Authors’ response to the letter on the article “MERRF syndrome (Myoclonic Epilepsy with Ragged Red Fibres) presenting with cervicothoracic lipomatosis”
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چکیده
منابع مشابه
Myoclonic epilepsy with ragged red fibres.
MERRF is characterized by muscle twitches (myoclonus), weakness (myopathy), and progressive stiffness (spasticity). When the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells are called ragged-red fibers. Other features of MERRF include recurrent seizures (epilepsy), difficulty coordinating movements ...
متن کاملMyoclonic epilepsy with ragged-red fibers: A case report
Myoclonic epilepsy with ragged-red fibers is a maternally inherited disease that is characterized by myoclonic epilepsy, cerebellar ataxia and progressive muscular weakness. The present study reports the case of a 25-year-old male who presented with paroxysmal left upper limb tics and weakness for two years. Neurological examination revealed intact cranial nerves, decreased deep tendon reflexes...
متن کاملRegionalized Pathology Correlates with Augmentation of mtDNA Copy Numbers in a Patient with Myoclonic Epilepsy with Ragged-Red Fibers (MERRF-Syndrome)
Human patients with myoclonic epilepsy with ragged-red fibers (MERRF) suffer from regionalized pathology caused by a mutation in the mitochondrial DNA (m.8344A→G). In MERRF-syndrome brain and skeletal muscles are predominantly affected, despite mtDNA being present in any tissue. In the past such tissue-specificity could not be explained by varying mtDNA mutation loads. In search for a region-sp...
متن کاملMyoclonic epilepsy and ragged red fibers (MERRF) syndrome: selective vulnerability of CNS neurons does not correlate with the level of mitochondrial tRNAlys mutation in individual neuronal isolates.
Selective vulnerability of subpopulations of neurons is a striking feature of neurodegeneration. Mitochondrially transmitted diseases are no exception. In this study CNS tissues from a patient with myoclonus epilepsy and ragged red fibers (MERRF) syndrome, which results from an A to G transition of nucleotide (nt) 8344 in the mitochondrial tRNALys gene, were examined for the proportion of mutan...
متن کاملAntiepileptic treatment and blood lactate level alteration in patients with myoclonic epilepsy with ragged-red fi bers (MERRF) syndrome in a Chinese family
Background: Myoclonic epilepsy with ragged-red fi bers (MERRF) is a type of mitochondrial encephalomyopathy, clinical experience with the antiepileptic treatment for myoclonus in MERRF is still limited. Myoclonus appears to be intractable, and some antiepileptic drugs may change the blood lactate level. Objective: In this study, we report on two patients, a girl and her mother, both with MERRF ...
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ژورنال
عنوان ژورنال: European Annals of Otorhinolaryngology, Head and Neck Diseases
سال: 2020
ISSN: 1879-7296
DOI: 10.1016/j.anorl.2020.01.016