Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions.

Autor: Kawazoe T; Department of Neurology, Tokyo Metropolitan Neurological Hospital (TMNH), Japan., Tobisawa S; Department of Neurology, Tokyo Metropolitan Neurological Hospital (TMNH), Japan., Sugaya K; Department of Neurology, Tokyo Metropolitan Neurological Hospital (TMNH), Japan., Uruha A; Department of Neurology, Tokyo Metropolitan Neurological Hospital (TMNH), Japan.; Department of Neuropathology, Charité - Universitätsmedizin Berlin, Germany., Miyamoto K; Department of Neurology, Tokyo Metropolitan Neurological Hospital (TMNH), Japan., Komori T; Department of Laboratory Medicine and Pathology (Neuropathology), TMNH, Japan., Goto YI; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Japan.; Medical Genome Center, NCNP, Japan., Nishino I; Medical Genome Center, NCNP, Japan.; Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Japan., Yoshihashi H; Department of Clinical Genetics, Tokyo Metropolitan Children's Medical Center, Japan., Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan., Egawa N; Department of Neurology, Kyoto University Graduate School of Medicine, Japan., Kawata A; Department of Neurology, Tokyo Metropolitan Neurological Hospital (TMNH), Japan., Isozaki E; Department of Neurology, Tokyo Metropolitan Neurological Hospital (TMNH), Japan.
Jazyk: angličtina
Zdroj: Internal medicine (Tokyo, Japan) [Intern Med] 2022 Feb 15; Vol. 61 (4), pp. 547-552. Date of Electronic Publication: 2021 Aug 24.
DOI: 10.2169/internalmedicine.7767-21
Abstrakt: We herein report a case of myoclonic epilepsy with ragged-red fibers (MERRF) harboring a novel variant in mitochondrial cysteine transfer RNA (MT-TC). A 68-year-old woman presented with progressive myoclonic epilepsy with optic atrophy and peripheral neuropathy. A skin biopsy revealed p62-positive intranuclear inclusions. No mutations were found in the causative genes for diseases known to be related to intranuclear inclusions; however, a novel variant in MT-TC was found. The association between intranuclear inclusions and this newly identified MERRF-associated variant is unclear; however, the rare complication of intranuclear inclusions in a patient with typical MERRF symptoms should be noted for future studies.
Databáze: MEDLINE
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