◽  
Temporal Region ◽  
Mitochondrial Encephalomyopathies ◽  
Ragged Red Fibers ◽  
Ischemic Infarct ◽  
Abnormal Mitochondria ◽  
The Right

The authors describe a family (mother, son and two daughters) with mitochondrial myopathy. The mother was asymptomatic. Two daughters had lactic acidosis and myoclonic epilepsy, mild dementia, ataxia, weakness and sensory neuropathy. The son suffered one acute hemiplegic episode due to an ischemic infarct in the right temporal region. All the patients studied had hypertension. EEG disclosed photomyoclonic response in the proband patient. Muscle biopsy disclosed ragged-red fibers and abnormal mitochondria by electron microscopy. Biochemical analysis showed a defect of cytochrome C oxidase in mitochondria isolated from skeletal muscle. Several clinical and genetic aspects of the mitochondrial encephalomyopathies are discussed.

Retinal Neuronal Loss in Visually Asymptomatic Patients With Myoclonic Epilepsy With Ragged-Red Fibers

2019 ◽  
Vol 39 (1) ◽  
pp. 18-22 ◽  
Author(s):  
Raymond P. Najjar ◽  
Pascal Reynier ◽  
Angélique Caignard ◽  
Vincent Procaccio ◽  
Patrizia Amati-Bonneau ◽  
...  
Keyword(s):  
Neuronal Loss ◽  
Myoclonic Epilepsy ◽  
Ragged Red Fibers ◽  
Asymptomatic Patients
Sign in / Sign up

Export Citation Format

Share Document