Unusual presentations of patients with the mitochondrial MERRF mutation A8344G

Abstract MERRF is typically characterized by myoclonus, generalized seizures and ragged-red fibers in muscular biopsy. We report a family (harbouring the A8344G mutation) with a late onset of the disease and an uncommon clinical manifestation, including episodes of reversible respiratory failure, th...

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Bibliographic Details
Published in:Clinical neurology and neurosurgery 2008-09, Vol.110 (8), p.859-863
Main Authors: Wiedemann, Falk R, Bartels, Claudius, Kirches, Elmar, Mawrin, Christian, Wallesch, Claus-W
Format: Article
Language:English
Subjects:
Aged
Ataxia
Biological and medical sciences
DNA, Mitochondrial - genetics
Electroencephalography
Electromyography
Gait Disorders, Neurologic - etiology
Gait Disorders, Neurologic - pathology
Hearing loss
Humans
Immunohistochemistry
Ischemia
Magnetic Resonance Imaging
Male
Medical sciences
MERRF
MERRF Syndrome - diagnosis
MERRF Syndrome - genetics
MERRF Syndrome - pathology
Middle Aged
Mitochondrial DNA
Muscle Weakness - etiology
Muscle Weakness - pathology
Muscle, Skeletal - pathology
Musculoskeletal system
Mutation
Mutation - physiology
Mutation analysis
Neurology
Neurosurgery
Ostomy
Phenotype
Prostaglandin-Endoperoxide Synthases - metabolism
Respiratory failure
Succinate Dehydrogenase - metabolism
Surgery (general aspects). Transplantations, organ and tissue grafts. Graft diseases
Ventilation
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Summary:Abstract MERRF is typically characterized by myoclonus, generalized seizures and ragged-red fibers in muscular biopsy. We report a family (harbouring the A8344G mutation) with a late onset of the disease and an uncommon clinical manifestation, including episodes of reversible respiratory failure, the presence of ophthalmoplegia, and the absence of seizures and myoclonus in most subjects. We conducted histochemical, biochemical and molecular genetic studies. Mutation analysis revealed that the level of mutated mitochondrial DNA (mtDNA) was above 80% in the skeletal muscle of all siblings. Nevertheless, one severely affected individual did neither present cytochrome c oxidase-negative fibers nor ragged-red fibers in the skeletal muscle biopsy. These data extend the phenotypic range associated with the MERRF syndrome. We suggest that the analysis of mtDNA could be of importance in many cases of unclear multisystem disorders in later life.
ISSN:0303-8467
1872-6968
DOI:10.1016/j.clineuro.2008.06.010