A5069103960- Glycogen Storage Diseases and Myoclonus
- Neurological disorders and treatments
- Genetics and Neurodevelopmental Disorders
- Transcranial Magnetic Stimulation Studies
- Autoimmune Neurological Disorders and Treatments
- Epilepsy research and treatment
- Muscle activation and electromyography studies
- Pain Mechanisms and Treatments
- Pancreatic function and diabetes
- Lysosomal Storage Disorders Research
- Botulinum Toxin and Related Neurological Disorders
- Genetic Syndromes and Imprinting
- Neuroscience and Neural Engineering
- Neurological and metabolic disorders
- Parkinson's Disease Mechanisms and Treatments
- Advanced MRI Techniques and Applications
- Protein Tyrosine Phosphatases
- Diabetes and associated disorders
- Trigeminal Neuralgia and Treatments
- Cystic Fibrosis Research Advances
- Advanced Neuroimaging Techniques and Applications
- Genetic Associations and Epidemiology
- EEG and Brain-Computer Interfaces
- Pain Management and Treatment
- Facial Nerve Paralysis Treatment and Research
Kuopio University Hospital
2011-2023
University of Eastern Finland
2010-2023
Varsinais-Suomen Sairaanhoitopiiri
2020
Turku University Hospital
2020
ERN EpiCARE
2020
University of Turku
2020
North Karelia Central Hospital
2020
University of Helsinki
2015
Neurology, Inc
2011
This Finnish nationwide study aimed to refine the clinical phenotype variability and identify factors that could explain extensive in severity of symptoms observed among patients with Unverricht-Lundborg disease (progressive myoclonus epilepsy type 1 [EPM1]) homozygous for dodecamer expansion mutation cystatin B (CSTB) gene.The population consisted 66 (33 men 33 women) genetically confirmed EPM1 CSTB whom sizes expanded alleles were determined. The evaluation included videorecorded Unified...
Purpose To study white matter (WM) changes in patients with Unverricht-Lundborg progressive myoclonus epilepsy (EPM1) caused by mutations the cystatin B gene and B-deficient (Cstb−/−) mouse model to validate imaging findings histopathologic analysis of mice. Materials Methods Informed consent was obtained approved an institutional ethics committee. Animal work Experiment Board Finland. Diffusion-tensor tract-based spatial statistics (TBSS) were used compare fractional anisotropic (FA)...
<h3>BACKGROUND AND PURPOSE:</h3> EPM1, caused by mutations in the <i>CSTB</i> gene, is most common form of PME. The incapacitating symptom EPM1 action-activated and stimulus-sensitive myoclonus. clinical severity disease varies considerably among patients, but so far, no correlations have been observed between quantitative structural changes brain parameters such as duration disease, age at onset, or myoclonus severity. aim this study was to evaluate possible CTH patients with compared...
Unverricht-Lundborg disease (EPM1) is caused by mutations in the cystatin B (CSTB) gene. Most patients are homozygous for expanded dodecamer repeat mutation alleles, but 9 other EPM1-associated have also been identified. We describe clinical, cognitive and imaging characteristics of 5 Finnish EPM1 who compound heterozygous expansion c.202C>T mutations.Five 21 mutation, participating an ongoing nationwide clinical molecular genetics study, were evaluated using Unified Myoclonus Rating Scale...
Abstract Patients with Unverricht–Lundborg disease, also referred to as progressive myoclonus epilepsy type 1, exhibit widespread motor symptoms and signs in addition epileptic seizures, which suggest abnormal excitability of the primary pathways. To explore plasticity sensory–motor cortex, we employed a modern neurophysiological method, paired associative stimulation protocol, resembles concept long‐term potentiation experimental studies. Seven patients genetically verified disease 13...
ABSTRACT Unverricht‐Lundborg disease is the most common form of progressive myoclonus epilepsies. In addition to generalized seizures, it characterized by myoclonus, which usually disabling feature disease. Classically, has been attributed increased excitability primary motor cortex. However, inhibitory cortical phenomena have also described along with anatomical alterations. We aimed characterize relationship between and anatomy cortex their association severity clinical symptoms. Seventy...
Progressive myoclonic epilepsy type 1 (EPM1) is caused by biallelic alterations in the CSTB gene, most commonly dodecamer repeat expansions. Although transcranial magnetic stimulation (TMS)-induced long-interval intracortical inhibition (LICI) was previously reported to be normal EPM1, short-interval (SICI) reduced. We explored association between these measures and clinical genetic features a separate group of patients with EPM1.TMS combined electromyography performed under neuronavigation....
To investigate the epidemiology and prognosis of Unverricht-Lundborg disease (EPM1) in a nationwide, population-based setting.Data from multiple registries were combined analyzed. Clinical data obtained medical records. All patients treated for EPM1 Finland between January 1, 1998, December 31, 2016 included.A total 135 persons with (54% women) identified 105 alive on (point prevalence 1.91/100,000 persons). The age-standardized (European Standard Population 2013) was 1.53/100,000 persons....
We conducted an open-label cross-over study assessing the global effect of two high-frequency protocols electric-field navigated repetitive transcranial magnetic stimulation (rTMS) targeted to functional facial motor cortex and comparing their efficacy tolerability in patients with chronic pain. Outcome predictors were also assessed.We randomized twenty consecutive pain (post-traumatic trigeminal neuropathic pain, n=14; persistent idiopathic n=4; secondary neuralgia, n=2) receive distinct...
The aim of this neuropsychological study a large cohort patients with progressive myoclonus epilepsy type 1 (Unverricht-Lundborg disease, EPM1) was to characterize the cognitive function EPM1 and explore association between disability caused by disease performance.Sixty-eight genetically verified homozygous for expansion mutation in CSTB gene (37 males 31 females aged 35 ± 11) participated assessment intellectual ability, verbal memory, executive psychomotor function. clinical evaluation...
Progressive myoclonic epilepsy, type 1A (EPM1, Unverricht-Lundborg disease), is a rare neurodegenerative autosomal recessive disorder characterized by stimulus-sensitive and action myoclonus tonic-clonic epileptic seizures. Patients develop neurological symptoms, including ataxia, intention tremor, dysarthria, over time, with relatively limited nonspecific MRI atrophy findings. The effects of the disease on brain metabolism are largely unknown.Eighteen EPM1 patients (9 M, 9F) underwent...
To develop and test wearable monitoring of surface electromyography motion for detection quantification positive negative myoclonus in patients with progressive myoclonic epilepsy type 1 (EPM1).Surface three-dimensional acceleration were measured from 23 EPM1 the biceps brachii (BB) dominant extensor digitorum communis (EDC) non-dominant arm 48 hours. The self-reported degree a diary once an hour. Severity action was evaluated by using video-recorded Unified Myoclonus Rating Scale (UMRS)....
Unverricht-Lundborg disease (EPM1) is associated with progressive functional and anatomic changes in the thalamus motor cortex. The neurophysiological mechanisms behind impaired thalamocortical system were studied through short-term adaptation of cortex to transcranial magnetic stimulation (TMS) via repetition suppression (RS) phenomenon. RS considered be related neural processing external stimuli. We hypothesized that this progressively EPM1 from adolescence adulthood. Eight adult patients...
Progressive myoclonic epilepsy type 1 (EPM1) is an autosomal recessive disorder caused by mutations in the cystatin B gene (CSTB). Affected individual's manifest stimulus-sensitive and action myoclonus tonic-clonic epileptic seizures. In this study, we have generated iPSCs from EPM1 patient's skin fibroblasts with Sendai virus mediated transgene delivery. The retained patient specific promoter region expansion mutation, expressed pluripotency markers, differentiated into all three germ...
The aim of this study was to develop a feasible method for the detection negative myoclonus (NM) through long-term home measurements in patients with progressive epilepsy type 1.
Purpose: Progressive myoclonic epilepsy, type 1A (EPM1, Unverricht-Lundborg disease), is a rare neurodegenerative autosomal recessive disorder characterized by stimulus-sensitive and action myoclonus tonic-clonic epileptic seizures. Patients develop neurological symptoms, including ataxia, intention tremor, dysarthria, over time, with relatively limited nonspecific MRI atrophy findings. The effects of the disease on brain metabolism are largely unknown.Method: Eighteen EPM1 patients (9M, 9F)...