Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features

A mitochondrial myopathy associated with multiple deletions of mitochondrial DNA has been identified in pedigrees showing an autosomal dominant mode of inheritance. We report the first two British kindreds with this disorder, and two sporadic cases. The families exhibited some unusual clinical featu...

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Bibliographic Details
Published in:Journal of the neurological sciences 1996-11, Vol.143 (1), p.41-45
Main Authors: Chalmers, R.M, Brockington, M, Howard, R.S, Lecky, B.R.F, Morgan-Hughes, J.A, Harding, A.E
Format: Article
Language:English
Subjects:
Adult
Aged
Autosomal dominant
Biological and medical sciences
Blotting, Southern
Diseases of striated muscles. Neuromuscular diseases
DNA, Mitochondrial - genetics
Family Health
Female
Gene Deletion
Humans
Male
Medical sciences
Middle Aged
Mitochondrial DNA
Mitochondrial Encephalomyopathies - diagnosis
Mitochondrial Encephalomyopathies - genetics
Multiple deletions
Neurology
Neuropathy
Parkinsonism
Pedigree
Retinopathy
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Summary:A mitochondrial myopathy associated with multiple deletions of mitochondrial DNA has been identified in pedigrees showing an autosomal dominant mode of inheritance. We report the first two British kindreds with this disorder, and two sporadic cases. The families exhibited some unusual clinical features, including pigmentary retinopathy and tremor; the latter was levodopa-responsive and associated with rigidity and micrographia in one family. Members of one pedigree and both sporadic patients had a peripheral neuropathy and nerve biopsy showed marked axonal degeneration. Post-mortem examination of one patient without parkinsonism showed severe neuronal loss in the substantia nigra.
ISSN:0022-510X
1878-5883
DOI:10.1016/S0022-510X(96)00032-9