Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation

Mitochondrial encephalomyopathies comprise a group of heterogeneous disorders resulting from impaired oxidative phosphorylation (OxPhos). Among a variety of symptoms progressive external ophthalmoplegia (PEO) seems to be the most common. The aim of this study is to present clinical and genetic chara...

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Bibliographic Details
Published in:Genes 2020-12, Vol.12 (1), p.54
Main Authors: Kierdaszuk, Biruta, Kaliszewska, Magdalena, Rusecka, Joanna, Kosińska, Joanna, Bartnik, Ewa, Tońska, Katarzyna, Kamińska, Anna M, Kostera-Pruszczyk, Anna
Format: Article
Language:English
Subjects:
Age
Cardiomyopathy
Deoxyribonucleic acid
DNA
Dysarthria
Epilepsy
Genes
Genetic analysis
Genetic counseling
Genetic testing
Genomes
Hearing loss
Intellectual disabilities
Microscopy
Mitochondrial DNA
Morphology
Mutation
Nervous system
Neuropathy
Nucleotide sequence
Ophthalmoplegia
Oxidative phosphorylation
Patients
Phosphorylation
Proteins
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Summary:Mitochondrial encephalomyopathies comprise a group of heterogeneous disorders resulting from impaired oxidative phosphorylation (OxPhos). Among a variety of symptoms progressive external ophthalmoplegia (PEO) seems to be the most common. The aim of this study is to present clinical and genetic characteristics of Polish patients with PEO. Clinical, electrophysiological, neuroradiological, and morphological data of 84 patients were analyzed. Genetic studies of mitochondrial DNA (mtDNA) were performed in all patients. Among nuclear DNA (nDNA) genes was sequenced in 41 patients, ( ) in 13 patients, and in 2 patients. Total of 27 patients were included in the chronic progressive external ophthalmoplegia (CPEO) group, 24 in the CPEO+ group. Twenty-six patients had mitochondrial encephalomyopathy (ME), six patients Kearns-Sayre syndrome (KSS), and one patient sensory ataxic neuropathy, dysarthria, ophthalmoparesis (SANDO) syndrome. Genetic analysis of nDNA genes revealed the presence of pathogenic or possibly pathogenic variants in the gene in nine patients, the gene in five patients and the gene in two patients. Detailed patients' history and careful assessment of family history are essential in the diagnostic work-up. Genetic studies of both mtDNA and nDNA are necessary for the final diagnosis of progressive external ophthalmoplegia and for genetic counseling.
ISSN:2073-4425
2073-4425
DOI:10.3390/genes12010054