Laura Donker Kaat

2024

The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes

Vos, N., Haghshenas, S., van der Laan, L., Russel, P. K. M., Rooney, K., Levy, M. A., Relator, R., Kerkhof, J., McConkey, H., Maas, S. M., Vissers, L. E. L. M., de Vries, B. B. A., Pfundt, R., Elting, M. W., van Hagen, J. M., Verbeek, N. E., Jongmans, M. C. J., Lakeman, P., Rumping, L. & Bosch, D. G. M. & 40 others, Vitobello, A., Thauvin-Robinet, C., Faivre, L., Nambot, S., Garde, A., Willems, M., Genevieve, D., Nicolas, G., Busa, T., Toutain, A., Gérard, M., Bizaoui, V., Isidor, B., Merla, G., Accadia, M., Schwartz, C. E., Ounap, K., Hoffer, M. J. V., Nezarati, M. M., van den Boogaard, M. J. H., Tedder, M. L., Rogers, C., Brusco, A., Ferrero, G. B., Spodenkiewicz, M., Sidlow, R., Mussa, A., Trajkova, S., McCann, E., Mroczkowski, H. J., Jansen, S., Donker-Kaat, L., Duijkers, F. A. M., Stuurman, K. E., Mannens, M. M. A. M., Alders, M., Henneman, P., White, S. M., Sadikovic, B. & van Haelst, M. M., Jun 2024, In: Human Genetics. 143, 6, p. 761-773 13 p.

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Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases

Kerkhof, J., Rastin, C., Levy, M. A., Relator, R., McConkey, H., Demain, L., Dominguez-Garrido, E., Kaat, L. D., Houge, S. D., DuPont, B. R., Fee, T., Fletcher, R. S., Gokhale, D., Haukanes, B. I., Henneman, P., Hilton, S., Hilton, B. A., Jenkinson, S., Lee, J. A. & Louie, R. J. & 15 others, Motazacker, M. M., Rzasa, J., Stevenson, R. E., Plomp, A., van der Laan, L., van der Smagt, J., Walden, K. K., Banka, S., Mannens, M., Skinner, S. A., Friez, M. J., Campbell, C., Tedder, M. L., Alders, M. & Sadikovic, B., May 2024, In: Genetics in Medicine. 26, 5, 101075.

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6 Citations (Scopus)

Recruitment of trimeric eIF2 by phosphatase non-catalytic subunit PPP1R15B

Fatalska, A., Hodgson, G., Freund, S. M. V., Maslen, S. L., Morgan, T., Thorkelsson, S. R., van Slegtenhorst, M., Lorenz, S., Andreeva, A., Kaat, L. D. & Bertolotti, A., 1 Feb 2024, In: Molecular Cell. 84, 3, p. 506-521.e11

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TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Almousa, H., Lewis, S. A., Bakhtiari, S., Nordlie, S. H., Pagnozzi, A., Magee, H., Efthymiou, S., Heim, J. A., Cornejo, P., Zaki, M. S., Anwar, N., Maqbool, S., Rahman, F., Neilson, D. E., Vemuri, A., Jin, S. C., Yang, X. R., Heidari, A., Van Gassen, K. & Trimouille, A. & 40 others, Thauvin-Robinet, C., Liu, J., Bruel, A. L., Tomoum, H., Shata, M. O., Hashem, M. O., Toosi, M. B., Karimiani, E. G., Yeşil, G., Lingappa, L., Baruah, D., Ebrahimzadeh, F., Van-Gils, J., Faivre, L., Zamani, M., Galehdari, H., Sadeghian, S., Shariati, G., Mohammad, R., Van Der Smagt, J., Qari, A., Vincent, J. B., Innes, A. M., Dursun, A., Özgül, R. K., Akar, H. T., Bilguvar, K., Mignot, C., Keren, B., Raveli, C., Burglen, L., Afenjar, A., Kaat, L. D., Van Slegtenhorst, M., Alkuraya, F., Houlden, H., Padilla-Lopez, S., Maroofian, R., Sacher, M. & Kruer, M. C., Jan 2024, In: Brain. 147, 1, p. 311-324 14 p.

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1 Citation (Scopus)

2023

Addition of the FTD Module to the Neuropsychiatric Inventory improves classification of frontotemporal dementia spectrum disorders

Jiskoot, L. C., Russell, L. L., Greaves, C. V., van Schaik, E., van den Berg, E., Poos, J. M., de Boer, L., Donker Kaat, L., Seelaar, H., Pijnenburg, Y. A. L., van Swieten, J. C. & Rohrer, J. D., May 2023, In: Journal of Neurology. 270, 5, p. 2674-2687 14 p.

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DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency

Coenen-van der Spek, J., Relator, R., Kerkhof, J., McConkey, H., Levy, M. A., Tedder, M. L., Louie, R. J., Fletcher, R. S., Moore, H. W., Childers, A., Farrelly, E. R., Champaigne, N. L., Lyons, M. J., Everman, D. B., Rogers, R. C., Skinner, S. A., Renck, A., Matalon, D. R., Dills, S. K. & Monteleone, B. & 9 others, Demirdas, S., Dingemans, A. J. M., Donker Kaat, L., Kolk, S. M., Pfundt, R., Rump, P., Sadikovic, B., Kleefstra, T. & Butler, K. M., Jan 2023, In: Genetics in Medicine. 25, 1, p. 63-75 13 p.

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4 Citations (Scopus)

2022

Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy

Schwantje, M., Ebberink, M. S., Doolaard, M., Ruiter, J. P. N., Fuchs, S. A., Darin, N., Hedberg-Oldfors, C., Régal, L., Donker Kaat, L., Huidekoper, H. H., Olpin, S., Cole, D., Moat, S. J., Visser, G. & Ferdinandusse, S., Jul 2022, In: Journal of Inherited Metabolic Disease. 45, 4, p. 819-831 13 p.

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Mapping the genetic landscape of early-onset Alzheimer’s disease in a cohort of 36 families

Mol, M. O., van der Lee, S. J., Netherlands Brain Bank, Hulsman, M., Pijnenburg, Y. A. L., Scheltens, P., Seelaar, H., van Swieten, J. C., Kaat, L. D., Holstege, H. & van Rooij, J. G. J., 1 Jun 2022, In: Alzheimer's Research and Therapy. 14, 1, 77.

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Mindfulness-Based Stress Reduction in Pre-symptomatic Genetic Frontotemporal Dementia: A Pilot Study

Poos, J. M., van den Berg, E., Papma, J. M., van der Tholen, F. C., Seelaar, H., Donker Kaat, L., Kievit, J. A., Tibben, A., van Swieten, J. C. & Jiskoot, L. C., 27 Apr 2022, In: Frontiers in Psychiatry. 13, 864391.

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2021

Distinctive pattern of temporal atrophy in patients with frontotemporal dementia and the I383V variant in TARDBP

Mol, M. O., Nijmeijer, S. W. R., Van Rooij, J. G. J., Van Spaendonk, R. M. L., Pijnenburg, Y. A. L., Van Der Lee, S. J., Van Minkelen, R., Donker Kaat, L., Rozemuller, A. J. M., Janse Van Mantgem, M. R., Van Rheenen, W., Van Es, M. A., Veldink, J. H., Hennekam, F. A. M., Vernooij, M., Van Swieten, J. C., Cohn-Hokke, P. E., Seelaar, H. & Dopper, E. G. P., 1 Jul 2021, In: Journal of Neurology, Neurosurgery and Psychiatry. 92, 7, p. 787-789 3 p.

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5 Citations (Scopus)

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Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia

Mol, M. O., Wong, T. H., Melhem, S., Basu, S., Viscusi, R., Galjart, N., Rozemuller, A. J. M., Fallini, C., Landers, J. E., Kaat, L. D., Seelaar, H., Van Rooij, J. G. J. & Van Swieten, J. C., Jun 2021, In: Neurology: Genetics. 7, 3, 11 p., e596.

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17 Citations (Scopus)

Modelling the cascade of biomarker changes in GRN-related frontotemporal dementia

Panman, J. L., Venkatraghavan, V., GENFI consortium investigators, van der Ende, E. L., Steketee, R. M. E., Jiskoot, L. C., Poos, J. M., Dopper, E. G. P., Meeter, L. H. H., Donker Kaat, L., Rombouts, S. A. R. B., Vernooij, M. W., Kievit, A. J. A., Premi, E., Cosseddu, M., Bonomi, E., Olives, J., Rohrer, J. D., Sánchez-Valle, R. & Borroni, B. & 4 others, Bron, E. E., Van Swieten, J. C., Papma, J. M. & Klein, S., 1 May 2021, In: Journal of Neurology, Neurosurgery and Psychiatry. 92, 5, p. 494-501 8 p.

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Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

Polla, D. L., Farazi Fard, M. A., Tabatabaei, Z., Habibzadeh, P., Levchenko, O. A., Nikuei, P., Makrythanasis, P., Hussain, M., von Hardenberg, S., Zeinali, S., Fallah, M. S., Schuurs-Hoeijmakers, J. H. M., Shahzad, M., Fatima, F., Fatima, N., Kaat, L. D., Bruggenwirth, H. T., Fleming, L. R., Condie, J. & Ploski, R. & 30 others, Pollak, A., Pilch, J., Demina, N. A., Chukhrova, A. L., Sergeeva, V. S., Venselaar, H., Masri, A. T., Hamamy, H., Santoni, F. A., Linda, K., Ahmed, Z. M., Nadif Kasri, N., de Brouwer, A. P. M., Bergmann, A. K., Hethey, S., Yavarian, M., Ansar, M., Riazuddin, S., Riazuddin, S., Silawi, M., Ruggeri, G., Pirozzi, F., Eftekhar, E., Taghipour Sheshdeh, A., Bahramjahan, S., Mirzaa, G. M., Lavrov, A. V., Antonarakis, S. E., Faghihi, M. A. & van Bokhoven, H., 6 Apr 2021, In: Genetics in Medicine. 23, 7, p. 1246-1254 9 p.

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Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients

Mol, M., van Rooij, J., Wong, T., Melhem, S., Verkerk, A., Kievit, A., van Minkelen, R., Rademakers, R., Pottier, C., Donker Kaat, L., Seelaar, H., van Swieten, J. C. & Dopper, E., Jan 2021, In: Neurobiology of Aging. 97, p. 148.e9-148.e16

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2020

Cognitive profiles discriminate between genetic variants of behavioral frontotemporal dementia

Poos, J. M., Jiskoot, L. C., Leijdesdorff, S. M. J., Seelaar, H., Panman, J. L., van der Ende, E. L., Mol, M. O., Meeter, L. H. H., Pijnenburg, Y. A. L., Donker Kaat, L., de Jong, F. J., van Swieten, J. C., Papma, J. M. & van den Berg, E., Jun 2020, In: Journal of Neurology. 267, 6, p. 1603-1612 10 p.

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20 Citations (Scopus)

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A case of co-occurrence of radiation-induced leukoencephalopathy and CADASIL

Donker Kaat, L., van der Wielen-jongen, J., Kruit, M., Bromberg, J., Baas, F. & Oberstein, S., 2020, In: Neurology-Clinical Practice. 10, 3, p. E19-E21

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Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

Moore, K., Nicholas, J., Grossman, M., McMillan, C., Irwin, D., Massimo, L., van Swieten, J. C., Jiskoot, L., Meeter, L., Dopper, E., Papma, J., Poos, J., van der Ende, E., Panman, J., Donker Kaat, L., Seelaar, H., Ramos, E. & Geschwind, D., 2020, In: Lancet Neurology. 19, 2, p. 145-156 12 p.

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191 Citations (Scopus)

Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation

Mol, M., van Rooij, J., Brusse, E., Verkerk, A., Melhem, S., den Dunnen, W., Rizzu, P., Cupidi, C., van Swieten, J. C. & Donker Kaat, L., 2020, In: Neurology. Genetics. 6, 3, e417.

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20 Citations (Scopus)

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Distribution patterns of tau pathology in progressive supranuclear palsy

Kovacs, G., Lukic, M., Irwin, D., Arzberger, T., Respondek, G., Lee, E., Coughlin, D., Giese, A., Grossman, M., Kurz, C., McMillan, C., Gelpi, E., Compta, Y., van Swieten, J. C., Donker Kaat, L., Troakes, C., Al-Sarraj, S., Robinson, J., Roeber, S. & Xie, S. & 3 others, Lee, V., Trojanowski, J. & Höglinger, G., 2020, In: Acta Neuropathologica. 140, 2, p. 99-119 21 p.

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LRP10 variants in progressive supranuclear palsy

Vergouw, L., Melhem, S., Donker Kaat, L., Chiu, W. Z., Kuipers, D., Breedveld, G., Boon, A., Wang, L., Naj, A., Mlynarksi, E., Cantwell, L., Quadri, M., Ross, O., Dickson, D., Schellenberg, G., van Swieten, J. C., Bonifati, V. & de Jong, F. J., 2020, In: Neurobiology of Aging. 94

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6 Citations (Scopus)

Somatic TARDBP variants as a cause of semantic dementia

Rooij, J., Mol, M., Melhem, S., Wal, P., Arp, P., Paron, F., Donker Kaat, L., Seelaar, H., Miedema, S., Oshima, T., Eggen, B., Uitterlinden, A., Meurs, J., van Kesteren, R., Smit, A., Buratti, E. & Swieten, J., 2020, In: Brain. 143, 12, p. 3827-3841 15 p.

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2019

Longitudinal multimodal MRI as prognostic and diagnostic biomarker in presymptomatic familial frontotemporal dementia

Jiskoot, L. C., Panman, J. L., Meeter, L. H., Dopper, E. G. P., Donker Kaat, L., Franzen, S., Van Der Ende, E. L., Van Minkelen, R., Rombouts, S. A. R. B., Papma, J. M. & Van Swieten, J. C., Jan 2019, In: Brain. 142, 1, p. 193-208 16 p.

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70 Citations (Scopus)

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Clinical value of cerebrospinal fluid neurofilament light chain in semantic dementia

Meeter, L., Steketee, R., Salkovic, D., Vos, M., Grossman, M., McMillan, C., Irwin, D., Boxer, A., Rojas, J., Olney, N., Karydas, A., Miller, B., Pijnenburg, Y., Barkhof, F., Sanchez-Valle, R., Llado, A., Borrego-Ecija, S., Diehl-Schmid, J., Grimmer, T. & Goldhardt, O. & 27 others, Santillo, A., Hansson, O., Vestberg, S., Borroni, B., Padovani, A., Galimberti, D., Scarpini, E., Rohrer, J., Woollacott, I., Synofzik, M., Wilke, C., De Mendonca, A., Vandenberghe, R., Benussi, L., Ghidoni, R., Binetti, G., Niessen, W., Papma, J., Seelaar, H., Jiskoot, L., de Jong, F. J., Donker Kaat, L., Del Campo, M., Teunissen, C., Bron, E., van den Berg, E. & van Swieten, J. C., 2019, In: Journal of Neurology Neurosurgery and Psychiatry. 90, 9, p. 997-1004 8 p.

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Putting genome-wide sequencing in neonates into perspective

van der Sluijs, P., Aten, E., Barge-Schaapveld, D., Bijlsma, E., Bokenkamp-Gramann, R., Donker Kaat, L., van Doorn, R., van de Putte, D., van Haeringen, A., ten Harkel, A., Hilhorst-Hofstee, Y., Hoffer, M., den Hollander, N., Ierland, Y., Koopmans, M., Kriek, M., Moghadasi, S., Nibbeling, E., Peeters-Scholte, C. & Potjer, T. & 12 others, van Rij, M., Ruivenkamp, C., Rutten, J., Steggerda, S., Suerink, M., Tan, R., van der Tuin, K., Visser, R., van der Werf-'t Lam, A., Williams, M., Witlox, R. & Santen, G., 2019, In: Genetics in Medicine. 21, 5, p. 1074-1082 9 p.

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15 Citations (Scopus)

2018

Longitudinal cognitive biomarkers predicting symptom onset in presymptomatic frontotemporal dementia

Jiskoot, L., Panman, J., van Asseldonk, L., Franzen, S., Meeter, L., Donker Kaat, L., van der Ende, E., Dopper, E., Timman, R., van Minkelen, R., van Swieten, J. C., van den Berg, E. & Papma, J., Jun 2018, In: Journal of Neurology. 265, 6, p. 1381-1392 12 p.

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51 Citations (Scopus)

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Clinical value of neurofilament and phospho-tau/tau ratio in the frontotemporal dementia spectrum

Meeter, L., Vijverberg, E., Del Campo, M., Rozemuller, A., Donker Kaat, L., de Jong, F. J., van der Flier, W., Teunissen, C., van Swieten, J. C. & Pijnenburg, Y., 2018, In: Neurology. 90, 14, p. E1231-+

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97 Citations (Scopus)

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Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers

Meeter, L., Gendron, T., Sias, A., Jiskoot, L., Russo, S., Donker Kaat, L., Papma, J., Panman, J., van der Ende, E., Dopper, E., Franzen, S., Graff, C., Boxer, A., Rosen, H., Sanchez-Valle, R., Galimberti, D., Pijnenburg, Y., Benussi, L., Ghidoni, R. & Borroni, B. & 21 others, Laforce, R., Del Campo, M., Teunissen, C., van Minkelen, R., Rojas, J., Coppola, G., Geschwind, D., Rademakers, R., Karydas, A., Oijerstedt, L., Scarpini, E., Binetti, G., Padovani, A., Cash, D., Dick, K. M., Bocchetta, M., Miller, B., Rohrer, J., Petrucelli, L., van Swieten, J. C. & Lee, S., 2018, In: Annals of Clinical and Translational Neurology. 5, 5, p. 583-597 15 p.

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Presymptomatic white matter integrity loss in familial frontotemporal dementia in the GENFI cohort: A cross-sectional diffusion tensor imaging study

Jiskoot, L., Bocchetta, M., Nicholas, J., Cash, D., Thomas, D., Modat, M., Ourselin, S., Rombouts, S., Dopper, E., Meeter, L., Panman, J., van Minkelen, R., van der Ende, E., Donker Kaat, L., Pijnenburg, Y., Borroni, B., Galimberti, D., Masellis, M., Tartaglia, M. & Rowe, J. & 10 others, Graff, C., Tagliavini, F., Frisoni, G., Laforce, R., Finger, E., De Mendonca, A., Sorbi, S., Papma, J., van Swieten, J. C. & Rohrer, J., 2018, In: Annals of Clinical and Translational Neurology. 5, 9, p. 1025-1036 12 p.

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Serum neurofilament light chain in progressive supranuclear palsy

Donker Kaat, L., Meeter, L., Chiu, W. Z., Melhem, S., Boon, A., Blennow, K., Zetterberg, H. & van Swieten, J. C., 2018, In: Parkinsonism & Related Disorders. 56, p. 98-101 4 p.

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45 Citations (Scopus)

2017

Imaging and fluid biomarkers in frontotemporal dementia

Meeter, L., Donker Kaat, L., Rohrer, J. & van Swieten, J. C., 2017, In: Nature Reviews Neurology. 13, 7, p. 406-419 14 p.

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143 Citations (Scopus)

Multireceptor fingerprints in progressive supranuclear palsy

Chiu, W. Z., Donker Kaat, L., Boon, A., Kamphorst, W., Schleicher, A., Zilles, K., van Swieten, J. C. & Palomero-Gallagher, N., 2017, In: Alzheimers Research & Therapy. 9, 28.

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4 Citations (Scopus)

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2012

Midcingulate involvement in progressive supranuclear palsy and tau positive frontotemporal dementia

Chiu, W. Z., Papma, J., Koning, I., Donker Kaat, L., Seelaar, H., Reijs, Valkema, R., Hasan, D., Boon, A. & van Swieten, J. C., 2012, In: Journal of Neurology Neurosurgery and Psychiatry. 83, 9, p. 910-915 6 p.

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27 Citations (Scopus)

2011

Recent Advances in Progressive Supranuclear Palsy: A Review

Donker Kaat, L., Chiu, W. Z., Boon, A. & van Swieten, J. C., 2011, In: Current Alzheimer Research. 8, 3, p. 295-302 8 p.

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11 Citations (Scopus)

2009

Familial aggregation of parkinsonism in progressive supranuclear palsy

Donker Kaat, L., Boon, A., Azmani, A., Kamphorst, W., Breteler, M., Anar, B., Heutink, P. & van Swieten, J. C., 2009, In: Neurology. 73, 2, p. 98-105 8 p.

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54 Citations (Scopus)

2008

Distinct genetic forms of frontotemporal dementia

Seelaar, H., Kamphorst, W., Rosso, S., Azmani, A., Masdjedi, R., Koning, I., Maat-Kievit, J., Anar, B., Donker Kaat, L., Breedveld, G., Dooijes, D., Rozemuller, J., Bronner, I., Rizzu, P. & van Swieten, J. C., 2008, In: Neurology. 71, 16, p. 1220-1226 7 p.

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171 Citations (Scopus)

2007

Frontal presentation in progressive supranuclear palsy

Donker Kaat, L., Boon, A., Kamphorst, W., Ravid, R., Duivenvoorden, H. & van Swieten, J. C., 2007, In: Neurology. 69, 8, p. 723-729 7 p.

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156 Citations (Scopus)

Progranulin mutations in Dutch familial frontotemporal lobar degeneration

Bronner, I., Rizzu, P., Seelaar, H., van Mil, S., Anar, B., Azmani, A., Donker Kaat, L., Rosso, S., Heutink, P. & van Swieten, J. C., 2007, In: European Journal of Human Genetics. 15, 3, p. 369-374 6 p.

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50 Citations (Scopus)

2006

CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia

Rizzu, P., van Mil, S., Anar, B., Rosso, S., Donker Kaat, L., Heutink, P. & van Swieten, J. C., 2006, In: American Journal of Medical Genetics Part B-Neuropsychiatric Genetics. 141B, 8, p. 944-946 3 p.

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35 Citations (Scopus)

2004

Progressive supranuclear palsy; an unusual form of parkinsonism

Donker Kaat, L., Boon, A., Heutink, P. & van Swieten, J. C., 2004, In: Nederlands Tijdschrift voor Geneeskunde. 148, p. 519-523 5 p.

Research output: Contribution to journal › Article › Academic

2003

Frontotemporal dementia in the Netherlands: patient characteristics and prevalence estimates from a pupulation-based study

Rosso, S., Donker Kaat, L., Baks, T., Joosse, M., Koning, I., Pijnenburg, Y., de Jong, D., Dooijes, D., Kamphorst, W., Ravid, R., Niermeijer, M., Verheij, F., Kremer, H., Scheltens, P., Duijn, C., Heutink, P. & van Swieten, J. C., 2003, In: Brain. 126, p. 2016-2022 7 p.

Research output: Contribution to journal › Article › Academic › peer-review

425 Citations (Scopus)

Medical and environmental risk factors for sporadic frontotemporal dementia: a retrospective case-control study

Rosso, S., Landweer, E., Houterman, M., Donker Kaat, L., Duijn, C. & van Swieten, J. C., 2003, In: Journal of Neurology Neurosurgery and Psychiatry. 74, p. 1574-1576 3 p.

Research output: Contribution to journal › Article › Academic › peer-review

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117 Citations (Scopus)

16 Downloads (Pure)

Laura Donker Kaat

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