A5001469794- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Epilepsy research and treatment
- ATP Synthase and ATPases Research
- Genomics and Rare Diseases
- Coenzyme Q10 studies and effects
- Epigenetics and DNA Methylation
- Genetic Syndromes and Imprinting
- Advanced battery technologies research
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Fibroblast Growth Factor Research
- Neurological diseases and metabolism
- Celiac Disease Research and Management
- Glycogen Storage Diseases and Myoclonus
- Diet and metabolism studies
- Ethics and Legal Issues in Pediatric Healthcare
- Biochemical Acid Research Studies
- Agriculture, Plant Science, Crop Management
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- European and International Law Studies
- Neuroscience and Neuropharmacology Research
- Deception detection and forensic psychology
- Pharmacological Effects and Toxicity Studies
- Genetic factors in colorectal cancer
- Nuclear Structure and Function
Haukeland University Hospital
2013-2024
University of Bergen
2016-2024
Oslo University Hospital
2024
ERN GUARD-Heart
2024
MetabERN
2024
Smerteklinikken
2020
Variants in POLG are one of the most common causes inherited mitochondrial disease. Phenotypic classification disease has evolved haphazardly making it complicated and difficult to implement everyday clinical practise. The aim our study was simplify facilitate better recognition.A multinational, retrospective using data from 155 patients with variants recruited seven European countries.We describe spectrum features associated largest known cohort patients. While clearly form a continuum,...
Primary mitochondrial diseases (PMDs) are common inborn errors of energy metabolism, with an estimated prevalence one in 4300. These disorders typically affect tissues high requirements, including heart, muscle and brain. Epilepsy may be the presenting feature PMD, can difficult to treat often represents a poor prognostic feature. The aim this study was develop guidelines consensus recommendations on safe medication use seizure management epilepsy.
We aimed to provide a detailed phenotypic description of status epilepticus (SE) in large cohort patients with POLG disease and identify prognostic biomarkers improve the management this life-threatening condition. In multinational, retrospective study data on from seven European countries, we identified those who had SE. The age SE onset, accompanying clinical, laboratory, imaging genetic findings were analysed. One hundred ninety-five genetically confirmed recruited, whom 67% (130/194)...
Objective 3‐Methylglutaconic aciduria, dystonia–deafness, hepatopathy, encephalopathy, Leigh‐like syndrome (MEGDHEL) is caused by biallelic variants in SERAC1 . Methods This multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic findings are reported. Results Sixty‐seven individuals (39 previously unreported) from 59 families were included (age range = 5 days–33.4 years, median age 9 years). A total 41 different identified,...
Background and purpose Defects of coenzyme Q10 (CoQ10) metabolism cause a variety disorders ranging from isolated myopathy to multisystem involvement. ADCK 3 is one several genes associated with CoQ10 deficiency that presents progressive cerebellar ataxia, epilepsy, migraine psychiatric disorders. Diagnosis challenging due the wide clinical spectrum overlap other mitochondrial Methods A detailed description three new patients previously reported patient Norwegian families novel known...
Abstract Objective To delineate the full phenotypic spectrum of BCS1L‐ related disease, provide better understanding genotype–phenotype correlations and identify reliable prognostic disease markers. Methods We performed a retrospective multinational cohort study previously unpublished patients followed in 15 centres from 10 countries. Patients with confirmed biallelic pathogenic BCS1L variants were considered eligible. Clinical, laboratory, neuroimaging genetic data analysed. stratified into...
Abstract The aim of this study was to explore the utility serum biomarkers neurofilament light chain, fibroblast growth factor 21 and differentiation 15 in diagnosing primary mitochondrial disorders. We measured 26 patients with a genetically proven disease. Fibroblast were by enzyme-linked immunosorbent assay chain Simoa assay. Neurofilament highest multi-systemic involvement that included central nervous system such as those m.3242A>G mutation. Mean also epilepsy versus without...
To investigate the prevalence and natural history of POLG disease in Norwegian population.
Background Large-scale mitochondrial DNA deletions (LMD) are a common genetic cause of disease and give rise to wide range clinical features. Lack longitudinal data means the natural history remains unclear. This study was undertaken describe spectrum in large cohort patients with paediatric onset. Methods A retrospective multicentre performed onset <16 years age, diagnosed followed seven European centres. Results total 80 were included. The average age at last examination 10 31 years,...
This study aimed to investigate associations between renal and extrarenal manifestations of mitochondrial diseases their natural history as well predictors disease severity overall outcome. The secondary aim was generate a protocol presymptomatic assessment monitoring function in patients with defined disease.
Abstract Objective To study the impact of gender, puberty, and pregnancy on expression POLG disease, one most common mitochondrial diseases known. Methods Clinical, laboratory, genetic data were collected retrospectively from 155 patients with genetically confirmed disease recruited seven European countries. We used available to onset deterioration. Results found that early in life was both sexes but there also a second peak females around time puberty. Further, had negative 10 14 women...
Summary Objective Epilepsy is common in individuals with mutations POLG , the gene encoding catalytic subunit of mitochondrial DNA polymerase gamma. Early recognition and aggressive seizure management are crucial for patient survival. Disruption blood‐brain barrier ( BBB ) implicated various neurological disorders including epilepsy. The aim this study was to assess whether ‐related disease associated dysfunction what clinical implications has patients. Methods Our retrospective used data...
Abstract Primary mitochondrial diseases (PMD) account for a group of approximately 400 different genetic disorders with diverse clinical presentations and pathomechanisms. Although each individual disorder is rare, collectively they represent one the largest groups in field inherited metabolic disorders. The complexity PMD results continued lack therapeutic options, necessitating predominantly symptomatic treatment approach affected patients. While subset responds exceptionally well to...
Aim. To estimate number of children being diagnosed with chronic fatigue syndrome (CFS). Methods. For a period 10 years (2002-2011) data from referred for symptoms were collected retrospectively. Results. Thirty-seven referred. Four excluded due to incorrect coding. Six (18%) patients received other diagnoses at the end evaluation time. Of 27 who diagnosis G93.3, four had previous illness, while 23 previously healthy. All reported onset symptom in relation an infection, and all tested...
We aimed to assess the impact of POLG disease on mental health and quality life in 15 patients using Symptom Checklist-90-R (SCL-90-R) Short-Form 36 Health Survey (RAND-36). found increased scores all nine subscales SCL-90-R, particularly phobic anxiety, depression somatization. Further, reported considerably lower RAND-36 domains. This study revealed a global decline poor with highlights need for awareness systematic assessment order improve their health.
Refractory (RSE) and super-refractory status epilepticus (SRSE) are serious medical emergencies whose long-term outcomes depend on the timeliness of their management. Population-based clinical epidemiological data these conditions sparse. We aimed to provide a detailed description epidemiology course RSE SRSE in children adolescents identify potential prognostic biomarkers.
Abstract Objective . ADCK3‐related disease is a mitochondrial disorder associated with an abnormality of coenzyme Q 10 metabolism. Ataxia and epilepsy are common, the phenotype overlaps other encephalopathies, particularly POLG‐related disease. CoQ supplementation may be beneficial. We have noted remarkable epileptiform pattern in encephalopathy, since EEG studies this rare condition limited, we wished to assess evolution characteristics patients disorder. Methods All recordings four known...