A5046315831- RNA regulation and disease
- Spine and Intervertebral Disc Pathology
- Mitochondrial Function and Pathology
- Advanced MRI Techniques and Applications
- Lysosomal Storage Disorders Research
- Fetal and Pediatric Neurological Disorders
- Musculoskeletal pain and rehabilitation
- Traumatic Brain Injury and Neurovascular Disturbances
- Epilepsy research and treatment
- Advanced Neuroimaging Techniques and Applications
- Medical Imaging and Analysis
- Cerebrovascular and Carotid Artery Diseases
- Intracerebral and Subarachnoid Hemorrhage Research
- HIV Research and Treatment
- Neonatal and fetal brain pathology
- Metabolism and Genetic Disorders
- RNA Research and Splicing
- Cerebrospinal fluid and hydrocephalus
- Genetic Neurodegenerative Diseases
- Genetics and Neurodevelopmental Disorders
- Infectious Diseases and Tuberculosis
- Nuclear Structure and Function
- Traumatic Brain Injury Research
- Neuroinflammation and Neurodegeneration Mechanisms
- Glioma Diagnosis and Treatment
Uppsala University
2010-2025
Université Claude Bernard Lyon 1
2019
Pitié-Salpêtrière Hospital
2019
Sorbonne Université
2019
Hospices Civils de Lyon
2019
British Columbia Children's Hospital
2019
University of Washington
2019
Centre National de la Recherche Scientifique
2019
Uppsala University Hospital
1999-2011
Centro de Genética Clínica
2011
Cross-sectional magnetic resonance imaging (MRI) study.To study the relation of low back pain (LBP) to disc degeneration in lumbar spine.Controversy still prevails about relationship between and LBP. Classification symptoms varies, hampering comparison results.Subjects comprised 164 men aged 40-45 years-53 machine drivers, 51 construction carpenters, 60 office workers. The data different types LBP, individual characteristics, lifestyle factors were obtained from a questionnaire structured...
<h3>• Objective.</h3> —To evaluate the association between white matter changes (leukoaraiosis [LA]) seen on magnetic resonance imaging and cognitive functions. <h3>Design.</h3> —Survey of cohorts neurologically healthy elderly subjects derived consecutively from a populationbased random sample. <h3>Setting.</h3> —General community, Helsinki (Finland) Aging Brain Study. <h3>Subjects.</h3> —Cohorts aged 55, 60, 65, 70, 75, 80, 85 years (n=20,18,19,18, 17, 11 subjects, respectively; total...
Background and Purpose We undertook this study to evaluate the frequency risk factors of white matter hyperintensities seen on T 2 -weighted MR imaging. examined cohorts neurologically nondiseased elderly subjects participating in a general-community study, Helsinki (Finland) Aging Brain Study. Cohorts consecutive aged 55, 60, 65, 70, 75, 80, 85 years (n=20, 18, 20, 19, 15, respectively; total, n=128) were divided into young-old (age <75 years, n=76) group an old-old ≥75 n=52) group....
To relate the expression of HIV regulatory proteins and HIV-specific mRNA in brain cells infected individuals with clinical neurological disease.Formalin-fixed postmortem tissue from 14 HIV-infected adult patients, previous repeated neuroradiological examinations, was studied by immunohistochemical molecular biological methods. Samples non-infected brains served as controls.Immunohistochemistry monoclonal antibodies (MAb) combined situ RNA hybridization. Target were identified MAb to glial...
<i>Background:</i> Nasu-Hakola disease or polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is a genetically heterogeneous characterized by combination of systemic bone cysts and dementia. <i>Objective:</i> The authors present neurologic, neuroradiologic, neuropathologic analysis series PLOSL patients in which the diagnosis has been confirmed molecular genetic methods. <i>Methods:</i> Clinical, neurophysiologic, imaging follow-up data on eight as well...
Cross-sectional magnetic-resonance imaging (MRI) study. OBJECTIVE To investigate the relation of lumbosacral transitional vertebra to signs disc degeneration in MRI and low back pain (LBP).An association between herniation above has been found patients with LBP, but knowledge other degenerative changes detected LBP is lacking.MR images lumbar spine 138 middle-aged working men 25 healthy young were evaluated. The presence type intervertebral discs history symptoms was obtained a questionnaire...
Enzymatic breakdown of the extracellular matrix, and possibly local inflammation, contributes to intervertebral disc degeneration. We investigated whether polymorphisms within IL-1 gene locus are associated with lumbar degeneration effect occupational physical load on is modified by polymorphisms.Genotypes were determined from 133 middle-aged men who underwent magnetic resonance imaging spine. The participants represented 3 occupations: 40 machine drivers, 42 carpenters, 51 office workers....
A cross-sectional magnetic resonance imaging (MRI) study of degeneration the lumbar spine.To compare usefulness disc height and that T2-weighted signal intensity as indicators degeneration.Disc have been used for degeneration. Their relation to each other early has not well documented. There is evidence physical load can affect height.Forty-one machine operators, 41 construction carpenters, 46 office workers, aged 40-45 years, 22 students 18-20 years were examined with sagittal imaging. All...
Based on a hypothesis that interleukin 1 (IL-1) activity is associated with low back pain (LBP), we investigated relationships between previously described functional IL-1 gene polymorphisms and LBP. The subjects were subgroup of Finnish study cohort. IL-1alpha(C(889)-T), IL-1beta(C(3954)-T) receptor antagonist (IL-1RN)(G(1812)-A, G(1887)-C T(11100)-C) genotyped in 131 middle-aged men from three occupational groups (machine drivers, carpenters office workers). A questionnaire inquired about...
Clinical outcome after traumatic diffuse axonal injury (DAI) is difficult to predict. In this study, three magnetic resonance imaging (MRI) sequences were used quantify the anatomical distribution of lesions, grade DAI according Adams grading system, and evaluate value lesion localization in combination with clinical prognostic factors improve prediction. Thirty patients (mean 31.2 years ±14.3 standard deviation) severe (Glasgow Motor Score [GMS] <6) examined MRI within 1 week post-injury...
Magnetic resonance imaging (MRI) of the brain and spinal cord is gold standard for assessing disease activity in multiple sclerosis (MS). MRI an excellent instrument determination accumulated damage to cord, but tells us little about ongoing tissue damage. In this study, biomarkers oligodendrocyte, axonal astrocyte injury were related clinical findings used assess MS.Cerebrospinal fluid from 44 patients with relapsing-remitting MS, 20 secondary progressive MS 15 controls investigated ELISA...
Study Design. Cross-sectional. Objectives. To evaluate the interaction between COL9A3 gene polymorphism and persistent obesity in relation to lumbar disc degeneration. Summary of Background Data. Obesity has been suggested be a risk factor for There is some indication an association collagen IX genes disease characterized by sciatica. However, those factors their influences on degeneration not studied. Methods. Blood samples from 135 middle-aged men who had undergone magnetic resonance...
The CACNA1A gene encodes the pore-forming subunit of neuronal P/Q type Ca2+ channels. Mutations in this cause a spectrum neurologic diseases, including familial hemiplegic migraine (FHM) with or without ataxia.1 We report novel de novo mutation Swedish family. Three carriers had FHM and early onset ataxia; additional childhood epilepsy occurred two . The proband, II-3, is 54-year-old woman slowly progressive cerebellar ataxia since atrophy on CT. She was hospitalized at ages 7 8 because...
Intraobserver and interobserver reproducibility study.This study investigates the variability in interpretation of degenerative disc findings using magnetic resonance imaging.Magnetic imaging has been used for years clinical diagnostics, primarily to investigate herniation spinal stenosis. Less attention paid other their assessment reliability.Three independent readers evaluated images lumbar lower middle thoracic spines 122 subjects by grading 12 aspects intervertebral discs adjacent...
Objectives The aim was to study risk factors of lumbar disc degeneration demonstrable with magnetic resonance imaging (MRI) special emphasis on occupational load and back accidents. Methods subjects in this cross-sectional were 53 machine drivers, 51 construction carpenters, 60 municipal office workers aged 40-45 years. Data possible available from current structured questionnaires for 4 7 years retrospect. prevalence L2/L3-L5/S1 determined MRI. Results An increased found posterior bulges...
A series of five patients with a variant type Jansky-Bielschowsky disease is presented. The initiated between four and half seven years mental slight motor symptoms. additional neurological symptoms signs, i. e. visual failure, retinal degeneration, ataxia, myclonia epilepsy developed in all children before the age ten years.
The role of non-coding regulatory elements and how they might contribute to tissue type specificity disease phenotypes is poorly understood. Autosomal Dominant Leukodystrophy (ADLD) a fatal, adult-onset, neurological disorder that characterized by extensive CNS demyelination. Most cases ADLD are caused tandem genomic duplications involving the lamin B1 gene (LMNB1) while small subset deletions upstream gene. Utilizing data from recently identified families carry LMNB1 but do not exhibit...
Abstract Purpose To compare intravoxel incoherent motion (IVIM) imaging to dynamic susceptibility-weighted contrast (DSC) perfusion MRI in differentiating tumor recurrence from treatment-induced changes. Methods Our prospective study included patients previously treated with radiotherapy for intracranial tumors who later developed a new or increasing contrast-enhancing lesion. The final diagnosis was based on neuropathology 6-month follow-up. MR examinations were performed calculation of the...
Abstract A total of 36 patients with Batten disease (juvenile‐onset neuronal ceroid lipofuscinosis), homozygous or heterozygous for the major mutation, a 1.02‐kb deletion, in CLN3 gene, were studied to relate their genotype clinical phenotype. The onset visual failure and epilepsy was highly concordant both groups. Great inter intrafamilial heterogeneity demonstrated development mental physical handicap magnetic resonance imaging findings among patients. deletion form always associated...
In Brief Study Design. Cross-sectional study. Objective. To examine the association between an aggrecan variable number of tandem repeats (VNTR) polymorphism and intervertebral disc degeneration in middle-aged Finnish men. Summary Background Data. An VNTR multilevel has been previously reported young Japanese women. Methods. Lumbar discs 132 men representing 3 occupations (carpenters, machine drivers, office workers) were evaluated on magnetic resonance imaging, using decreased signal...