A5087075572- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- ATP Synthase and ATPases Research
- Muscle Physiology and Disorders
- Diet and metabolism studies
- Genetics and Neurodevelopmental Disorders
- Biochemical Acid Research Studies
- Neurogenetic and Muscular Disorders Research
- Genomics and Rare Diseases
- Prosthetics and Rehabilitation Robotics
- Innovations in Medical Education
- Retinal Development and Disorders
- Family and Disability Support Research
- Fibroblast Growth Factor Research
- RNA modifications and cancer
- Genetic and Kidney Cyst Diseases
- Ion Transport and Channel Regulation
- Scoliosis diagnosis and treatment
- Cellular transport and secretion
- Lysosomal Storage Disorders Research
- Treatment of Major Depression
- Adolescent and Pediatric Healthcare
- Epilepsy research and treatment
- Congenital heart defects research
- Genetic Syndromes and Imprinting
University of Gothenburg
2014-2024
Sahlgrenska University Hospital
2009-2024
Region Västra Götaland
2021-2024
Drottning Silvias barn- och ungdomssjukhus
2014-2017
University of Crete
2017
Boston Children's Hospital
2006
Leigh syndrome is a progressive neurodegenerative disorder, associated with primary or secondary dysfunction of the mitochondrial oxidative phosphorylation. Despite fact that most common phenotype disorders in children, longitudinal natural history data missing. This study was undertaken to assess phenotypic and genotypic spectrum patients syndrome, characterise clinical course identify predictors survival large cohort patients.This retrospective have been followed at eight centers...
Abstract Objectives Our aime was to study the short‐ and long‐term effects of ketogenic diet on disease course disease‐related outcomes in patients with pyruvate dehydrogenase complex deficiency, metabolic factors implicated treatment outcomes, potential safety compliance issues. Methods Pediatric diagnosed deficiency Sweden treated were evaluated. Study assessments at specific time points included developmental neurocognitive testing, patient log books, investigator parental questionnaires....
Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and characterized by diffuse degeneration of cerebral gray matter. While mutations POLG1, the gene encoding gamma subunit mitochondrial DNA polymerase, have been associated with liver failure (Alpers–Huttenlocher syndrome), genetic cause most patients remains unidentified. With whole exome sequencing we identified NARS2 PARS2, genes asparaginyl- prolyl-tRNA synthetases, two syndrome. One...
Variants in the KIF1A gene can cause autosomal recessive spastic paraplegia 30, hereditary sensory neuropathy, or (de novo) dominant mental retardation type 9. More recently, variants have also been described a few cases with paraplegia. Here, we describe 20 24 patients from clinical exome sequencing cohort of 347 individuals mostly 'pure' In these patients, was slowly progressive and pure, but highly variable disease onset (0-57 years). Segregation analyses showed de novo occurrence seven...
Background Leigh syndrome is a phenotypically and genetically heterogeneous mitochondrial disorder. While some genetic defects are associated with well-described phenotypes, phenotype-genotype correlations in not fully explored. Objective We aimed to identify large cohort of systematically evaluated patients. Methods studied 96 patients confirmed diagnosed followed eight European centres specialising diseases. Results found that ataxia, ophthalmoplegia cardiomyopathy were more prevalent...
Abstract Background Duchenne muscular dystrophy (DMD) is a neuromuscular disorder with progressive decline of pulmonary function increasing the risk early mortality. The aim this study was to explore respiratory-related comorbidities, and effect these comorbidities treatments on life expectancy causes death. Methods All male patients living in Sweden DMD, born deceased 1970–2019, were included. Data regarding death collected from Cause Death Registry cross-checked medical records along...
Duchenne muscular dystrophy (DMD) is a severe neuromuscular disorder with increasing life expectancy from late teens to over 30 years of age. The aim this nationwide study was explore the prevalence, and leading causes death in patients DMD Sweden. Patients were identified through National Quality Registry for Neuromuscular Diseases Sweden, Swedish Respiratory Failure, pathology laboratories, neurology respiratory clinics, national network diseases. Age cause retrieved Cause Death...
Abstract Background and purpose Pyruvate dehydrogenase complex deficiency is in up to 90% caused by pathogenic variants the X‐linked PDHA1 gene. We aimed investigate female relatives of index patients with ‐related disease (i) describe prevalence carriers, (ii) determine whether they had symptoms signs, (iii) delineate associated phenotype. Methods In a national population‐based study, we identified 37 . Sanger sequencing for presence variant was performed their mothers relatives. The...
Lysosomal storage diseases, including mucopolysaccharidoses, result from genetic defects that impair lysosomal catabolism.Here, we describe two patients independent families presenting with progressive psychomotor regression, delayed myelination, brain atrophy, neutropenia, skeletal abnormalities, and mucopolysaccharidosis-like dysmorphic features.Both were homozygous for the same intronic variant in VPS16, a gene encoding subunit of HOPS CORVET complexes.The impaired normal mRNA splicing...
Abstract Background CLN3 disease is a neurodegenerative condition presenting in the first decade of life typically leading to death third decade. The earliest symptom rapidly progressive visual impairment followed by intellectual and motor impairments, epilepsy behavioural disturbances. There are limited data on how affects family system or role resilience paediatric diseases. Methods Semi‐structured interviews were conducted with eight parents (five mothers three fathers) five children...
Costic acid has been isolated from the plant Dittrichia viscosa and its efficacy against Varroa destructor, a parasite of Apis mellifera, European honey bee, studied. exhibited potent in vivo acaricidal activity parasite. Initial experiments showed that compound is not toxic for human umbilical vein endothelial cells (HUVEC) at concentrations up to 230 micromolar (μM), indicating costic could be used as safe, low-cost efficient agent controlling varroosis bee colonies.
The vast clinical and radiological spectrum of pyruvate dehydrogenase complex (PDHc) deficiency continues to pose challenges both in diagnostics disease monitoring. Prompt diagnosis is important enable early initiation ketogenic diet. patients were recruited from an ongoing population-based study Sweden. All with a genetically confirmed who had been investigated MRI the brain included. Repeated investigations assessed evolution changes. Sixty-two performed 34 (23 females). genetic cause was...
The phenotypic variability of NARS2 associated disease is vast, yet not thoroughly explored. We present the and genetic features 2 siblings with early-onset mitochondrial encephalopathy due to pathogenic variant in NARS2, along results from a systematic literature review.To better delineate natural history disease.The clinical radiological phenotype, morphological biochemical investigations muscle biopsy as well postmortem investigations, where applicable, are presented. Genetic analysis was...
Abstract Introduction Ataluren is a relatively new treatment for male patients with Duchenne muscular dystrophy (DMD) due to premature stop codon. Long-term longitudinal data as well efficacy on non-ambulant are still lacking. Here we present the results from long-term follow-up study of all DMD treated ataluren and followed at Queen Silvia Children’s Hospital in Gothenburg, Sweden, focus evolution patients’ upper motor respiratory function over time. Methods This retrospective case-series...
To describe ophthalmological characteristics in children with Leigh syndrome (LS), an inherited, progressive, mitochondrial encephalomyopathy, at diagnosis and over time, relate the results to causative genetic mutations.Forty-four LS (19 females), a median age of 2.4 years (range: 0.6-14.2 years) diagnosis, were studied Queen Silvia Children's Hospital, Gothenburg, Sweden. Twenty-eight had known defects. The underwent examination, including visual acuity (VA), eye motility, refraction, slit...
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.