Progressive External Ophthalmoplegia in Polish Patients—From Clinical Evaluation to Genetic Confirmation
| العنوان: | Progressive External Ophthalmoplegia in Polish Patients—From Clinical Evaluation to Genetic Confirmation |
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| المؤلفون: | Anna Kostera-Pruszczyk, Joanna Rusecka, Joanna Kosińska, Ewa Bartnik, Biruta Kierdaszuk, Magdalena Kaliszewska, Katarzyna Tońska, Anna Kamińska |
| المصدر: | Genes Volume 12 Issue 1 Genes, Vol 12, Iss 54, p 54 (2021) |
| بيانات النشر: | Multidisciplinary Digital Publishing Institute, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Male, 0301 basic medicine, Mitochondrial encephalomyopathy, Ophthalmoplegia, Chronic Progressive External, Mitochondrial Diseases, Gene Expression, Kearns-Sayre Syndrome, TWNK gene, 0302 clinical medicine, Cerebellum, Medicine, Child, Genetics (clinical), Sequence Deletion, Middle Aged, DNA Polymerase gamma, Mitochondria, Pedigree, Female, medicine.symptom, muscle biopsy, RNASEH1 gene, Adult, medicine.medical_specialty, Mitochondrial DNA, Adolescent, lcsh:QH426-470, Mitochondrial disease, Genetic counseling, Ribonuclease H, DNA, Mitochondrial, Article, Ophthalmoparesis, Diagnosis, Differential, Mitochondrial Proteins, multiple mitochondrial DNA deletions, 03 medical and health sciences, mitochondrial disorders, Mitochondrial Encephalomyopathies, POLG gene, Internal medicine, Genetics, Humans, Muscle, Skeletal, Cerebrum, Aged, Polymorphism, Genetic, business.industry, External ophthalmoplegia, DNA Helicases, medicine.disease, progressive external ophthalmoplegia, lcsh:Genetics, 030104 developmental biology, Poland, mitochondrial DNA deletions, business, Chronic progressive external ophthalmoplegia, 030217 neurology & neurosurgery |
| الوصف: | 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 POLG was sequenced in 41 patients, TWNK (C10orf2) in 13 patients, and RNASEH1 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&ndash 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 POLG gene in nine patients, the TWNK gene in five patients and the RNASEH1 gene in two patients. Detailed patients&rsquo 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. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 2073-4425 |
| DOI: | 10.3390/genes12010054 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f5e9eb9fa21a47ae74a18085f3fdcc0Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....7f5e9eb9fa21a47ae74a18085f3fdcc0 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20734425 |
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| DOI: | 10.3390/genes12010054 |