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1. Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage

Author

Rutten, Julie W., Cerfontaine, Minne N., Dijkstra, Kyra L., Mulder, Aat A., Vreijling, Jeroen, Kruit, Mark, Koning, Roman I., de Bot, Susanne T., van Nieuwenhuizen, Koen M., Baelde, Hans J., Berendse, Henk W., Mei, Leon H., Ruijter, George J.G., Baas, Frank, Jost, Carolina R., van Duinen, Sjoerd G., Nibbeling, Esther A.R., Gravesteijn, Gido, and Lesnik Oberstein, Saskia A.J.

Published
2024
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4. 18F‐fluoro‐ethyl‐tyrosine PET co‐registered with MRI in patients with persisting acromegaly.

Author

Bakker, Leontine E. H., Verstegen, Marco J. T., Manole, Diandra C., Lu, Huangling, Decramer, Thomas J. M., Pelsma, Iris C. M., Kruit, Mark C., Verbist, Berit M., van de Ven, Annenienke, Gurnell, Mark, Ghariq, Idris, van Furth, Wouter R., Biermasz, Nienke R., and Pereira Arias‐Bouda, Lenka M.

Subjects
POSITRON emission tomography computed tomography, ACROMEGALY, MAGNETIC resonance imaging, REOPERATION
Abstract

Objective: To report our experience with 18F‐fluoro‐ethyl‐tyrosine (FET) positron emission tomography‐computed tomography (PET‐CT) co‐registered with magnetic resonance imaging (MRI) (FET‐PET/MRICR) in the care trajectory for persistent acromegaly. Design: Prospective case series. Patients: Ten patients with insufficiently controlled acromegaly referred to our team to evaluate surgical options. Measurements: FET‐PET/MRICR was used to support decision‐making if MRI alone and multidisciplinary team evaluation did not provide sufficient clarity to proceed to surgery. Results: FET‐PET/MRICR showed suspicious (para)sellar tracer uptake in all patients. In five patients FET‐PET/MRICR was fully concordant with conventional MRI, and in one patient partially concordant. FET‐PET/MRICR identified suggestive new foci in four other patients. Surgical re‐exploration was performed in nine patients (aimed at total resection (6), debulking (2), diagnosis (1)), and one patient underwent radiation therapy. In 7 of 9 (78%) operated patients FET‐PET/MRICR findings were confirmed intraoperatively, and in six (67%) also histologically. IGF‐1 decreased significantly in eight patients (89%). All patients showed clinical improvement. Complete biochemical remission was achieved in three patients (50% of procedures in which total resection was anticipated feasible). Biochemistry improved in five and was unchanged in one patient. No permanent complications occurred. At six months, optimal outcome (preoperative intended goal achieved without permanent complications) was achieved in six (67%) patients and an intermediate outcome (goal not achieved, but no complications) in the other three patients. Conclusions: In patients with persisting acromegaly without a clear surgical target on MRI, FET‐PET/MRICR is a new tracer to provide additional information to aid decision‐making by the multidisciplinary pituitary team. [ABSTRACT FROM AUTHOR]

Published
2024
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5. 18F-fluoro-ethyl-tyrosine PET co-registered with MRI in patients with persisting acromegaly

Author

Bakker, Leontine E.H., primary, Verstegen, Marco J.T., additional, Manole, Diandra C., additional, Lu, Huangling, additional, Decramer, Thomas J.M., additional, Pelsma, Iris C.M., additional, Kruit, Mark C., additional, Verbist, Berit M., additional, de Ven, Annenienke van, additional, Gurnell, Mark, additional, Ghariq, Idris, additional, Furth, Wouter R. van, additional, Biermasz, Nienke R., additional, and Arias-Bouda, Lenka M. Pereira, additional

Published
2024
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11. Bi-allelic NIT1 variants cause small vessel disease with movement disorders and massive non-lobar intracerebral haemorrhage

Author

Rutten, Julie W, primary, Cerfontaine, Minne N, additional, Dijkstra, Kyra L, additional, Mulder, Aat A, additional, Kruit, Mark C, additional, Koning, Roman I, additional, de Bot, Susanne T, additional, van Nieuwenhuizen, Koen M, additional, Baelde, Hans J, additional, Berendse, Henk W, additional, Ruijter, George JG, additional, Baas, Frank, additional, Jost, Carolina R, additional, van Duinen, Sjoerd G, additional, Nibbeling, Esther AR, additional, Gravesteijn, Gido, additional, and Lesnik Oberstein, Saskia AJ, additional

Published
2023
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13. Prevalence of Subclinical Coronary Artery Disease Assessed by Coronary Computed Tomography Angiography in 45- to 55-Year-Old Women With a History of Preeclampsia

Author

Zoet, Gerbrand A., Benschop, Laura, Boersma, Eric, Budde, Ricardo P.J., Fauser, Bart C.J.M., van der Graaf, Yolanda, de Groot, Christianne J.M., Maas, Angela H.E.M., Roeters van Lennep, Jeanine E., Steegers, Eric A.P., Visseren, Frank L., van Rijn, Bas B., Velthuis, Birgitta K., Franx, Arie, Appelman, Yolande E., Baart, Sara J., Brouwers, Laura, Cannegieter, Suzanne C., Dam, Veerle, Eijkemans, M.C.J., Ferrari, Michel D., Gunning, Marlise N., Hoek, Annemieke, Koffijberg, Erik, Koster, M.P.H., Kruit, Mark, Lagerwij, Giske R., Lambalk, C.B., Laven, Joop S., Linstra, Katie, van der Lugt, Aad, Maassen van den Brink, Antoinette, Meun, Cindy, Middeldorp, Saskia, Moons, Karel G.M., Roos-Hesselink, Jolien W., Scheres, Luuk J.J., Steegers-Theunissen, Regine P.M., Terwindt, Gisela M., and Wermer, Marieke J.H.

Published
2018
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14. Fully Automated 3D Vestibular Schwannoma Segmentation with and without Gadolinium-based Contrast Material: A Multicenter, Multivendor Study

Author

Neve, Olaf M., primary, Chen, Yunjie, additional, Tao, Qian, additional, Romeijn, Stephan R., additional, de Boer, Nick P., additional, Grootjans, Willem, additional, Kruit, Mark C., additional, Lelieveldt, Boudewijn P. F., additional, Jansen, Jeroen C., additional, Hensen, Erik F., additional, Verbist, Berit M., additional, and Staring, Marius, additional

Published
2022
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20. Cortical glutamate and gamma-aminobutyric acid over the course of a provoked migraine attack, a 7 Tesla magnetic resonance spectroscopy study

Author

Highfield Research Group, Infection & Immunity, Cancer, Onderwater, Gerrit L.J., Wijnen, Jannie P., Najac, Chloé, van Dongen, Robin M., Ronen, Itamar, Webb, Andrew, Zielman, Ronald, van Zwet, Erik W., Ferrari, Michel D., Kan, Hermien E., Kruit, Mark C., Terwindt, Gisela M., Highfield Research Group, Infection & Immunity, Cancer, Onderwater, Gerrit L.J., Wijnen, Jannie P., Najac, Chloé, van Dongen, Robin M., Ronen, Itamar, Webb, Andrew, Zielman, Ronald, van Zwet, Erik W., Ferrari, Michel D., Kan, Hermien E., Kruit, Mark C., and Terwindt, Gisela M.

Published
2021

21. Implementation of functional imaging using 11C-methionine PET-CT co-registered with MRI for advanced surgical planning and decision making in prolactinoma surgery.

Author

Bakker, Leontine E. H., Verstegen, Marco J. T., Ghariq, Eidrees, Verbist, Berit M., Schutte, Pieter J., Bashari, Waiel A., Kruit, Mark C., Pereira, Alberto M., Gurnell, Mark, Biermasz, Nienke R., van Furth, Wouter R., and Bouda, Lenka M. Pereira Arias

Abstract

Purpose: To report the first experience of our multidisciplinary team with functional imaging using 11C-methionine positron emission tomography-computed tomography (11C-methionine PET-CT) co-registered with MRI (Met-PET/MRICR) in clinical decision making and surgical planning of patients with difficult to treat prolactinoma. Methods: In eighteen patients with prolactinoma, referred to our tertiary referral centre because of intolerance or resistance for dopamine agonists (DA), Met-PET/MRICR was used to aid decision-making regarding therapy. Results: Met-PET/MRICR was positive in 94% of the patients. MRI and Met-PET/MRICR findings were completely concordant in five patients, partially concordant in nine patients, and non-concordant in four patients. In five patients Met-PET/MRICR identified lesion(s) that were retrospectively also visible on MRI. Met-PET/MRICR was false negative in one patient, with a cystic adenoma on conventional MRI. Thirteen patients underwent transsphenoidal surgery, with nine achieving full biochemical remission, two clinical improvement and near normalized prolactin levels, and one patient clinical improvement with significant tumour reduction. Hence, nearly all patients (94%) were considered to have a positive outcome. Permanent complication rate was low. Three patients continued DA, two patients have a wait and scan policy. Conclusion: Met-PET/MRICR can provide additional information to guide multidisciplinary preoperative and intraoperative decision making in selected cases of prolactinoma. This approach resulted in a high remission rate with a low rate of complications in our expert centre. [ABSTRACT FROM AUTHOR]

Published
2022
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23. The cardiovascular risk profile of middle-aged women with polycystic ovary syndrome

Author

Meun, Cindy, Gunning, Marlise N., Louwers, Yvonne, V, Peters, Henrike, Roos-Hesselink, Jolien, van Lennep, Jeanine Roeters, Rueda Ochoa, Oscar-Leonel, Appelman, Yolande, Lambalk, Nils, Boersma, Eric, Kavousi, Maryam, Fauser, Bart C. J. M., Laven, Joop S. E., Baart, Sara, Benschop, Laura, Brouwers, Laura, Budde, Ricardo, Cannegieter, Suzanne, Dam, Veerle, Eijkemans, Rene, Ferrari, Michel, Franx, Arie, de Groot, Christianne, Hoek, Annemieke, Koffijberg, Erik, Koster, Wendy, Kruit, Mark, Lagerweij, Giske, Laven, Joop, Linstra, Katie, van der Lugt, Aad, Maas, Angela, van den Brink, Antoinette Maassen, Middeldorp, Saskia, Moons, Karel G. M., van Rijn, Bas, Scheres, Luuk, van der Schouw, Yvonne T., Steegers, Eric, Steegers, Regine, Terwindt, Gisela, Velthuis, Birgitta, Wermer, Marieke, Zick, Bart, Zoet, Gerbrand, Meun, Cindy, Gunning, Marlise N., Louwers, Yvonne, V, Peters, Henrike, Roos-Hesselink, Jolien, van Lennep, Jeanine Roeters, Rueda Ochoa, Oscar-Leonel, Appelman, Yolande, Lambalk, Nils, Boersma, Eric, Kavousi, Maryam, Fauser, Bart C. J. M., Laven, Joop S. E., Baart, Sara, Benschop, Laura, Brouwers, Laura, Budde, Ricardo, Cannegieter, Suzanne, Dam, Veerle, Eijkemans, Rene, Ferrari, Michel, Franx, Arie, de Groot, Christianne, Hoek, Annemieke, Koffijberg, Erik, Koster, Wendy, Kruit, Mark, Lagerweij, Giske, Laven, Joop, Linstra, Katie, van der Lugt, Aad, Maas, Angela, van den Brink, Antoinette Maassen, Middeldorp, Saskia, Moons, Karel G. M., van Rijn, Bas, Scheres, Luuk, van der Schouw, Yvonne T., Steegers, Eric, Steegers, Regine, Terwindt, Gisela, Velthuis, Birgitta, Wermer, Marieke, Zick, Bart, and Zoet, Gerbrand

Published
2020

24. The cardiovascular risk profile of middle-aged women with polycystic ovary syndrome

Author

MS VPG/Gynaecologie, Child Health, Arts-assistenten DV&B, MS Radiologie, Cardiovasculaire Epi Team 1, Circulatory Health, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Biostatistiek Onderzoek, Infection & Immunity, JC onderzoeksprogramma Infectieziekten, JC onderzoeksprogramma Methodologie, MS Verloskunde, Brain, HEE Team 1, HEE, ZL Cerebrovasculaire Ziekten Medisch, Epi Methoden, Cancer, Cardiovasculaire Epidemiologie, Researchgr. Hart-brein as., Meun, Cindy, Gunning, Marlise N., Louwers, Yvonne, V, Peters, Henrike, Roos-Hesselink, Jolien, van Lennep, Jeanine Roeters, Rueda Ochoa, Oscar-Leonel, Appelman, Yolande, Lambalk, Nils, Boersma, Eric, Kavousi, Maryam, Fauser, Bart C. J. M., Laven, Joop S. E., Baart, Sara, Benschop, Laura, Brouwers, Laura, Budde, Ricardo, Cannegieter, Suzanne, Dam, Veerle, Eijkemans, Rene, Ferrari, Michel, Franx, Arie, de Groot, Christianne, Hoek, Annemieke, Koffijberg, Erik, Koster, Wendy, Kruit, Mark, Lagerweij, Giske, Laven, Joop, Linstra, Katie, van der Lugt, Aad, Maas, Angela, van den Brink, Antoinette Maassen, Middeldorp, Saskia, Moons, Karel G. M., van Rijn, Bas, Scheres, Luuk, van der Schouw, Yvonne T., Steegers, Eric, Steegers, Regine, Terwindt, Gisela, Velthuis, Birgitta, Wermer, Marieke, Zick, Bart, Zoet, Gerbrand, MS VPG/Gynaecologie, Child Health, Arts-assistenten DV&B, MS Radiologie, Cardiovasculaire Epi Team 1, Circulatory Health, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Biostatistiek Onderzoek, Infection & Immunity, JC onderzoeksprogramma Infectieziekten, JC onderzoeksprogramma Methodologie, MS Verloskunde, Brain, HEE Team 1, HEE, ZL Cerebrovasculaire Ziekten Medisch, Epi Methoden, Cancer, Cardiovasculaire Epidemiologie, Researchgr. Hart-brein as., Meun, Cindy, Gunning, Marlise N., Louwers, Yvonne, V, Peters, Henrike, Roos-Hesselink, Jolien, van Lennep, Jeanine Roeters, Rueda Ochoa, Oscar-Leonel, Appelman, Yolande, Lambalk, Nils, Boersma, Eric, Kavousi, Maryam, Fauser, Bart C. J. M., Laven, Joop S. E., Baart, Sara, Benschop, Laura, Brouwers, Laura, Budde, Ricardo, Cannegieter, Suzanne, Dam, Veerle, Eijkemans, Rene, Ferrari, Michel, Franx, Arie, de Groot, Christianne, Hoek, Annemieke, Koffijberg, Erik, Koster, Wendy, Kruit, Mark, Lagerweij, Giske, Laven, Joop, Linstra, Katie, van der Lugt, Aad, Maas, Angela, van den Brink, Antoinette Maassen, Middeldorp, Saskia, Moons, Karel G. M., van Rijn, Bas, Scheres, Luuk, van der Schouw, Yvonne T., Steegers, Eric, Steegers, Regine, Terwindt, Gisela, Velthuis, Birgitta, Wermer, Marieke, Zick, Bart, and Zoet, Gerbrand

Published
2020

25. Cortical glutamate and gamma-aminobutyric acid over the course of a provoked migraine attack, a 7 Tesla magnetic resonance spectroscopy study

Author

Onderwater, Gerrit L.J., primary, Wijnen, Jannie P., additional, Najac, Chloé, additional, van Dongen, Robin M., additional, Ronen, Itamar, additional, Webb, Andrew, additional, Zielman, Ronald, additional, van Zwet, Erik W., additional, Ferrari, Michel D., additional, Kan, Hermien E., additional, Kruit, Mark C., additional, and Terwindt, Gisela M., additional

Published
2021
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28. Migraine as a risk factor for subclinical brain lesions

Author

Kruit, Mark C., Buchem, Mark A. van, Hofman, Paul A.M., Bakkers, Jacobus T.N., Terwindt, Gisela M., Ferrari, Michel D., and Launer, Lenore J.

Subjects
Stroke (Disease), Migraine
Abstract

People with migraine headaches may also have small strokes in their brain, according to a study of 435 people. People who had migraine with aura more than once a month had the highest risk of stroke. These small strokes occurred most often in the part of the brain called the cerebellum. The strokes are so small they do not cause symptoms and can only be found by brain scans.

Published
2004

30. Structural Brain Changes in Migraine

Author

Palm-Meinders, Inge H., Koppen, Hille, Terwindt, Gisela M., Launer, Lenore J., Konishi, Junya, Moonen, Juliette M., Bakkers, Jacobus T., Hofman, Paul A., van Lew, Baldur, Middelkoop, Huub A., van Buchem, Mark A., Ferrari, Michel D., and Kruit, Mark C.

Published
2012
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36. Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients

Author

Gravesteijn, Gido, primary, Dauwerse, Johannes G, additional, Overzier, Maurice, additional, Brouwer, Gwendolyn, additional, Hegeman, Ingrid, additional, Mulder, Aat A, additional, Baas, Frank, additional, Kruit, Mark C, additional, Terwindt, Gisela M, additional, van Duinen, Sjoerd G, additional, Jost, Carolina R, additional, Aartsma-Rus, Annemieke, additional, Lesnik Oberstein, Saskia A J, additional, and Rutten, Julie W, additional

Published
2020
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40. Coronary artery calcification in middle-aged women with premature ovarian insufficiency

Author

UMC Utrecht, MS VPG/Gynaecologie, Child Health, MS Verloskunde, Circulatory Health, Brain, MS Radiologie, Biostatistiek Onderzoek, Infection & Immunity, JC onderzoeksprogramma Infectieziekten, JC onderzoeksprogramma Methodologie, Researchgr. Hart-brein as., Arts-assistenten DV&B, Cardiovasculaire Epi Team 1, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, HEE Team 1, HEE, ZL Cerebrovasculaire Ziekten Medisch, Epi Methoden, Cancer, Julius Centrum, Cardiovasculaire Epidemiologie, Gunning, Marlise N., Meun, Cindy, van Rijn, Bas B., Maas, Angela H.E.M., Benschop, Laura, Franx, Arie, Boersma, Eric, Budde, Ricardo P.J., Appelman, Yolande, Lambalk, Cornelis B., Eijkemans, Rene, Velthuis, Birgitta K., Laven, Joop S.E., Fauser, Bart C.J.M., Baart, Sara, Brouwers, Laura, Cannegieter, Suzanne, Dam, Veerle, Daan, Nadine, Ferrari, Michel, de Groot, Christianne, Hoek, Annemieke, Koffijberg, Erik, Koster, Wendy, Kruit, Mark, Lagerweij, Giske, Lambalk, Nils, Linstra, Katie, van der Lugt, Aad, van den Brink, Antoinette Maassen, Middeldorp, Saskia, Moons, Karel, van Lennep, Jeanine Roeters, Roos-Hesselink, Jolien, Scheres, Luuk, van der Schouw, Yvonne, Steegers, Eric, Steegers, Regine, Terwindt, Gisela, Wermer, Marieke, Zick, Bart, Zoet, Gerbrand, On behalf of the CREW-consortium, UMC Utrecht, MS VPG/Gynaecologie, Child Health, MS Verloskunde, Circulatory Health, Brain, MS Radiologie, Biostatistiek Onderzoek, Infection & Immunity, JC onderzoeksprogramma Infectieziekten, JC onderzoeksprogramma Methodologie, Researchgr. Hart-brein as., Arts-assistenten DV&B, Cardiovasculaire Epi Team 1, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, HEE Team 1, HEE, ZL Cerebrovasculaire Ziekten Medisch, Epi Methoden, Cancer, Julius Centrum, Cardiovasculaire Epidemiologie, Gunning, Marlise N., Meun, Cindy, van Rijn, Bas B., Maas, Angela H.E.M., Benschop, Laura, Franx, Arie, Boersma, Eric, Budde, Ricardo P.J., Appelman, Yolande, Lambalk, Cornelis B., Eijkemans, Rene, Velthuis, Birgitta K., Laven, Joop S.E., Fauser, Bart C.J.M., Baart, Sara, Brouwers, Laura, Cannegieter, Suzanne, Dam, Veerle, Daan, Nadine, Ferrari, Michel, de Groot, Christianne, Hoek, Annemieke, Koffijberg, Erik, Koster, Wendy, Kruit, Mark, Lagerweij, Giske, Lambalk, Nils, Linstra, Katie, van der Lugt, Aad, van den Brink, Antoinette Maassen, Middeldorp, Saskia, Moons, Karel, van Lennep, Jeanine Roeters, Roos-Hesselink, Jolien, Scheres, Luuk, van der Schouw, Yvonne, Steegers, Eric, Steegers, Regine, Terwindt, Gisela, Wermer, Marieke, Zick, Bart, Zoet, Gerbrand, and On behalf of the CREW-consortium

Published
2019

42. Hypothalamic functional MRI activity in the initiation phase of spontaneous and glyceryl trinitrate‐induced migraine attacks.

Author

van Oosterhout, Willebrordus P. J., van Opstal, Anne M., Schoonman, Guus G., van der Grond, Jeroen, Terwindt, Gisela M., Ferrari, Michel D., and Kruit, Mark C.

Subjects
MAGNETIC resonance imaging, FUNCTIONAL magnetic resonance imaging, MIGRAINE, MIGRAINE aura, OXYGEN in the blood
Abstract

The hypothalamus has been suggested to be important in the initiation cascade of migraine attacks based on clinical and biochemical observations. Previous imaging studies could not disentangle the changes due to the attack and those due to the trigger compound. With a novel approach, we assessed hypothalamic neuronal activity in early premonitory phases of glyceryl‐trinitrate (GTN)‐induced and spontaneous migraine attacks. We measured the hypothalamic blood oxygen level‐dependent (BOLD) response to oral glucose ingestion with 3T‐functional magnetic resonance imaging (MRI) in 27 women, 16 with migraine without aura and 11 controls group matched for age and body mass index (BMI), on 1 day without prior GTN administration and on a second day after GTN administration (to coincide with the premonitory phase of an induced attack). Interestingly, subgroups of patients with and without GTN‐triggered attacks could be compared. Additionally, five migraineurs were investigated in a spontaneous premonitory phase. Linear mixed models were used to study between‐ and within‐group effects. Without prior GTN infusion, the BOLD response to glucose was similar in migraine participants and controls (P =.41). After prior GTN infusion, recovery occurred steeper and faster in migraineurs (versus Day 1; P <.0001) and in those who developed an attack versus those who did not (P <.0001). Prior GTN infusion did not alter the glucose‐induced response in controls (versus baseline; P =.71). Just before spontaneous attacks, the BOLD‐response recovery was also faster (P <.0001). In this study, we found new and direct evidence of altered hypothalamic neuronal function in the immediate preclinical phase of both GTN‐provoked and spontaneous migraine attacks. [ABSTRACT FROM AUTHOR]

Published
2021
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43. Case of spontaneous regression of carotid body tumor in a SDHD mutant: a discussion on potential mechanisms based on a review of the literature

Author

Hammer Sebastiaan, Jansen Jeroen C, van der Kleij-Corssmit Eleonora PM, Hes Frederik J, and Kruit Mark C

Subjects
Tumor regression, Head and neck paragangliomas, Spontaneous involution, Surgical resection, Surgery, RD1-811, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Abstract Background Head and neck paragangliomas are tumors associated with the parasympathetic nerve system and typically show an indolent growth pattern. Therefore a conservative management strategy is considered in selected cases. Methods and results We present a case of a female patient who presented in 2003 with bilateral carotid body tumors and a tympanic tumor, associated with a mutation in the succinate dehydrogenase -sub-unit-D (SDHD). She was operated on the right carotid body tumor and the tympanic tumor. Thereafter the follow-up was performed with MR examinations at 2-year intervals. After an initial stable phase, over the last 3 years a spontaneous near-total regression of the contralateral carotid body tumor was observed, with only subtle rest-abnormalities visible in 2011. Conclusions The present case underlines the indolent growth pattern of head and neck paragangliomas and for the first time describes a rare manifestation of spontaneous regression of a carotid body tumor. The literature was reviewed to discuss this phenomenon.

Published
2012
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44. Cerebrovascular reactivity in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.

Author

Hoogeveen, Evelien S, Pelzer, Nadine, Ghariq, Eidrees, van Osch, Matthias JP, Dahan, Albert, Terwindt, Gisela M, and Kruit, Mark C

Abstract

Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic manifestations (RVCL-S) is a small vessel disease caused by TREX1 mutations. RVCL-S is characterized by retinal vasculopathy and brain white matter lesions with and without contrast enhancement. We aimed to investigate cerebrovascular reactivity (CVR) in RVCL-S. In this cross-sectional observational study, 21 RVCL-S patients, 23 mutation-negative family members, and 31 healthy unrelated controls were included. CVR to a hypercapnic challenge was measured using dual-echo arterial spin labeling magnetic resonance imaging. Stratified analyses based on age were performed. We found that CVR was decreased in gray and white matter of RVCL-S patients compared with family members and healthy controls (ANCOVA; P < 0.05 for all comparisons). This was most noticeable in RVCL-S patients aged ≥40 years (ANCOVA, P < 0.05 for all comparisons). In RVCL-S patients aged < 40 years, only CVR in white matter was lower when compared to healthy controls (P < 0.05). Gray matter CVR was associated with white matter lesion volume in RVCL-S patients (r = –0.527, P = 0.01). In conclusion, impaired cerebrovascular reactivity may play an important role in the pathophysiology of RVCL-S and may be an useful early biomarker of cerebrovascular disease severity. [ABSTRACT FROM AUTHOR]

Published
2021
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45. Migraine and vascular disease biomarkers: A population-based case-control study.

Author

Tietjen, Gretchen E., Khubchandani, Jagdish, Herial, Nabeel, Palm-Meinders, Inge H., Koppen, Hille, Terwindt, Gisela M., van Buchem, Mark A., Launer, Lenore J., Ferrari, Michel D., Kruit, Mark C., Tietjen, Gretchen E., Khubchandani, Jagdish, Herial, Nabeel, Palm-Meinders, Inge H., Koppen, Hille, Terwindt, Gisela M., van Buchem, Mark A., Launer, Lenore J., Ferrari, Michel D., and Kruit, Mark C.

Abstract

Background The underpinnings of the migraine-stroke association remain uncertain, but endothelial activation is a potential mechanism. We evaluated the association of migraine and vascular disease biomarkers in a community-based population. Methods Participants (300 women, 117 men) were recruited as a part of the Dutch CAMERA 1 (Cerebral Abnormalities in Migraine, an Epidemiologic Risk Analysis) study. Participants were aged 30-60 (mean 48) years, 155 migraine had with aura (MA), 128 migraine without aura (MO), and 134 were controls with no severe headaches. Plasma concentrations of fibrinogen, Factor II, D-dimer, high sensitivity C-reactive protein (hs-CRP), and von Willebrand factor antigen were compared between groups, also stratifying by sex. Results Fibrinogen and hs-CRP were elevated in migraineurs compared to controls. In logistic regression analyses, MO and MA had increased likelihood of elevated fibrinogen, and MA had increased likelihood of elevated Factor II and hs-CRP. Fibrinogen and Factor II were associated with MA in women but not men. In the migraine subgroup, the total number of years of aura, but not headache, predicted elevated hs-CRP, and the average number of aura, but not headache, attacks predicted all biomarkers but Factor II. Conclusions Elevated vascular biomarkers were associated with migraine, particularly MA, as well as with years of aura and number of aura attacks.

Published
2018

46. Cortical glutamate in migraine

Author

Zielman, Ronald, Wijnen, Jannie P, Webb, Andrew, Onderwater, Gerrit L J, Ronen, Itamar, Ferrari, Michel D., Kan, Hermien E, Terwindt, Gisela M., Kruit, Mark C, Zielman, Ronald, Wijnen, Jannie P, Webb, Andrew, Onderwater, Gerrit L J, Ronen, Itamar, Ferrari, Michel D., Kan, Hermien E, Terwindt, Gisela M., and Kruit, Mark C

Published
2017

47. Cerebellar function and ischemic brain lesions in migraine patients from the general population

Author

Koppen, Hille, Boele, Henk-Jan, Palm-Meinders, Inge H, Koutstaal, Bastiaan J, Horlings, Corinne Gc, Koekkoek, Bas K, van der Geest, Jos, Smit, Albertine E, van Buchem, Mark A, Launer, Lenore J, Terwindt, Gisela M, Bloem, Bas R, Kruit, Mark C, Ferrari, Michel D, De Zeeuw, Chris I, Koppen, Hille, Boele, Henk-Jan, Palm-Meinders, Inge H, Koutstaal, Bastiaan J, Horlings, Corinne Gc, Koekkoek, Bas K, van der Geest, Jos, Smit, Albertine E, van Buchem, Mark A, Launer, Lenore J, Terwindt, Gisela M, Bloem, Bas R, Kruit, Mark C, Ferrari, Michel D, and De Zeeuw, Chris I

Abstract

Objective The objective of this article is to obtain detailed quantitative assessment of cerebellar function and structure in unselected migraine patients and controls from the general population. Methods A total of 282 clinically well-defined participants (migraine with aura n = 111; migraine without aura n = 89; non-migraine controls n = 82; age range 43-72; 72% female) from a population-based study were subjected to a range of sensitive and validated cerebellar tests that cover functions of all main parts of the cerebellar cortex, including cerebrocerebellum, spinocerebellum, and vestibulocerebellum. In addition, all participants underwent magnetic resonance imaging (MRI) of the brain to screen for cerebellar lesions. As a positive control, the same cerebellar tests were conducted in 13 patients with familial hemiplegic migraine type 1 (FHM1; age range 19-64; 69% female) all carrying a CACNA1A mutation known to affect cerebellar function. Results MRI revealed cerebellar ischemic lesions in 17/196 (8.5%) migraine patients and 3/79 (4%) controls, which were always located in the posterior lobe except for one control. With regard to the cerebellar tests, there were no differences between migraine patients with aura, migraine patients without aura, and controls for the: (i) Purdue-pegboard test for fine motor skills (assembly scores p = 0.1); (ii) block-design test for visuospatial ability (mean scaled scores p = 0.2); (iii) prism-adaptation task for limb learning (shift scores p = 0.8); (iv) eyeblink-conditioning task for learning-dependent timing (peak-time p = 0.1); and (v) body-sway test for balance capabilities (pitch velocity score under two-legs stance condition p = 0.5). Among migraine patients, those with cerebellar ischaemic lesions performed worse than those without lesions on the assembly scores of the pegboard task ( p < 0.005), but not on the primary outcome measures of the other tasks. Compared with controls and non-hemiplegic migraine patients

Published
2017

48. Cortical glutamate in migraine

Author

Highfield Research Group, Zielman, Ronald, Wijnen, Jannie P, Webb, Andrew, Onderwater, Gerrit L J, Ronen, Itamar, Ferrari, Michel D., Kan, Hermien E, Terwindt, Gisela M., Kruit, Mark C, Highfield Research Group, Zielman, Ronald, Wijnen, Jannie P, Webb, Andrew, Onderwater, Gerrit L J, Ronen, Itamar, Ferrari, Michel D., Kan, Hermien E, Terwindt, Gisela M., and Kruit, Mark C

Published
2017

49. Proton observed phosphorus editing (POPE) for in vivo detection of phospholipid metabolites

Author

Wijnen, Jannie P, Klomp, DWJ, Nabuurs, Christine I H C, de Graaf, Robin A, van Kalleveen, Irene M L, van der Kemp, Wybe J M, Luijten, Peter R, Kruit, Mark C, Webb, Andrew, Kan, Hermien E, and Boer, Vincent O

Subjects
in vivo, proton observed phosphorus editing, brain, Journal Article, POPE, phospholipids
Abstract

The purpose of this article was to compare the sensitivity of proton observed phosphorus editing (POPE) with direct (31) P MRS with Ernst angle excitation for (1) H-(31) P coupled metabolites at 7 T. POPE sequences were developed for detecting phosphocholine (PC), phosphoethanolamine (PE), glycerophosphocholine (GPC), and glycerophosphoethanolamine (GPE) on the (1) H channel, thereby using the enhanced sensitivity of the (1) H nuclei over (31) P detection. Five healthy volunteers were examined with POPE and (31) P-MRS. POPE editing showed a more than doubled sensitivity in an ideal phantom experiment as compared with direct (31) P MRS with Ernst angle excitation. In vivo, despite increased relaxation losses, significant gains in signal-to-noise ratio (SNR) of 30-40% were shown for PE and GPE + PC levels in the human brain. The SNR of GPC was lower in the POPE measurement compared with the (31) P-MRS measurement. Furthermore, selective narrowband editing on the (31) P channel showed the ability to separate the overlapping GPE and PE signals in the (1) H spectrum. POPE can be used for enhanced detection of (1) H-(31) P coupled metabolites in vivo. Copyright © 2015 John Wiley & Sons, Ltd.

Published
2016

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