A5055605734- Muscle Physiology and Disorders
- Cardiomyopathy and Myosin Studies
- Genetic Neurodegenerative Diseases
- Neurogenetic and Muscular Disorders Research
- Amyotrophic Lateral Sclerosis Research
- RNA Research and Splicing
- Mitochondrial Function and Pathology
- Nuclear Structure and Function
- Epilepsy research and treatment
- Inflammatory Myopathies and Dermatomyositis
- Neurological diseases and metabolism
- Neuroscience and Neuropharmacology Research
- Ion channel regulation and function
- Metabolism and Genetic Disorders
- Hereditary Neurological Disorders
- Myasthenia Gravis and Thymoma
- Neuroinflammation and Neurodegeneration Mechanisms
- Genomics and Rare Diseases
- Endoplasmic Reticulum Stress and Disease
- Heat shock proteins research
- S100 Proteins and Annexins
- Cardiovascular Effects of Exercise
- Cellular Mechanics and Interactions
- Ubiquitin and proteasome pathways
- Parkinson's Disease Mechanisms and Treatments
Tampere University Hospital
2015-2025
Tampere University
2016-2025
University of Helsinki
2012-2024
Vaasa Central Hospital
2015-2024
Helsinki University Hospital
2015-2024
Fimlab (Finland)
2015-2024
Kuopio University Hospital
2023-2024
University of Eastern Finland
2024
Finnish Medical Society Duodecim
2024
University of Turku
2019-2023
Autoantibodies to glutamic acid decarboxylase (GAD-A) are present in type 1 diabetes and stiff man syndrome (SMS), have also been reported cerebellar ataxia. Epilepsy was 4 of 19 patients with SMS GAD-A, implying that epilepsy sometimes is associated anti-GAD autoimmunity.The authors investigated the prevalence GAD-A therapy-resistant localization-related (n = 51) generalized 49) by a radiobinding assay. The positive samples were confirmed immunohistochemistry immunoblotting recombinant...
To report novel disease and pathology due to HSPB8 mutations in 2 families with autosomal dominant distal neuromuscular showing both myofibrillar rimmed vacuolar myopathy together neurogenic changes.We performed whole-exome sequencing (WES) tandem linkage analysis candidate gene approach as well targeted next-generation (tNGS) identify causative a motor neuropathy. Pathogenic variants familial segregation were confirmed using Sanger sequencing.WES tNGS identified heterozygous change...
Description of 8 new ANO5 mutations and significant expansion the clinical phenotype spectrum associated with previously known unknown to improve diagnostic accuracy.DNA samples 101 patients in 95 kindreds at our quaternary referral center Finland, who had undetermined limb-girdle muscular dystrophy (LGMD), calf distal myopathy, or creatine kinase (CK) elevations more than 2,000 IU/L, were selected for genetic evaluation, findings retrospectively analyzed.A total 25 caused by 11 different...
Multisystem proteinopathy (MSP) involves disturbances of stress granule (SG) dynamics and autophagic protein degradation that underlie the pathogenesis a spectrum degenerative diseases affect muscle, brain, bone. Specifically, identical mutations in adaptor SQSTM1 can cause varied penetrance 4 distinct phenotypes: amyotrophic lateral sclerosis (ALS), frontotemporal dementia, Paget's disease bone, distal myopathy. It has been hypothesized clinical pleiotropy relates to additional genetic...
Neurofilament light (NFL) is one of the proteins forming multimeric neuron-specific intermediate filaments, neurofilaments, which fill axonal cytoplasm, establish caliber growth, and provide structural support. Dominant missense mutations recessive nonsense in neurofilament gene (
Abstract RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous terms of age onset, disease progression and phenotype. We investigated the role size influencing clinical variables disease. also assessed presence meiotic somatic instability repeat. In this study, we identified 553 patients carrying expansions measured 392 cases. Pearson’s coefficient was calculated to assess correlation between at onset. A Cox model with robust cluster standard errors adopted...
Experimental studies suggest increased cerebral production of inflammatory cytokines after prolonged seizures. Whether a single non-prolonged seizure in human patients is associated with activation cytokine network still unknown.We studied the levels interleukin-1beta (IL-1beta), interleukin-1 receptor antagonist (IL-1ra), interlukin-6 (IL-6) and soluble IL-6 receptors (sIL-6R Gp130) plasma seizures during video-EEG recordings chronic localization-related epilepsy.The IL-1ra were seizures,...
Laing early onset distal myopathy and myosin storage are caused by mutations of slow skeletal/β-cardiac heavy chain encoded the gene MYH7, as is a common form familial hypertrophic/dilated cardiomyopathy. The mechanisms which different phenotypes produced in even same region gene, not known. To explore clinical spectrum pathobiology, we screened MYH7 88 patients from 21 previously unpublished families presenting with or generalized skeletal muscle weakness, without cardiac involvement....
Several patients with previously reported titin gene (TTN) mutations causing tibial muscular dystrophy (TMD) have more complex, severe, or unusual phenotypes. This study aimed to clarify the molecular cause of variant phenotypes in 8 7 European families.Clinical, histopathological, and muscle imaging data family members were reanalyzed. The protein was analyzed by Western blotting TTN reverse transcription polymerase chain reaction (RT-PCR) Sanger sequencing.Western showed pronounced...
<h3>Objective</h3> Several families with characteristic features of hereditary myopathy early respiratory failure (HMERF) have remained without genetic cause. This international study was initiated to clarify epidemiology and the underlying cause in these families, characterise phenotype our large cohort. <h3>Methods</h3> DNA samples all currently known HMERF molecular were obtained from 12 seven different countries. Clinical, histopathological muscle imaging data collected five biopsy made...
Abstract Background The symptoms and their progression in amyotrophic lateral sclerosis (ALS) are typically studied after the diagnosis has been confirmed. However, many people with ALS already have severe dysarthria loss of adequate speech at time diagnosis. Speech‐and‐language therapy interventions should be targeted timely based on communicative need ALS. Aims To investigate how long natural will remain functional to identify changes persons Methods & Procedures Altogether 30...
Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG SGCD genes. In 2016, several clinicians involved diagnosis, management care patients with LGMDR3-6 created a European Sarcoglycanopathy Consortium. The aim present study was to determine clinical genetic spectrum large cohort sarcoglycanopathy Europe. This an observational retrospective...
Nemaline myopathy (NM) is one of the most common non-dystrophic genetic muscle disorders. NM often associated with mutations in NEB gene. Even though exact NEB-NM pathophysiological mechanisms remain unclear, histological analyses patients' biopsies reveal unexplained accumulation glycogen and abnormally shaped mitochondria. Hence, aim present study was to define molecular cellular cascade events that would lead potential changes energetics NEB-NM. For that, we applied a wide range...
Objectives: Electroconvulsive therapy (ECT) is regarded as an effective treatment of drug-resistant depression, but its mechanism action mostly unknown. We have previously reported that epileptic seizures result in cerebral production cytokines, which are also reflected the plasma. In this study, we tested whether ECT associated with similar acute release cytokines. Methods: The plasma levels cytokines interleukin (IL) 1β, IL-1 receptor antagonist, and IL-6 were measured using enzyme-linked...
Clinical and experimental studies have demonstrated that seizures can cause molecular cellular responses resulting in neuronal damage. At present, there are no valid tests for assessing organic damage to the brain associated with seizure. The aim of this study was investigate cerebrospinal fluid (CSF) plasma concentrations Ubiquitin carboxy-terminal hydrolase L1 (UCH-L1), a sensitive indicator acute injury neurons, patients tonic-clonic or partial secondarily generalized due various...
Limb girdle muscular dystrophies are a large group of both dominantly and recessively inherited muscle diseases. LGMD1D is caused by mutated DNAJB6 the molecular pathogenesis mediated defective chaperonal function leading to impaired handling misfolded proteins which normally would be degraded. Here we aim clarify pathology in order facilitate diagnostic accuracy. After following six Finnish families, analysed 21 biopsies obtained from 15 patients at different time points after onset...
Hereditary myopathy with early respiratory failure (HMERF) is caused by titin A-band mutations in exon 344 and considered quite rare. Respiratory insufficiency an symptom. A collection of families patients muscle disease suggestive HMERF was clinically genetically studied. Altogether 12 new 19 affected diverse nationalities were Most the investigated using targeted next-generation sequencing; Sanger sequencing applied some available family members. Histological data MRI findings evaluated....