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426 results on '"Tzoulis Charalampos"'

4. The STRAT-PARK cohort: A personalized initiative to stratify Parkinson’s disease

Author

Stige, Kjersti Eline, Kverneng, Simon Ulvenes, Sharma, Soumya, Skeie, Geir-Olve, Sheard, Erika, Søgnen, Mona, Geijerstam, Solveig Af, Vetås, Therese, Wahlvåg, Anne Grete, Berven, Haakon, Buch, Sagar, Reese, David, Babiker, Dina, Mahdi, Yekta, Wade, Trevor, Miranda, Gala Prado, Ganguly, Jacky, Tamilselvam, Yokhesh Krishnasamy, Chai, Jia Ren, Bansal, Saurabh, Aur, Dorian, Soltani, Sima, Adams, Scott, Dölle, Christian, Dick, Fiona, Berntsen, Erik Magnus, Grüner, Renate, Brekke, Njål, Riemer, Frank, Goa, Pål Erik, Haugarvoll, Kristoffer, Haacke, E. Mark, Jog, Mandar, and Tzoulis, Charalampos

Published
2024
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5. MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

Author

Haugarvoll Kristoffer, Johansson Stefan, Tzoulis Charalampos, Haukanes Bjørn Ivar, Bredrup Cecilie, Neckelmann Gesche, Boman Helge, Knappskog Per Morten, and Bindoff Laurence A

Subjects
AMACR gene, Seizures, Next generation sequencing, Ataxia, Peroxisomal disorders, Metabolic disorders, Tremor, Peripheral neuropathy, Pigmentary retinopathy, Medicine
Abstract

Abstract Background Correct diagnosis is pivotal to understand and treat neurological disease. Herein, we report the diagnostic work-up utilizing exome sequencing and the characterization of clinical features and brain MRI in two siblings with a complex, adult-onset phenotype; including peripheral neuropathy, epilepsy, relapsing encephalopathy, bilateral thalamic lesions, type 2 diabetes mellitus, cataract, pigmentary retinopathy and tremor. Methods We applied clinical and genealogical investigations, homozygosity mapping and exome sequencing to establish the diagnosis and MRI to characterize the cerebral lesions. Results A recessive genetic defect was suspected in two siblings of healthy, but consanguineous parents. Homozygosity mapping revealed three shared homozygous regions and exome sequencing, revealed a novel homozygous c.367 G>A [p.Asp123Asn] mutation in the α-methylacyl-coA racemase (AMACR) gene in both patients. The genetic diagnosis of α-methylacyl-coA racemase deficiency was confirmed by demonstrating markedly increased pristanic acid levels in blood (169 μmol/L, normal Conclusions Metabolic diseases presenting late are diagnostically challenging. We show that appropriately applied, homozygosity mapping and exome sequencing can be decisive for establishing diagnoses such as late onset α-methylacyl-coA racemase deficiency, an autosomal recessive peroxisomal disorder with accumulation of pristanic acid. Our study also highlights radiological features that may assist in diagnosis. Early diagnosis is important as patients with this disorder may benefit from restricted dietary phytanic and pristanic acid intake.

Published
2013
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9. Two independent respiratory chains adapt OXPHOS performance to glycolytic switch

Author

Fernández-Vizarra, Erika, López-Calcerrada, Sandra, Sierra-Magro, Ana, Pérez-Pérez, Rafael, Formosa, Luke E., Hock, Daniella H., Illescas, María, Peñas, Ana, Brischigliaro, Michele, Ding, Shujing, Fearnley, Ian M., Tzoulis, Charalampos, Pitceathly, Robert D.S., Arenas, Joaquín, Martín, Miguel A., Stroud, David A., Zeviani, Massimo, Ryan, Michael T., and Ugalde, Cristina

Published
2022
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10. Cross-evaluation of wearable data for use in Parkinson's disease research: a free-living observational study on Empatica E4, Fitbit Sense, and Oura.

Author

Reithe, Haakon, Marty, Brice, Torrado, Juan C., Førsund, Elise, Husebo, Bettina S., Erdal, Ane, Kverneng, Simon U., Sheard, Erika, Tzoulis, Charalampos, and Patrascu, Monica

Subjects
PARKINSON'S disease, SLEEP, MONTREAL Cognitive Assessment, RAPID eye movement sleep, SOFTWARE reliability
Abstract

Background: Established assessment scales used for Parkinson's disease (PD) have several limitations in tracking symptom progression and fluctuation. Both research and commercial-grade wearables show potential in improving these assessments. However, it is not known whether pervasive and affordable devices can deliver reliable data, suitable for designing open-source unobtrusive around-the-clock assessments. Our aim is to investigate the usefulness of the research-grade wristband Empatica E4, commercial-grade smartwatch Fitbit Sense, and the Oura ring, for PD research. Method: The study included participants with PD (N = 15) and neurologically healthy controls (N = 16). Data were collected using established assessment scales (Movement Disorders Society Unified Parkinson's Disease Rating Scale, Montreal Cognitive Assessment, REM Sleep Behavior Disorder Screening Questionnaire, Hoehn and Yahr Stage), self-reported diary (activities, symptoms, sleep, medication times), and 2-week digital data from the three devices collected simultaneously. The analyses comprised three steps: preparation (device characteristics assessment, data extraction and preprocessing), processing (data structuring and visualization, cross-correlation analysis, diary comparison, uptime calculation), and evaluation (usability, availability, statistical analyses). Results: We found large variation in data characteristics and unsatisfactory cross-correlation. Due to output incongruences, only heart rate and movement could be assessed across devices. Empatica E4 and Fitbit Sense outperformed Oura in reflecting self-reported activities. Results show a weak output correlation and significant differences. The uptime was good, but Oura did not record heart rate and movement concomitantly. We also found variation in terms of access to raw data, sampling rate and level of device-native processing, ease of use, retrieval of data, and design. We graded the system usability of Fitbit Sense as good, Empatica E4 as poor, with Oura in the middle. Conclusions: In this study we identified a set of characteristics necessary for PD research: ease of handling, cleaning, data retrieval, access to raw data, score calculation transparency, long battery life, sufficient storage, higher sampling frequencies, software and hardware reliability, transparency. The three analyzed devices are not interchangeable and, based on data features, none were deemed optimal for PD research, but they all have the potential to provide suitable specifications in future iterations. [ABSTRACT FROM AUTHOR]

Published
2025
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17. The NAD+ Precursor Nicotinamide Riboside Rescues Mitochondrial Defects and Neuronal Loss in iPSC derived Cortical Organoid of Alpers' Disease

Author

Hong, Yu, primary, Zhang, Zhuoyuan, additional, Yangzom, Tsering, additional, Chen, Anbin, additional, Lundberg, Bjørn Christian, additional, Fang, Evandro Fei, additional, Siller, Richard, additional, Sullivan, Gareth John, additional, Zeman, Jiri, additional, Tzoulis, Charalampos, additional, Bindoff, Laurence A., additional, and Liang, Kristina Xiao, additional

Published
2024
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26. LIVE@Home.Path—innovating the clinical pathway for home-dwelling people with dementia and their caregivers: study protocol for a mixed-method, stepped-wedge, randomized controlled trial

Author

Husebo, Bettina Sandgathe, Allore, Heather, Achterberg, Wilco, Angeles, Renira Corinne, Ballard, Clive, Bruvik, Frøydis Kristine, Fæø, Stein Erik, Gedde, Marie Hidle, Hillestad, Eirin, Jacobsen, Frode Fadnes, Kirkevold, Øyvind, Kjerstad, Egil, Kjome, Reidun Lisbeth Skeide, Mannseth, Janne, Naik, Mala, Nouchi, Rui, Puaschitz, Nathalie, Samdal, Rune, Tranvåg, Oscar, Tzoulis, Charalampos, Vahia, Ipsit Vihang, Vislapuu, Maarja, and Berge, Line Iden

Published
2020
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30. Mitochondrial complex I deficiency stratifies idiopathic Parkinson’s disease

Author

Flønes, Irene H, primary, Toker, Lilah, additional, Sandnes, Dagny Ann, additional, Castelli, Martina, additional, Mostafavi, Sepideh, additional, Lura, Njål, additional, Shadad, Omnia, additional, Fernandez-Vizarra, Erika, additional, Painous, Cèlia, additional, Pérez-Soriano, Alexandra, additional, Compta, Yaroslau, additional, Molina-Porcel, Laura, additional, Alves, Guido, additional, Tysnes, Ole-Bjørn, additional, Dölle, Christian, additional, Nido, Gonzalo S, additional, and Tzoulis, Charalampos, additional

Published
2023
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33. The NAD+Precursor Nicotinamide Riboside Rescues Mitochondrial Defects and Neuronal Loss in iPSC derived Cortical Organoid of Alpers’ Disease

Author

Hong, Yu, primary, Zhang, Zhuoyuan, additional, Yangzom, Tsering, additional, Chen, Anbin, additional, Lundberg, Bjørn Christian, additional, Fang, Evandro Fei, additional, Sullivan, Gareth John, additional, Tzoulis, Charalampos, additional, Bindoff, Laurence A., additional, and Liang, Kristina Xiao, additional

Published
2023
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43. Localized Cerebral Energy Failure in DNA Polymerase Gamma-Associated Encephalopathy Syndromes

Author

Tzoulis, Charalampos, Neckelmann, Gesche, and Mork, Sverre J.

Abstract

Mutations in the catalytic subunit of the mitochondrial DNA-polymerase gamma cause a wide spectrum of clinical disease ranging from infantile hepato-encephalopathy to juvenile/adult-onset spinocerebellar ataxia and late onset progressive external ophthalmoplegia. Several of these syndromes are associated with an encephalopathy that characteristically shows episodes of rapid neurological deterioration and the development of acute cerebral lesions. The purpose of this study was to investigate the nature, distribution and natural evolution of central nervous system lesions in polymerase gamma associated encephalopathy focusing particularly on lesions identified by magnetic resonance imaging. We compared radiological, electrophysiological and pathological findings where available to study potential mechanisms underlying the episodes of exacerbation and acute cerebral lesions. We studied a total of 112 magnetic resonance tomographies and 11 computed tomographies in 32 patients with polymerase gamma-encephalopathy, including multiple serial examinations performed during both the chronic and acute phases of the disease and, in several cases, magnetic resonance spectroscopy and serial diffusion weighted studies. Data from imaging, electroencephalography and post-mortem examination were compared in order to study the underlying disease process. Our findings show that magnetic resonance imaging in polymerase gamma-related encephalopathies has high sensitivity and can identify patterns that are specific for individual syndromes. One form of chronic polymerase gamma-encephalopathy, that is associated with the "c.1399G greater than A" and "c.2243G greater than C" mutations, is characterized by progressive cerebral and cerebellar atrophy and focal lesions of the thalamus, deep cerebellar structures and medulla oblongata. Acute encephalopathies, both infantile and later onset, show similar pictures with cortical stroke-like lesions occurring during episodes of exacerbation. These lesions can occur both with and without electroencephalographic evidence of concurrent epileptic activity, and have diffusion, spectroscopic and histological profiles strongly suggestive of neuronal energy failure. We suggest therefore that both infantile and later onset polymerase gamma related encephalopathies are part of a continuum.

Published
2010
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47. Neuronal loss drives differentially expressed protein‐pathways in the PSP globus pallidus.

Author

Dick, Fiona, Johanson, Gard S., and Tzoulis, Charalampos

Subjects
GENE expression, GLOBUS pallidus, PROGRESSIVE supranuclear palsy
Abstract

Keywords: mitochondria; neurodegeneration; progressive supranuclear palsy; proteomics; ribosomes EN mitochondria neurodegeneration progressive supranuclear palsy proteomics ribosomes 1 4 4 07/31/23 20230701 NES 230701 COMMENTARY Jang et al. recently reported differentially expressed protein profiles in bulk-tissue samples from the globus pallidus (GP) of individuals with progressive supranuclear palsy (PSP). Mitochondria, neurodegeneration, progressive supranuclear palsy, proteomics, ribosomes Neuronal loss drives differentially expressed protein-pathways in the PSP globus pallidus. [Extracted from the article]

Published
2023
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