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Pontine stroke in a patient with Chronic Progressive External Ophthalmoplegia (CPEO): a case report.
BMC Neurol
June 2023
Department of Neurology, University of Chicago Medical Center, Chicago, IL, USA.
Background: Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease with slowly progressive bilateral ptosis and symmetric ophthalmoplegia due to a genetic mutation that results in defective oxidative phosphorylation. Common genes that are implicated in CPEO include POLG, RRM2B, ANT1 and PEO1/TWNK. Here, we report a case of a patient diagnosed with CPEO caused by a novel mutation in PEO/TWNK after suffering a right pontine stroke.
View Article and Find Full Text PDFGenetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms.
Acta Ophthalmol
February 2016
PEDEGO Research Unit, University of Oulu, Oulu, Finland.
Purpose: To investigate the association of mutations in the mitochondrial DNA (mtDNA) or nuclear candidate genes with mitochondrial disease-related ophthalmic manifestations (nystagmus, ptosis, ophthalmoplegia, optic neuropathy and retinopathy) in children.
Methods: A retrospective cohort of children (n = 98) was identified from the medical record files of a tertiary care hospital. The entire mtDNA and nuclear genes POLG1, OPA1 and PEO1 were analysed from the available DNA samples (n = 38).
Genetics of strabismus and lid diseases.
J Pediatr Genet
December 2014
College of Ophthalmology and Allied Vision Sciences, King Edward Medical University, Lahore, Pakistan.
The prevalence of congenital ocular malformations has been described to vary from 0.04 to 6.8 per 10,000 live births.
View Article and Find Full Text PDFSANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions.
J Neurol Neurosurg Psychiatry
June 2015
Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle (Saale), Germany.
Objective: The sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) syndrome is a subgroup of mitochondrial chronic progressive external ophthalmoplegia (CPEO)-plus disorders associated with multiple mitochondrial DNA (mtDNA) deletions. There is no systematic survey on SANDO in patients with CPEO with either single or multiple large-scale mtDNA deletions.
Methods: In this retrospective analysis, we characterised the frequency, the genetic and clinical phenotype of 107 index patients with mitochondrial CPEO (n=66 patients with single and n=41 patients with multiple mtDNA deletions) and assessed these for clinical evidence of a SANDO phenotype.
Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia.
PLoS One
August 2014
Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom.
Background: Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterised by bilateral progressive ptosis and ophthalmoplegia. These ocular features can develop either in isolation or in association with other prominent neurological deficits (CPEO+). Molecularly, CPEO can be classified into two distinct genetic subgroups depending on whether patients harbour single, large-scale mitochondrial DNA (mtDNA) deletions or multiple mtDNA deletions secondary to a nuclear mutation disrupting mtDNA replication or repair.
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