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  1. Article ; Online: Notes on establishing fear conditioning as causal in the postural orthostatic tachycardia syndrome.

    Lambrechts, Roald A / Jacobs, Bram

    Brain : a journal of neurology

    2022  Volume 145, Issue 11, Page(s) e107–e108

    MeSH term(s) Humans ; Postural Orthostatic Tachycardia Syndrome ; Causality ; Fear
    Language English
    Publishing date 2022-09-22
    Publishing country England
    Document type Editorial ; Comment
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/awac346
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    In stock of ZB MED Cologne/Königswinter

    Ui II Zs.26: Show issues Location:
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  2. Article ; Online: A vertebral artery halo sign indicates giant cell arteritis affecting the posterior circulation of the brain.

    Lambrechts, Roald A / Uyttenboogaart, Maarten / Drost, Gea

    Lancet (London, England)

    2021  Volume 397, Issue 10274, Page(s) e6

    MeSH term(s) Aged ; Brain Ischemia/diagnostic imaging ; Diffusion Magnetic Resonance Imaging ; Dysarthria/etiology ; Gait Disorders, Neurologic/etiology ; Giant Cell Arteritis/diagnosis ; Humans ; Magnetic Resonance Angiography ; Male ; Ultrasonography, Doppler, Duplex ; Unconsciousness/etiology ; Vertebral Artery/diagnostic imaging
    Language English
    Publishing date 2021-02-11
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 3306-6
    ISSN 1474-547X ; 0023-7507 ; 0140-6736
    ISSN (online) 1474-547X
    ISSN 0023-7507 ; 0140-6736
    DOI 10.1016/S0140-6736(21)00248-8
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  3. Article ; Online: Cortical pencil lining on SWI MRI in NBIA and healthy aging.

    van der Weijden, Marlous C M / van Laar, Peter Jan / Lambrechts, Roald A / Verbeek, Dineke S / Tijssen, Marina A J

    BMC neurology

    2019  Volume 19, Issue 1, Page(s) 233

    Abstract: Background: Neurodegeneration with brain iron accumulation (NBIA) is characterized by pathological iron accumulation in the subcortical nuclei and the cortex. As age-related iron accumulation studies in these structures are lacking in healthy aging, we ... ...

    Abstract Background: Neurodegeneration with brain iron accumulation (NBIA) is characterized by pathological iron accumulation in the subcortical nuclei and the cortex. As age-related iron accumulation studies in these structures are lacking in healthy aging, we aimed to characterize the dynamics of age-dependent iron accumulation in subcortical nuclei in healthy aging and selected NBIA cases. This is fundamental to understand the natural age-related iron deposition in the healthy brain prior to using this marker as a potential prognostic or diagnostic tool in neurodegenerative disorders.
    Methods: Susceptibility-weighted imaging (SWI) scans from 81 healthy volunteers (0-79 years) and four genetically confirmed patients suffering from NBIA (2-14 years) were obtained. We scored the presence or absence of pencil lining of the motor cortex and putamen and analyzed the normalized SWI signal intensity ratio (NSIR) in five subcortical nuclei.
    Results: In healthy subjects, an age-dependent increase of pencil lining occurred starting from the second decade of life and was present in all cases at the age of 50. In their first decade, NBIA patients showed no cortical pencil lining, but we did observe putaminal pencil lining at this stage. In healthy subjects, age and NSIR of all nuclei correlated positively and was particularly dynamic in early childhood until young adulthood in the globus pallidus, dentate nucleus and red nucleus, but not in the caudate nucleus and putamen. NBIA patients showed an increased NSIR in the globus pallidus only and not in the other subcortical nuclei compared to age-matched healthy subjects.
    Conclusions: Cortical pencil lining is part of healthy aging. This should be considered when assessing this as a potential marker in NBIA diagnosis and prognosis. Putaminal pencil lining has the potential to become a specific marker for some subtypes of NBIA in the first decade of life, as it was only observed in NBIA and not in age-matched healthy subjects. NSIR in the subcortical nuclei during healthy aging was shown to be dynamic, accentuating the importance of having an age-dependent baseline.
    MeSH term(s) Adult ; Aged ; Brain/diagnostic imaging ; Brain/pathology ; Child ; Female ; Healthy Aging/pathology ; Humans ; Iron/analysis ; Magnetic Resonance Imaging/methods ; Male ; Middle Aged ; Neurodegenerative Diseases/diagnostic imaging ; Neurodegenerative Diseases/pathology ; Young Adult
    Chemical Substances Iron (E1UOL152H7)
    Language English
    Publishing date 2019-10-14
    Publishing country England
    Document type Journal Article
    ISSN 1471-2377
    ISSN (online) 1471-2377
    DOI 10.1186/s12883-019-1471-7
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  4. Article ; Online: CoA-dependent activation of mitochondrial acyl carrier protein links four neurodegenerative diseases.

    Lambrechts, Roald A / Schepers, Hein / Yu, Yi / van der Zwaag, Marianne / Autio, Kaija J / Vieira-Lara, Marcel A / Bakker, Barbara M / Tijssen, Marina A / Hayflick, Susan J / Grzeschik, Nicola A / Sibon, Ody Cm

    EMBO molecular medicine

    2019  Volume 11, Issue 12, Page(s) e10488

    Abstract: PKAN, CoPAN, MePAN, and PDH-E2 deficiency share key phenotypic features but harbor defects in distinct metabolic processes. Selective damage to the globus pallidus occurs in these genetic neurodegenerative diseases, which arise from defects in CoA ... ...

    Abstract PKAN, CoPAN, MePAN, and PDH-E2 deficiency share key phenotypic features but harbor defects in distinct metabolic processes. Selective damage to the globus pallidus occurs in these genetic neurodegenerative diseases, which arise from defects in CoA biosynthesis (PKAN, CoPAN), protein lipoylation (MePAN), and pyruvate dehydrogenase activity (PDH-E2 deficiency). Overlap of their clinical features suggests a common molecular etiology, the identification of which is required to understand their pathophysiology and design treatment strategies. We provide evidence that CoA-dependent activation of mitochondrial acyl carrier protein (mtACP) is a possible process linking these diseases through its effect on PDH activity. CoA is the source for the 4'-phosphopantetheine moiety required for the posttranslational 4'-phosphopantetheinylation needed to activate specific proteins. We show that impaired CoA homeostasis leads to decreased 4'-phosphopantetheinylation of mtACP. This results in a decrease of the active form of mtACP, and in turn a decrease in lipoylation with reduced activity of lipoylated proteins, including PDH. Defects in the steps of a linked CoA-mtACP-PDH pathway cause similar phenotypic abnormalities. By chemically and genetically re-activating PDH, these phenotypes can be rescued, suggesting possible treatment strategies for these diseases.
    MeSH term(s) Acyl Carrier Protein/genetics ; Acyl Carrier Protein/metabolism ; Animals ; Blotting, Western ; Cell Line ; Coenzyme A/metabolism ; Drosophila ; Female ; Flow Cytometry ; HEK293 Cells ; Humans ; Male ; Neurodegenerative Diseases/genetics ; Neurodegenerative Diseases/metabolism ; Phosphotransferases (Alcohol Group Acceptor)/genetics ; Phosphotransferases (Alcohol Group Acceptor)/metabolism
    Chemical Substances Acyl Carrier Protein ; Phosphotransferases (Alcohol Group Acceptor) (EC 2.7.1.-) ; Coenzyme A (SAA04E81UX)
    Language English
    Publishing date 2019-11-07
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2467145-9
    ISSN 1757-4684 ; 1757-4676
    ISSN (online) 1757-4684
    ISSN 1757-4676
    DOI 10.15252/emmm.201910488
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 6784: Show issues Location:
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  5. Article ; Online: North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia.

    Lambrechts, Roald A / Polet, Sjoukje S / Hernandez-Pichardo, Alejandra / van Ninhuys, Lisa / Gorter, Jenke A / Grzeschik, Nicola A / de Koning-Tijssen, Marina A J / de Koning, Tom J / Sibon, Ody C M

    Neuroscience

    2019  Volume 423, Page(s) 1–11

    Abstract: Progressive myoclonic epilepsies (PMEs) comprise a group of rare disorders of different genetic aetiologies, leading to childhood-onset myoclonus, myoclonic seizures and subsequent neurological decline. One of the genetic causes for PME, a mutation in ... ...

    Abstract Progressive myoclonic epilepsies (PMEs) comprise a group of rare disorders of different genetic aetiologies, leading to childhood-onset myoclonus, myoclonic seizures and subsequent neurological decline. One of the genetic causes for PME, a mutation in the gene coding for Golgi SNAP receptor 2 (GOSR2), gives rise to a PME-subtype prevalent in Northern Europe and hence referred to as North Sea Progressive Myoclonic Epilepsy (NS-PME). Treatment for NS-PME, as for all PME subtypes, is symptomatic; the pathophysiology of NS-PME is currently unknown, precluding targeted therapy. Here, we investigated the pathophysiology of NS-PME. By means of chart review in combination with interviews with patients (n = 14), we found heat to be an exacerbating factor for a majority of NS-PME patients (86%). To substantiate these findings, we designed a NS-PME Drosophila melanogaster model. Downregulation of the Drosophila GOSR2-orthologue Membrin leads to heat-induced seizure-like behaviour. Specific downregulation of GOSR2/Membrin in glia but not in neuronal cells resulted in a similar phenotype, which was progressive as the flies aged and was partially responsive to treatment with sodium barbital. Our data suggest a role for GOSR2 in glia in the pathophysiology of NS-PME.
    MeSH term(s) Adolescent ; Adult ; Animals ; Child ; Child, Preschool ; Drosophila ; Europe ; Female ; Hot Temperature ; Humans ; Interviews as Topic ; Male ; Models, Animal ; Mutation ; Myoclonic Epilepsies, Progressive/chemically induced ; Myoclonic Epilepsies, Progressive/genetics ; Myoclonic Epilepsies, Progressive/physiopathology ; Neuroglia ; Qb-SNARE Proteins/genetics ; Qb-SNARE Proteins/metabolism ; Retrospective Studies
    Chemical Substances GOSR2 protein, human ; Qb-SNARE Proteins
    Language English
    Publishing date 2019-11-01
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 196739-3
    ISSN 1873-7544 ; 0306-4522
    ISSN (online) 1873-7544
    ISSN 0306-4522
    DOI 10.1016/j.neuroscience.2019.10.035
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    Zs.A 1215: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (1.OG)
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  6. Article ; Online: The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study.

    van Egmond, Martje E / Weijenberg, Amerins / van Rijn, Margreet E / Elting, Jan Willem J / Gelauff, Jeannette M / Zutt, Rodi / Sival, Deborah A / Lambrechts, Roald A / Tijssen, Marina A J / Brouwer, Oebele F / de Koning, Tom J

    Orphanet journal of rare diseases

    2017  Volume 12, Issue 1, Page(s) 45

    Abstract: Background: North Sea Progressive Myoclonus Epilepsy is a rare and severe disorder caused by mutations in the GOSR2 gene. It is clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia. As in other progressive ... ...

    Abstract Background: North Sea Progressive Myoclonus Epilepsy is a rare and severe disorder caused by mutations in the GOSR2 gene. It is clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia. As in other progressive myoclonus epilepsies, the efficacy of antiepileptic drugs is disappointingly limited in North Sea Progressive Myoclonus Epilepsy. The ketogenic diet and the less restrictive modified Atkins diet have been proven to be effective in other drug-resistant epilepsy syndromes, including those with myoclonic seizures. Our aim was to evaluate the efficacy of the modified Atkins diet in patients with North Sea Progressive Myoclonus Epilepsy.
    Results: Four North Sea Progressive Myoclonus Epilepsy patients (aged 7-20 years) participated in an observational, prospective, open-label study on the efficacy of the modified Atkins diet. Several clinical parameters were assessed at baseline and again after participants had been on the diet for 3 months. The primary outcome measure was health-related quality of life, with seizure frequency and blinded rated myoclonus severity as secondary outcome measures. Ketosis was achieved within 2 weeks and all patients completed the 3 months on the modified Atkins diet. The diet was well tolerated by all four patients. Health-related quality of life improved considerably in one patient and showed sustained improvement during long-term follow-up, despite the progressive nature of the disorder. Health-related quality of life remained broadly unchanged in the other three patients and they did not continue the diet. Seizure frequency remained stable and blinded rating of their myoclonus showed improvement, albeit modest, in all patients.
    Conclusions: This observational, prospective study shows that some North Sea Progressive Myoclonus Epilepsy patients may benefit from the modified Atkins diet with sustained health-related quality of life improvement. Not all our patients continued on the diet, but nonetheless we show that the modified Atkins diet might be considered as a possible treatment in this devastating disorder.
    Language English
    Publishing date 2017-03-07
    Publishing country England
    Document type Journal Article
    ISSN 1750-1172
    ISSN (online) 1750-1172
    DOI 10.1186/s13023-017-0595-3
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  7. Article ; Online: Extracellular 4'-phosphopantetheine is a source for intracellular coenzyme A synthesis.

    Srinivasan, Balaji / Baratashvili, Madina / van der Zwaag, Marianne / Kanon, Bart / Colombelli, Cristina / Lambrechts, Roald A / Schaap, Onno / Nollen, Ellen A / Podgoršek, Ajda / Kosec, Gregor / Petković, Hrvoje / Hayflick, Susan / Tiranti, Valeria / Reijngoud, Dirk-Jan / Grzeschik, Nicola A / Sibon, Ody C M

    Nature chemical biology

    2015  Volume 11, Issue 10, Page(s) 784–792

    Abstract: The metabolic cofactor coenzyme A (CoA) gained renewed attention because of its roles in neurodegeneration, protein acetylation, autophagy and signal transduction. The long-standing dogma is that eukaryotic cells obtain CoA exclusively via the uptake of ... ...

    Abstract The metabolic cofactor coenzyme A (CoA) gained renewed attention because of its roles in neurodegeneration, protein acetylation, autophagy and signal transduction. The long-standing dogma is that eukaryotic cells obtain CoA exclusively via the uptake of extracellular precursors, especially vitamin B5, which is intracellularly converted through five conserved enzymatic reactions into CoA. This study demonstrates an alternative mechanism that allows cells and organisms to adjust intracellular CoA levels by using exogenous CoA. Here CoA was hydrolyzed extracellularly by ectonucleotide pyrophosphatases to 4'-phosphopantetheine, a biologically stable molecule able to translocate through membranes via passive diffusion. Inside the cell, 4'-phosphopantetheine was enzymatically converted back to CoA by the bifunctional enzyme CoA synthase. Phenotypes induced by intracellular CoA deprivation were reversed when exogenous CoA was provided. Our findings answer long-standing questions in fundamental cell biology and have major implications for the understanding of CoA-related diseases and therapies.
    MeSH term(s) Animals ; Caenorhabditis elegans/growth & development ; Caenorhabditis elegans/metabolism ; Cell Line ; Coenzyme A/biosynthesis ; Coenzyme A/blood ; Coenzyme A/pharmacology ; Coenzyme A Ligases/metabolism ; Drosophila/cytology ; Drosophila/growth & development ; Drosophila/metabolism ; Female ; HEK293 Cells ; Humans ; Longevity/physiology ; Male ; Mice, Inbred C57BL ; Pantetheine/analogs & derivatives ; Pantetheine/blood ; Pantetheine/metabolism ; Pantetheine/pharmacology ; Phosphotransferases (Alcohol Group Acceptor)/genetics ; Phosphotransferases (Alcohol Group Acceptor)/metabolism
    Chemical Substances Pantetheine (496-65-1) ; Phosphotransferases (Alcohol Group Acceptor) (EC 2.7.1.-) ; pantothenate kinase (EC 2.7.1.33) ; Coenzyme A Ligases (EC 6.2.1.-) ; 4'-phosphopantetheine (NM39WU8OFM) ; Coenzyme A (SAA04E81UX)
    Language English
    Publishing date 2015-08-31
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2202962-X
    ISSN 1552-4469 ; 1552-4450
    ISSN (online) 1552-4469
    ISSN 1552-4450
    DOI 10.1038/nchembio.1906
    Database MEDical Literature Analysis and Retrieval System OnLINE

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