Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia

2009 ◽  
Vol 19 (6) ◽  
pp. 423-426 ◽  
Author(s):  
Roberto Negro ◽  
Stefano Zoccolella ◽  
Rosa Dell’Aglio ◽  
Angela Amati ◽  
Lucia Artuso ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Autosomal Dominant ◽  
Late Onset ◽  
Progressive External Ophthalmoplegia ◽  
Chronic Progressive External Ophthalmoplegia ◽  
Mild Form

Autosomal Dominant Optic Atrophy

2019 ◽  
pp. 29-34
Author(s):  
Matthew J. Thurtell ◽  
Robert L. Tomsak
Keyword(s):  
Differential Diagnosis ◽  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Spastic Paraparesis ◽  
Progressive External Ophthalmoplegia ◽  
Management Approach ◽  
Chronic Progressive External Ophthalmoplegia ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy ◽  
History Of

There is a broad differential diagnosis for bilateral optic neuropathies, including inflammatory, ischemic, compressive, traumatic, nutritional, toxic, and inherited causes. In this chapter, we begin by discussing the approach to the patient who has bilateral symmetric optic neuropathies. We next review the genetic basis, clinical features, and natural history of autosomal dominant optic atrophy. We list other deficits that can occur in up to 20% of patients with this condition, which can include sensorineural hearing loss, ataxia, myopathy, peripheral neuropathy, spastic paraparesis, and chronic progressive external ophthalmoplegia. Lastly, we discuss the evaluation and management approach for autosomal dominant optic atrophy.

scholarly journals Late-onset presentation of POLG1-associated mitochondrial disease

2019 ◽  
Vol 12 (3) ◽  
pp. e228482 ◽  
Author(s):  
Bruna Meira ◽  
Rafael Roque ◽  
Miguel Pinto ◽  
André Caetano
Keyword(s):  
Mitochondrial Disease ◽  
Age Of Onset ◽  
Late Onset ◽  
Clinical Manifestations ◽  
Progressive External Ophthalmoplegia ◽  
Clinical Feature ◽  
Gait Ataxia ◽  
Chronic Progressive External Ophthalmoplegia ◽  
Genetic Studies ◽  
In Cis

Mutations in the nuclear POLG1 gene compromise the integrity of mitochondrial DNA and show great allelic and clinical heterogeneity. Among adult POLG1-associated mitochondrial disease, the main clinical feature is chronic progressive external ophthalmoplegia. Other related clinical manifestations are sensory or cerebellar ataxia, peripheral neuropathy, myopathy or extrapyramidal symptoms. We report the case of a 72-year-old man who presented with a late onset sensory neuronopathy, chronic progressive external ophthalmoplegia, gait ataxia and parkinsonism. Genetic studies showed a compound heterozygosity of known pathogenic mutations in the POLG1 gene (variant T252I/P587 L in cis configuration in allele 1 and variant R807C in allele 2). Late life presentation highlights that mitochondrial disorders should be considered regardless of age of onset of symptoms.

scholarly journals Multisystem Disorder in Late-Onset Chronic Progressive External Ophthalmoplegia

2011 ◽  
Vol 38 (1) ◽  
pp. 119-123 ◽  
Author(s):  
Gerald Pfeffer ◽  
Sandra Sirrs ◽  
N. Kevin Wade ◽  
Michelle M. Mezei
Keyword(s):  
Late Onset ◽  
Retrospective Chart Review ◽  
Cardiac Conduction ◽  
Progressive External Ophthalmoplegia ◽  
Chronic Progressive External Ophthalmoplegia ◽  
Mitochondrial Toxicity ◽  
Hepatitis C Infection ◽  
Multisystem Disorder ◽  
Pigmentary Retinopathy ◽  
Disease Spectrum

Abstract:Introduction:Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial syndrome on a disease spectrum with Kearns-Sayre syndrome (KSS). Clinical presentation is variable and our experience suggested that phenotypic differences exist in CPEO with onset after age 20.Methods:This descriptive study is a retrospective chart review of 40 patients with late-onset CPEO. Clinical features, laboratory and neurophysiology results were reviewed.Results:Multisystem dysfunction was very common in this series. Gastrointestinal dysfunction was more common than expected (60%) as was migraine headache (40%). Clinical characteristics on the KSS disease spectrum were uncommon in this series with only 2.5% having pigmentary retinopathy, 5% with cardiac conduction abnormality, and 22.5% having endocrinopathy (most often thyroid dysfunction rather than diabetes). Neurophysiology abnormalities included length-dependent axonal polyneuropathy in 44% (sometimes subclinical) and myopathic EMG changes in 26%. Exposure to sources of acquired mitochondrial toxicity including cigarette use and hepatitis C infection were more common than expected in this series.Discussion:Phenotype was different in this late-onset series compared with previous reports in CPEO patients. In this series of late-onset patients, multi-organ dysfunction was more common than previously reported in CPEO, and some classical mitochondrial manifestations, such as pigmentary retinopathy were rare. We suggest that acquired mitochondrial toxicity may have a role in the pathogenesis of adult-onset CPEO.

Late onset autosomal dominant hypophosphatemic rickets; confirmation of the diagnosis with genomic analysis

2013 ◽  
Author(s):  
Symeon Tournis ◽  
Ioannis Stathopoulos ◽  
Kalliopi Lampropoulou-Adamidou ◽  
Theodora Koromila ◽  
Nikolaos Chatzistamatas ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Late Onset ◽  
Genomic Analysis ◽  
Hypophosphatemic Rickets ◽  
Autosomal Dominant Hypophosphatemic Rickets
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