Recent publications by researchers in the centre

Neuro-SysMed[Affiliation]

• Genetic Dominant Variants in <em>STUB1,</em> Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16 June 2, 2021
  Variants in STUB1 cause both autosomal recessive (SCAR16) and dominant (SCA48) spinocerebellar ataxia. Reports from 18 STUB1 variants causing SCA48 show that the clinical picture includes later-onset ataxia with a cerebellar cognitive affective syndrome and varying clinical overlap with SCAR16. However, little is known about the molecular properties of dominant STUB1 variants. Here, we describe […]
  Yasaman Pakdaman
• Updated Diagnostic Criteria for Paraneoplastic Neurologic Syndromes May 19, 2021
  CONCLUSIONS: The proposed criteria and recommendations should be used to enhance the clinical care of patients with PNS and to encourage standardization of research initiatives addressing PNS.
  Francesc Graus
• DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion May 6, 2021
  Mutations in POLG, encoding POLγA, the catalytic subunit of the mitochondrial DNA polymerase, cause a spectrum of disorders characterized by mtDNA instability. However, the molecular pathogenesis of POLG-related diseases is poorly understood and efficient treatments are missing. Here, we generate the PolgA449T/A449T mouse model, which reproduces the A467T change, the most common human recessive mutation […]
  Pedro Silva-Pinheiro
• Genome-wide histone acetylation analysis reveals altered transcriptional regulation in the Parkinson's disease brain May 5, 2021
  CONCLUSIONS: Our findings strongly suggest that aberrant histone acetylation and altered transcriptional regulation are involved in the pathophysiology of PD. We demonstrate that PD-associated genes are particularly prone to epigenetic dysregulation and identify novel epigenetic signatures associated with the disease.
  Lilah Toker
• Perinatal Depression and Anxiety in Women With Multiple Sclerosis: A Population-Based Cohort Study April 22, 2021
  CONCLUSION: Women diagnosed with MS have increased risk of perinatal depression. Women with MS symptom onset within 5 years after pregnancy have increased risk of both depression and anxiety during pregnancy.
  Karine Eid
• A characteristic occipital epileptiform EEG pattern in ADCK3-related mitochondrial disease April 21, 2021
  OBJECTIVE: ADCK3-related disease is a mitochondrial disorder associated with an abnormality of coenzyme Q(10) metabolism. Ataxia and epilepsy are common, and the phenotype overlaps with other mitochondrial encephalopathies, particularly POLG-related disease. CoQ(10) supplementation may be beneficial. We have noted a remarkable epileptiform pattern in ADCK3-related encephalopathy, and since EEG studies in this rare condition are […]
  Vibeke Arntsen
• In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration April 9, 2021
  We investigated the clinical, genetic, and pathological characteristics of a previously unknown severe juvenile brain disorder in several litters of Parson Russel Terriers. The disease started with epileptic seizures at 6-12 weeks of age and progressed rapidly to status epilepticus and death or euthanasia. Histopathological changes at autopsy were restricted to the brain. There was […]
  Marjo K Hytönen
• Safety and efficacy of rituximab as first- and second line treatment in multiple sclerosis - A cohort study April 2, 2021
  CONCLUSION: Rituximab was a safe and highly efficient disease modifying therapy in this cohort of MS-patients; however, infections and neutropenia need to be monitored.
  Hilde Marie Torgauten
• Cuprizone and EAE mouse frontal cortex proteomics revealed proteins altered in multiple sclerosis March 31, 2021
  Two pathophysiological different experimental models for multiple sclerosis were analyzed in parallel using quantitative proteomics in attempts to discover protein alterations applicable as diagnostic-, prognostic-, or treatment targets in human disease. The cuprizone model reflects de- and remyelination in multiple sclerosis, and the experimental autoimmune encephalomyelitis (EAE, MOG1-125) immune-mediated events. The frontal cortex, peripheral to […]
  Eystein Oveland
• Low vitamin D, but not tobacco use or high BMI, is associated with long-term disability progression in multiple sclerosis February 26, 2021
  CONCLUSION: Lower 25(OH)D levels, but apparently not tobacco use or higher BMI, were significantly associated with worse long-term disability progression in MS.
  Kristin Wesnes
• Brain atrophy and clinical characteristics predicting SDMT performance in multiple sclerosis: A 10-year follow-up study February 24, 2021
  CONCLUSION: This longitudinal study shows that baseline MRI-markers, demographic and clinical data can help predict worsening IPS. Identification of patients at risk of IPS decline is of importance as follow-up, treatment and rehabilitation can be optimized.
  Cecilie Jacobsen
• Cerebrospinal fluid proteome shows disrupted neuronal development in multiple sclerosis February 19, 2021
  Despite intensive research, the aetiology of multiple sclerosis (MS) remains unknown. Cerebrospinal fluid proteomics has the potential to reveal mechanisms of MS pathogenesis, but analyses must account for disease heterogeneity. We previously reported explorative multivariate analysis by hierarchical clustering of proteomics data of MS patients and controls, which resulted in two groups of individuals. Grouping […]
  Ellen F Mosleth