Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys

Abstract We describe a patient with acute combined demyelinating disease of the central and peripheral nervous systems associated with the A8344G mutation in the mitochondrial tRNA lysine gene. A 7-year-old boy presented with acute onset of palpitations, tinnitus, ataxia, bilateral sixth nerve palsy...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2009-04, Vol.19 (4), p.275-278
Main Authors: Erol, I, Alehan, F, Horvath, R, Schneiderat, P, Talim, B
Format: Article
Language:English
Subjects:
Abducens Nerve Diseases - genetics
Ataxia - genetics
Child
Demyelination
DNA Mutational Analysis
Electromyography
Genetic Markers - genetics
Genetic Predisposition to Disease - genetics
Hereditary Central Nervous System Demyelinating Diseases - genetics
Hereditary Central Nervous System Demyelinating Diseases - pathology
Hereditary Central Nervous System Demyelinating Diseases - physiopathology
Humans
Magnetic Resonance Imaging
Male
MERRF
MERRF Syndrome - genetics
Muscle, Skeletal - metabolism
Muscle, Skeletal - pathology
Muscle, Skeletal - physiopathology
Mutation
Mutation - genetics
Neurology
Peripheral Nervous System Diseases - genetics
Peripheral Nervous System Diseases - pathology
Peripheral Nervous System Diseases - physiopathology
Peripheral neuropathy
Quadriplegia - genetics
RNA, Transfer, Lys - genetics
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Summary:Abstract We describe a patient with acute combined demyelinating disease of the central and peripheral nervous systems associated with the A8344G mutation in the mitochondrial tRNA lysine gene. A 7-year-old boy presented with acute onset of palpitations, tinnitus, ataxia, bilateral sixth nerve palsy, and flaccid quadriparesis. Serum creatine kinase and lactate were mildly increased. Electromyography showed demyelinating sensory and motor polyneuropathy. Brain magnetic resonance imaging demonstrated demyelination in the left thalamus and magnetic resonance spectroscopy revealed a lactate peak corresponding to this lesion. Histologic analysis of the muscle showed cytochrome c -oxidase-deficient fibers and ragged red fibers. Respiratory chain analyses revealed deficiencies of complexes I and IV. Molecular genetic analyses of the muscle showed an A8344G (MERRF) mutation in mitochondrial tRNA lysine. To the best of our knowledge, this is the first description of this mutation associated with acute combined demyelinating disease of the central and peripheral nervous systems.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2009.01.012