Full Text Journal Articles about
Chronic Progressive External Ophthalmoplegia

Advertisement

Find full text journal articles






Complete genome sequence and analysis of nine Egyptian females with clinical information from different geographic regions in Egypt

Mahmoud ElHefnawi, Elsayed Hegazy, Asmaa ElFiky, Yeonsu Jeon, Sungwon Jeon, Jong Bhak, Fateheya Mohamed Metwally, Sumio Sugano, Terumi Horiuchi, Abe Kazumi, Asta Blazyte,

Abstract Egyptians are at a crossroad between Africa and Eurasia, providing useful genomic resources for analyzing both genetic and environmental factors for future personalized medicine. Two personal Egyptian whole genomes have been published previously and here nine female whole genome sequences with clinical information have been added to expand the ... Read more >>

()
[, :]

Cited: 0 times

View full text PDF listing >>



Cognitive Profile of Patients With Mitochondrial Chronic Progressive External Ophthalmoplegia.

Guanyu Zhang, Yue Hou, Zhaoxia Wang, Zheng Ye,

Mitochondrial chronic progressive external ophthalmoplegia (CPEO) is a major manifestation of human mitochondrial encephalomyopathies. Previous studies have shown cognitive deficits in patients with mitochondrial diseases. However, these studies often included patients with heterogeneous subtypes of mitochondrial diseases. Here, we aimed to provide a better cognitive profile of patients with CPEO ... Read more >>

Front Neurol (Frontiers in neurology)
[2020, 11:36]

Cited: 0 times

View full text PDF listing >>



Advertisement

Unusual Phenotype and Disease Trajectory in Kearns-Sayre Syndrome.

Josef Finsterer, Michael Winklehner, Claudia Stöllberger, Thomas Hummel,

Objective:To describe unusual course and unusual phenotypic features in an adult patient with Kearns-Sayre syndrome (KSS). Case Report. The patient is a 49-year-old male with KSS, diagnosed clinically upon the core features, namely, onset before the age 20 of years, pigmentary retinopathy, and ophthalmoparesis, and the complementary features, namely, elevated ... Read more >>

Case Rep Neurol Med (Case reports in neurological medicine)
[2020, 2020:7368527]

Cited: 0 times

View full text PDF listing >>



Miller Fisher syndrome with bilateral vocal cord paralysis: a case report.

Karan N Ramakrishna, Vikrant Tambe, Adithya Kattamanchi, Amit S Dhamoon,

BACKGROUND:Miller Fisher syndrome is a variant of acute inflammatory demyelinating polyneuropathy classically characterized by ataxia, ophthalmoplegia, and areflexia. Miller Fisher syndrome can present with uncommon symptoms such as bulbar, facial, and somatic muscle palsies and micturition disturbance. CASE PRESENTATION:We describe the case of a 76-year-old white man with new-onset ataxia, ... Read more >>

J Med Case Rep (Journal of medical case reports)
[2020, 14(1):31]

Cited: 0 times

View full text PDF listing >>



Neurodegenerative Diseases Associated with Mitochondrial DNA Mutations.

Olga A Zhunina, Nikita G Yabbarov, Andrey V Grechko, Shaw-Fang Yet, Igor A Sobenin, Alexander N Orekhov,

Mitochondrial dysfunction underlies several human chronic pathologies, including cardiovascular disorders, cancers and neurodegenerative diseases. Impaired mitochondrial function associated with oxidative stress can be a result of both nuclear and mitochondrial DNA (mtDNA) mutations. Neurological disorders associated with mtDNA mutations include mitochondrial encephalomyopathy, chronic progressive external ophthalmoplegia, neurogenic weakness, and Leigh ... Read more >>

Curr. Pharm. Des. (Current pharmaceutical design)
[2020, 26(1):103-109]

Cited: 0 times

View full text PDF listing >>



Healthy, mtDNA-mutation free mesoangioblasts from mtDNA patients qualify for autologous therapy.

Florence van Tienen, Ruby Zelissen, Erika Timmer, Marike van Gisbergen, Patrick Lindsey, Mattia Quattrocelli, Maurilio Sampaolesi, Elvira Mulder-den Hartog, Irenaeus de Coo, Hubert Smeets,

BACKGROUND:Myopathy and exercise intolerance are prominent clinical features in carriers of a point-mutation or large-scale deletion in the mitochondrial DNA (mtDNA). In the majority of patients, the mtDNA mutation is heteroplasmic with varying mutation loads between tissues of an individual. Exercise-induced muscle regeneration has been shown to be beneficial in ... Read more >>

Stem Cell Res Ther (Stem cell research & therapy)
[2019, 10(1):405]

Cited: 0 times

View full text PDF listing >>



Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases.

Fatma Al Jasmi, Nuha Al Zaabi, Khalid Al-Thihli, Amal M Al Teneiji, Jozef Hertecant, Ayman W El-Hattab,

Background:In addition to the reduced energy production, characteristic of mitochondrial disorders, nitric oxide (NO) deficiency can occur as well. The NO produced by vascular endothelial cells relaxes vascular smooth muscles, resulting in vasodilation that maintains the patency of small blood vessels and promotes blood flow through microvasculature. Endothelial dysfunction due ... Read more >>

J Cent Nerv Syst Dis (Journal of central nervous system disease)
[2020, 12:1179573520909377]

Cited: 0 times

View full text PDF listing >>



Pediatric liver diseases and ocular changes: What hepatologists and ophthalmologists should know and share with each other.

Livio Vitiello, Maddalena De Bernardo, Salvatore Guercio Nuzio, Claudia Mandato, Nicola Rosa, Pietro Vajro,

Several rare pediatric liver disorders are accompanied by ophthalmic signs whose awareness and early identification may be of value in confirming/accelerating their diagnosis. Many of these signs are asymptomatic and can only be detected with an ophthalmological examination. Corneal signs are described in patients with Wilson's disease, Alagille's syndrome and ... Read more >>

Dig Liver Dis (Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver)
[2020, 52(1):1-8]

Cited: 0 times

View full text PDF listing >>



Pediatric rheumatology: A special issue from the European Journal of Rheumatology.

Amr H. Sawalha,

(European Journal of Rheumatology)
[2020, 7(Suppl 1):S1-S2]

Cited: 0 times

View full text PDF listing >>



Sentinel Node Biopsy and Lumpectomy in a Patient with Machado-Joseph Disease.

N N Aldawoodi, A R Escher, A Padalia, D Padalia,

Spinocerebellar ataxia 3 (SCA3), also known as Machado-Joseph disease (MJD) is an autosomal dominant, progressive neurodegenerative disorder. Patients present with cerebellar ataxia, dystonia, rigidity, and neuropathy that worsen with time. On a molecular level, it occurs due to a CAG trinucleotide repeat expansion in the ATXN3 gene. Due to the ... Read more >>

Case Rep Anesthesiol (Case reports in anesthesiology)
[2019, 2019:2309598]

Cited: 0 times

View full text PDF listing >>



Proteomics of Cytochrome c Oxidase-Negative versus -Positive Muscle Fiber Sections in Mitochondrial Myopathy.

Marta Murgia, Jing Tan, Philipp E Geyer, Sophia Doll, Matthias Mann, Thomas Klopstock,

The mosaic distribution of cytochrome c oxidase+ (COX+) and COX- muscle fibers in mitochondrial disorders allows the sampling of fibers with compensated and decompensated mitochondrial function from the same individual. We apply laser capture microdissection to excise individual COX+ and COX- fibers from the biopsies of mitochondrial myopathy patients. Using ... Read more >>

Cell Rep (Cell reports)
[2019, 29(12):3825-3834.e4]

Cited: 0 times

View full text PDF listing >>



The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.

Marie Beaudin, Antoni Matilla-Dueñas, Bing-Weng Soong, Jose Luiz Pedroso, Orlando G Barsottini, Hiroshi Mitoma, Shoji Tsuji, Jeremy D Schmahmann, Mario Manto, Guy A Rouleau, Christopher Klein, Nicolas Dupre,

There is currently no accepted classification of autosomal recessive cerebellar ataxias, a group of disorders characterized by important genetic heterogeneity and complex phenotypes. The objective of this task force was to build a consensus on the classification of autosomal recessive ataxias in order to develop a general approach to a ... Read more >>

Cerebellum (Cerebellum (London, England))
[2019, 18(6):1098-1125]

Cited: 0 times

View full text PDF listing >>



Atherosclerosis Can Be Mitochondrial: A Review.

Josef Finsterer,

One of the systems that are potentially affected in mitochondrial disorders, but hardly get systematically investigated, are the arteries. One of the phenotypic manifestations in arteries is atherosclerosis. This review focuses on the current knowledge and recent advances of mitochondrial atherosclerosis. We conducted a systematic literature review via PubMed using ... Read more >>

Cureus (Cureus)
[2020, 12(2):e6987]

Cited: 0 times

View full text PDF listing >>



Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I.

Tereza Danhelovska, Hana Kolarova, Jiri Zeman, Hana Hansikova, Manuela Vaneckova, Lukas Lambert, Vendula Kucerova-Vidrova, Kamila Berankova, Tomas Honzik, Marketa Tesarova,

BACKGROUND:Maternally inherited complex I deficiencies due to mutations in MT-ND genes represent a heterogeneous group of multisystem mitochondrial disorders (MD) with a unfavourable prognosis. The aim of the study was to characterize the impact of the mutations in MT-ND genes, including the novel m.13091 T > C variant, on the course of the ... Read more >>

BMC Pediatr (BMC pediatrics)
[2020, 20(1):41]

Cited: 0 times

View full text PDF listing >>



Systematic review of cognitive deficits in adult mitochondrial disease.

H L Moore, A P Blain, D M Turnbull, G S Gorman,

The profile and trajectory of cognitive impairment in mitochondrial disease are poorly defined. This systematic review sought to evaluate the current literature on cognition in mitochondrial disease, and to determine future research directions. A systematic review was conducted, employing PubMed, Medline, Psycinfo, Embase and Web of Science, and 360-degree citation ... Read more >>

Eur. J. Neurol. (European journal of neurology)
[2020, 27(1):3-17]

Cited: 0 times

View full text PDF listing >>



Genotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort.

Julia N Heighton, Lauren I Brady, Bekim Sadikovic, Dennis E Bulman, Mark A Tarnopolsky,

Chronic progressive external ophthalmoplegia (CPEO) is a common presentation of mitochondrial disease. We performed a retrospective evaluation of the molecular genetic testing and genotype-phenotype correlations in a large cohort of adult-onset CPEO patients (N = 111). One hundred percent of patients tested had at least one mitochondrial DNA (mtDNA) deletion. Genetic testing ... Read more >>

Mitochondrion (Mitochondrion)
[2019, 49:227-231]

Cited: 0 times

View full text PDF listing >>



MELAS in a Walk-in Customer.

Josef Finsterer,

J Neurosci Rural Pract (Journal of neurosciences in rural practice)
[2019, 10(4):725-727]

Cited: 0 times

View full text PDF listing >>



Spinocerebellar ataxia type 2 presenting with involuntary movement: a diagnostic dilemma.

Shu-Ting Li, Yang Zhou,

J. Int. Med. Res. (The Journal of international medical research)
[2019, 47(12):6390-6396]

Cited: 0 times

View full text PDF listing >>



Mitochondrial disorders and the eye.

Eli Kisilevsky, Paul Freund, Edward Margolin,

Mitochondria are cellular organelles that play a key role in energy metabolism and oxidative phosphorylation. Malfunctioning of mitochondria has been implicated as the cause of many disorders with variable inheritance, heterogeneity of systems involved, and varied phenotype. Metabolically active tissues are more likely to be affected, causing an anatomic and ... Read more >>

Surv Ophthalmol (Survey of ophthalmology)
[2020, 65(3):294-311]

Cited: 0 times

View full text PDF listing >>



Appendicular skeletal muscle mass: A more sensitive biomarker of disease severity than BMI in adults with mitochondrial diseases.

Yue Hou, Zhiying Xie, Xutong Zhao, Yun Yuan, Pan Dou, Zhaoxia Wang,

The study aimed to evaluate the body composition of patients with mitochondrial diseases (MD) and correlate it with disease severity. Overall, 89 patients (age ≥ 18 years) with MD were recruited, including 49 with chronic progressive external ophthalmoplegia (CPEO) and 40 with mitochondrial encephalomyopathy with lactate acidosis and stroke-like episodes ... Read more >>

PLoS ONE (PloS one)
[2019, 14(7):e0219628]

Cited: 0 times

View full text PDF listing >>



A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.

Debby M E I Hellebrekers, Emma L Blakely, Alexandra T M Hendrickx, Steven A Hardy, Sila Hopton, Gavin Falkous, Irenaeus F M de Coo, Hubert J M Smeets, Nadine M E van der Beek, Robert W Taylor,

We report a novel mitochondrial m.4414T>C variant in the mt-tRNAMet (MT-TM) gene in an adult patient with chronic progressive external ophthalmoplegia and myopathy whose muscle biopsy revealed focal cytochrome c oxidase (COX)-deficient and ragged red fibres. The m.4414T>C variant occurs at a strongly evolutionary conserved sequence position, disturbing a canonical ... Read more >>

Neuromuscul. Disord. (Neuromuscular disorders : NMD)
[2019, 29(9):693-697]

Cited: 0 times

View full text PDF listing >>



A PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptoms.

Kei Kasamo, Masayuki Nakamura, Yoko Daimou, Akira Sano,

Chronic progressive external ophthalmoplegia (CPEO) is one of the most common mitochondrial disorders. It is characterized by bilateral, slowly progressing loss of extraocular muscle mobility, orbicularis oculi weakness, ptosis, and other neuromuscular symptoms, which are caused by the accumulation of multiple mitochondrial DNA (mtDNA) deletions. Many mutations in different nuclear ... Read more >>

Neurosci. Res. (Neuroscience research)
[2019, :]

Cited: 0 times

View full text PDF listing >>



Novel myocardial markers GADD45G and NDUFS5 identified by RNA-sequencing predicts left ventricular reverse remodeling in advanced non-ischemic heart failure: a retrospective cohort study.

Togo Iwahana, Sho Okada, Masato Kanda, Motohiko Oshima, Atsushi Iwama, Goro Matsumiya, Yoshio Kobayashi,

BACKGROUND:Left ventricular reverse remodeling (LVRR) has been detected in non-ischemic dilated cardiomyopathy (NIDCM) patients following optimal treatment. However, its prediction with only conventional modalities is often difficult. This study sought to examine whether RNA sequencing (RNA-seq) of myocardium tissue samples could predict LVRR in NIDCM. METHODS:A total of 17 advanced ... Read more >>

BMC Cardiovasc Disord (BMC cardiovascular disorders)
[2020, 20(1):116]

Cited: 0 times

View full text PDF listing >>



Fabry Disease With Concomitant Lewy Body Disease.

Kelly Del Tredici, Albert C Ludolph, Simone Feldengut, Christian Jacob, Heinz Reichmann, Jürgen R Bohl, Heiko Braak,

Although Gaucher disease can be accompanied by Lewy pathology (LP) and extrapyramidal symptoms, it is unknown if LP exists in Fabry disease (FD), another progressive multisystem lysosomal storage disorder. We aimed to elucidate the distribution patterns of FD-related inclusions and LP in the brain of a 58-year-old cognitively unimpaired male ... Read more >>

J. Neuropathol. Exp. Neurol. (Journal of neuropathology and experimental neurology)
[2020, 79(4):378-392]

Cited: 0 times

View full text PDF listing >>



Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration.

Claudia Stendel, Christiane Neuhofer, Elisa Floride, Shi Yuqing, Rebecca D Ganetzky, Joohyun Park, Peter Freisinger, Cornelia Kornblum, Stephanie Kleinle, Ludger Schöls, Felix Distelmaier, Georg M Stettner, Boriana Büchner, Marni J Falk, Johannes A Mayr, Matthis Synofzik, Angela Abicht, Tobias B Haack, Holger Prokisch, Saskia B Wortmann, Kei Murayama, Fang Fang, Thomas Klopstock, ,

Objective:To delineate the phenotypic and genotypic spectrum in carriers of mitochondrial MT-ATP6 mutations in a large international cohort. Methods:We analyzed in detail the clinical, genetical, and neuroimaging data from 132 mutation carriers from national registries and local databases from Europe, USA, Japan, and China. Results:We identified 113 clinically affected and ... Read more >>

Neurol Genet (Neurology. Genetics)
[2020, 6(1):e393]

Cited: 0 times

View full text PDF listing >>



Advertisement

Disclaimer
4.3513 s