Familiäre mitochondriale chronisch progressive externe Ophthalmoplegie Fünf Familien mit unterschiedlicher Genetik

Abstract

CPEO was familial in 28% of our patients. There are three different modes of inheritance: (i) maternal transmission associated with mitochondrial point mutations as it is known for other mitochondrial disorders, (ii) autosomal recessive, and (iii) autosomal dominant inheritance. In contrast to sporadic cases with single mitochondrial deletions autosomal inheritance can be associated with multiple deletions of mitochondrial DNA. They are due to so far unknown nuclear mutations.

Chronic Progressive External Ophthalmoplegia

“…It is usually sporadic, although familial forms have been reported in one third of cases, with different patterns of inheritance: maternal, autosomal dominant, and autosomal recessive. 8 We present a report of 6 patients with CPEO, analyze the clinical, anatomopathologic, biochemical, and genetic characteristics, and review the literature. A greater understanding of this condition will avoid confusion with other clinical entities and the administration of unsatisfactory treatments with potential adverse effects.…”

Update on Chronic Progressive External Ophthalmoplegia

“…Especially CPEO as a symptom is not confined solely to the group of 'CPEO plus', but can be part of other clinical syndromes as well (e.g., 5-11% of patients with a MELAS syndrome suffer from an additional CPEO (Deschauer et al, 2001;Hirano, 1992)). …”

Chronisch progressive externe Ophthalmoplegie (CPEO) - diagnostische und therapeutische Probleme

“…Hinsichtlich der Heredität der Erkrankung kann man von etwa 30 % Erblichkeit bei teilweise autosomalem und teilweise autosomal-rezessivem Erbgang ausgehen; weitaus häufiger jedoch ist das sporadische Auftreten der Erkrankung, wobei Assoziation mit multiplen Deletionsorten der mitochondrialen DNA und tRNA nachgewiesen wurde [5,10].…”