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Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism

✍ Scribed by Atle Melberg; Henrik Arnell; Niklas Dahl; Erik Stålberg; Raili Raininko; Anders Oldfors; Benjamin Bakall; Per Olov Lundberg; Elisabeth Holme

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
892 KB
Volume
19
Category
Article
ISSN
0148-639X

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✦ Synopsis

A large Swedish family with members affected by progressive external ophthalmoplegia with hypogonadism were followed-up and reviewed. Hypogonadism included delayed sexual maturation, primary amenorrhea, early menopause, and testicular atrophy. Cataracts, cerebellar ataxia, neuropathy, hypoacusia, pes cavus, tremor, parkinsonism, depression, and mental retardation were other features observed in this family. Muscle biopsy samples of advanced cases showed ragged-red fibers, focal cytochrome c oxidase deficiency, and multiple mtDNA deletions by Southern blot analysis. An autosomal dominant mode of inheritance was evident with anticipation in successive generations. Linkage analysis excluded the chromosome 1Oq23.3-q24.3 region reported as being linked to the disease in a Finnish family with autosomal dominant progressive external ophthalmoplegia. We report for the first time clinical evidence for anticipation in a family with autosomal dominant progressive external ophthalmoplegia. We hypothesize that the nuclear gene causing this enigmatic disorder may be directly influenced by an expansion of an unstable DNA sequence and that the resulting phenotype is caused by a concerted action with multiple deletions of mtDNA. 0

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