A5023722090- Mitochondrial Function and Pathology
- Neonatal and fetal brain pathology
- Epilepsy research and treatment
- Cerebrovascular and Carotid Artery Diseases
- Metabolism and Genetic Disorders
- Advanced MRI Techniques and Applications
- Acute Ischemic Stroke Management
- Infectious Encephalopathies and Encephalitis
- Herpesvirus Infections and Treatments
- Glioma Diagnosis and Treatment
- Cardiovascular Health and Disease Prevention
- Functional Brain Connectivity Studies
- RNA regulation and disease
- Craniofacial Disorders and Treatments
- Spinal Dysraphism and Malformations
- Fetal and Pediatric Neurological Disorders
- Neurological Complications and Syndromes
- Mosquito-borne diseases and control
- Intracranial Aneurysms: Treatment and Complications
- Schizophrenia research and treatment
- Atomic and Subatomic Physics Research
- Infant Development and Preterm Care
- RNA Research and Splicing
- Congenital heart defects research
- Advanced Neuroimaging Techniques and Applications
University of Helsinki
2012-2021
Helsinki University Hospital
2012-2021
Hospital District of Helsinki and Uusimaa
2008-2020
Imaging Center
2004-2019
National Institute for Physiological Sciences
2016
National Institutes of Natural Sciences
2016
Institute for Molecular Medicine Finland
2015-2016
Pediatrics and Genetics
2015
Yale University
2015
University of Amsterdam
2015
Background: Cortical gray matter reductions and cerebrospinal fluid (CSF) increases are robust correlates of schizophrenia, but their relationships to obstetric other etiologic risk factors remain be established.Methods: Structured diagnostic interviews, hospital records, magnetic resonance imaging scans the brain were obtained for 64 schizophrenic or schizoaffective patients (representative all such probands in a Helsinki, Finland, birth cohort), along with 51 nonpsychotic full siblings 54...
<h3>Background</h3> Cortical gray matter volume reductions and cerebrospinal fluid (CSF) increases are robust correlates of schizophrenia, but their sources have not been established conclusively. <h3>Methods</h3> Structured diagnostic interviews magnetic resonance imaging scans the brain were obtained on 75 psychotic probands (63 with schizophrenia 12 schizoaffective disorder), ascertained so as to be representative all such in a Helsinki, Finland, birth cohort; 60 nonpsychotic full...
The authors examined in an epidemiologic sample the contributions of genetic predisposition and history fetal hypoxia to hippocampal volume patients with psychosis.High-resolution magnetic resonance imaging was used measure volumes 72 psychotic probands (60 schizophrenia 12 schizoaffective disorder, ascertained so as be representative all such a Helsinki birth cohort), 58 nonpsychotic full siblings probands, 53 demographically similar healthy comparison subjects no family...
Abstract Background Kallmann syndrome (KS), comprised of congenital hypogonadotropic hypogonadism (HH) and anosmia, is a clinically genetically heterogeneous disorder. Its exact incidence currently unknown, mutation in one the identified KS genes has only been found ~30% patients. Methods Herein, we investigated epidemiological, clinical, genetic features Finland. Results The minimal estimate Finland was 1:48 000, with clear difference between males (1:30 000) females (1:125 ( p = 0.02)....
Next-generation sequencing has turned out to be a powerful tool uncover genetic basis of childhood mitochondrial disorders. We utilized whole-exome analysis and discovered novel compound heterozygous mutations in FARS2 (mitochondrial phenylalanyl transfer RNA synthetase), encoding the (tRNA) synthetase (mtPheRS) two patients with fatal epileptic encephalopathy. The affected highly conserved amino acids, p.I329T p.D391V. Recently, homozygous variant p.Y144C was reported Saudi girl...
<h3>Importance</h3> Evidence from preclinical models indicates that xenon gas can prevent the development of cerebral damage after acute global hypoxic-ischemic brain injury but, thus far, these putative neuroprotective properties have not been reported in human studies. <h3>Objective</h3> To determine effect inhaled on ischemic white matter assessed with magnetic resonance imaging (MRI). <h3>Design, Setting, and Participants</h3> A randomized single-blind phase 2 clinical drug trial...
<b><i>Background:</i></b> Three rare autosomal recessive disorders share the combination of congenital muscular dystrophy and brain malformations including a neuronal migration defect: muscle–eye-brain disease (MEB), Walker–Warburg syndrome (WWS), Fukuyama (FCMD). In addition, ocular abnormalities are constant feature in MEB WWS. Lack consistent FCMD has allowed clear clinical demarcation this syndrome, whereas phenotypic distinction between WWS remained controversial. The gene is located on...
This study examined 17 children (nine males, eight females; mean age 13 years) with prenatal alcohol exposure of various durations. The aim the was to detect specific brain morphological alterations by means MRI and see if findings correlated particular cognitive deficits. Of children, five had been exposed heavy maternal consumption (over 10 drinks/week) during first trimester only; four second trimester; throughout pregnancy. Five related neurobehavioural disorder, seven were diagnosed as...
The authors reorganized the emergency room (ER) by moving CT to ER and streamlining triage prenotification medical services (EMS), which reduced in-hospital delays enhanced access stroke thrombolysis. delay dropped from 1 hour 3 minutes +/- 14 in 1999 7 2 2004 (p < 0.0001). Door-to-needle time 28 50 0.001), while symptom-to-needle hours 44 6 5 4 From 23 patients 1999, thrombolysis was increased 100 183 2005.
Context:The effects of genes and environment on brain abnormalities in schizophrenia remain unclear.Objective: To examine the contributions to hippocampal volume reduction schizophrenia.Design: Population-based twin
Autosomal dominant progressive external ophthalmoplegia (adPEO) is a mitochondrial disease characterized by accumulation of multiple large deletions mtDNA in patients9 tissues. We previously showed that the genetically heterogeneous assigning two nuclear loci predisposing to deletions: one on chromosome 10q 23.3–24.3 Finnish family and 3p 14.1–21.2 three Italian families. To reveal any locus-specific features, we report here clinical, biochemical, molecular genetic characteristics 10q-linked...
Abstract: Patient and graft survival rates of pediatric renal transplant recipients are currently excellent, but there few reports regarding the long‐term neurodevelopmental outcome after transplantation (Tx) in early childhood. Children with failure from infancy would be expected to have a less favorable developmental prognosis. We report 33 school‐age children transplanted between 1987 1995 when < 5 yr age. prospectively performed neurological examination, magnetic resonance imaging...
The C10orf2 gene encodes the mitochondrial DNA helicase Twinkle, which is one of proteins important for maintenance. Dominant mutations cause multiple deletions and progressive external ophthalmoplegia, but recent findings associate recessive with depletion encephalopathy or hepatoencephalopathy. latter clinical phenotypes resemble those associated POLG1 mutations. We have previously described patients infantile onset spinocerebellar ataxia (MIM271245) caused either by homozygous (Y508C)...
PURPOSE: To assess proton magnetic resonance (MR) spectroscopy in differentiating between low-grade gliomas and focal cortical developmental malformations (FCDMs). MATERIALS AND METHODS: Eighteen patients with seizures a brain lesion on MR images were studied spectroscopy. A metabolite ratio analysis was performed, the signals core compared those contralateral centrum semiovale corresponding sites 18 control subjects to separately obtain changes N-acetylaspartate (NAA), choline-containing...
Mitochondrial DNA depletion syndrome (MDS) is a severe recessively inherited disease of childhood. It manifests most often in infancy, rapidly progressive and leads to early death. MDS caused by an increasing number nuclear genes leading multisystemic or tissue-specific decrease mitochondrial (mtDNA) copy number. Thymidine kinase 2 (TK2) has been reported cause myopathic form MDS. We report here the clinical, autopsy molecular genetic findings fatal infantile syndrome. All our seven patients...
Purpose: We analyzed clinical and electroencephalography (EEG) outcomes of 13 patients with pharmacoresistant encephalopathy electrical status epilepticus during sleep (ESES) following epilepsy surgery. Methods: All had symptomatic etiology ESES preoperative neuropsychological deterioration. Ten daily atypical absences. Clinical outcome was assessed at 6 months 2 years after EEG data were reviewed retrospectively. The spike propagation pattern area source strength in montage from...
Dravet syndrome is an autosomal dominant epileptic encephalopathy of childhood, which caused mainly by SCN1A and PCHD19 mutations. Although well recognized, the causes acute are still elusive, reported data on ictal electroencephalography (EEG) structural brain abnormalities scarce.We studied 30 children who fulfilled clinical criteria for syndrome. All patients were screened mutations 25 POLG with bidirectional sequencing. Clinical data, including etiologic studies done as part workup,...
We aimed to decipher the molecular genetic basis of disease in a cohort children with uniform clinical presentation neonatal irritability, spastic or dystonic quadriplegia, virtually absent psychomotor development, axonal neuropathy, and elevated blood/CSF lactate.We performed whole-exome sequencing blood DNA from index patients. Detected compound heterozygous mutations were confirmed by Sanger sequencing. Structural predictions bacterial activity assay evaluate functional consequences...
Abstract We studied 14 individuals with partial deletions of the long arm chromosome 18, including terminal and interstitial de novo inherited deletions. Study participants were examined clinically by brain MRI. The size deletion was determined segregation analysis using microsatellite markers. observed that phenotype highly variable, even in two families three 1st degree relatives. Among individuals, general intelligence varied from normal to severe mental retardation. more common features...
<b>Background: </b> Extensive cerebral calcifications and leukoencephalopathy have been reported in two rare disorders Coats plus with cysts. In the latter, a progressive formation of parenchymal brain cysts is special feature, whereas characterized by intrauterine growth retardation, bilateral retinal telangiectasias exudations (Coats disease), sparse hair, dysplastic nails without cyst formation. <b>Methods: We identified 13 patients, including pairs siblings, extensive...
<h3>Background</h3> Leucoencephalopathy with brain stem and spinal cord involvement high lactate (LBSL) was first defined by characteristic magnetic resonance imaging spectroscopic findings. The clinical features include childhood or juvenile onset slowly progressive ataxia, spasticity, dorsal column dysfunction, occasionally accompanied learning difficulties. Mutations in <i>DARS2</i>, encoding mitochondrial aspartyl-tRNA synthetase, were recently shown to cause LBSL. signs symptoms show...