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155 results on '"Broeckhoven, C Van"'

1. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (vol 22, pg 1851, 2020)

Author

Roux, T., Barbier, M., Papin, M., Davoine, C.S., Sayah, S., Coarelli, G., Charles, P., Marelli, C., Parodi, L., Tranchant, C., Goizet, C., Klebe, S., Lohmann, E., Maldergem, L. van, Broeckhoven, C. van, Coutelier, M., Tesson, C., Stevanin, G., Duyckaerts, C., Brice, A., Durr, A., and SPATAX Network

Abstract

A Correction to this paper has been published: https://doi.org/10.1038/s41436-020-01064-y

Published
2020

6. Risk left ventricular dysfunction in patients with probable Alzheimer's disease with APOE 4 allele

Author

Cammen, T.J.M. van der, Verschoor, C.J., Loon, C.P.M. van Loon, Harskamp, F. van, Koning, I. de, Schudel, W.J., Slooter, A.J.C., Broeckhoven, C. Van, and Duijn, C.M. van

Subjects
Alzheimer's disease -- Research, Apolipoproteins -- Research, Cardiovascular diseases -- Research, Health, Seniors
Abstract

A study was conducted to examine the link between the apolipoprotein E (APOE) genotype and cardiovascular disease in patients suffering from Alzheimer's disease (AD). A group of 100 patients aged between 59 and 91 were studied. The study revealed a higher rate of cardiovascular disease in patients with probable AD with APOE 4.

Published
1998

8. Immune-related genetic enrichment in frontotemporal dementia

Author

Broce, Iris, Karch, Celeste M., Wen, Natalie, Fan, Chun C., Wang, Yunpeng, Hong Tan, Chin, Kouri, Naomi, Ross, Owen A., Höglinger, Günter U., Muller, Ulrich, Hardy, John, Momeni, Parastoo, Hess, Christopher P., Dillon, William P., Miller, Zachary A., Bonham, Luke W., Rabinovici, Gil D., Rosen, Howard J., Schellenberg, Gerard D., Franke, Andre, Karlsen, Tom H., Veldink, Jan H., Ferrari, Raffaele, Yokoyama, Jennifer S., Miller, Bruce L., Andreassen, Ole A., Dale, Anders M., Desikan, Rahul S., Sugrue, Leo P., Ferrari, R, Hernandez, D G, Nalls, M A, Rohrer, J D, Ramasamy, A, Kwok, J B J, Dobson-Stone, C, Schofield, P R, Halliday, G M, Hodges, J R, Piguet, O, Bartley, L, Thompson, E, Haan, E, Hernández, I, Ruiz, A, Boada, M, Borroni, B, Padovani, A, Cruchaga, C, Cairns, N J, Benussi, L, Binetti, G, Ghidoni, R, Forloni, G, Albani, D, Galimberti, D, Fenoglio, C, Serpente, M, Scarpini, E, Clarimón, J, Lleó, A, Blesa, R, Landqvist Waldö, M, Nilsson, K, Nilsson, C, Mackenzie, I R A, Hsiung, G-Y R, Mann, D M A, Grafman, J, Morris, C M, Attems, J, Griffiths, T D, McKeith, I G, Thomas, A J, Pietrini, P, Huey, E D, Wassermann, E M, Baborie, A, Jaros, E, Tierney, M C, Pastor, P, Razquin, C, Ortega-Cubero, S, Alonso, E, Perneczky, R, Diehl-Schmid, J, Alexopoulos, P, Kurz, A, Rainero, I, Rubino, E, Pinessi, L, Rogaeva, E, George-Hyslop, P St, Rossi, G, Tagliavini, F, Giaccone, G, Rowe, J B, Schlachetzki, J C M, Uphill, J, Collinge, J, Mead, S, Danek, A, Van Deerlin, V M, Grossman, M, Trojanowski, J Q, der Zee, J van, Cruts, M, Broeckhoven, C Van, Cappa, S F, Leber, I, Hannequin, D, Golfier, V, Vercelletto, M, Brice, A, Nacmias, B, Sorbi, S, Bagnoli, S, Piaceri, I, Nielsen, J E, Hjermind, L E, Riemenschneider, M, Mayhaus, M, Ibach, B, Gasparoni, G, Pichler, S, Gu, W, Rossor, M N, Fox, N C, Warren, J D, Spillantini, M G, Morris, H R, Rizzu, P, Heutink, P, Snowden, J S, Rollinson, S, Richardson, A, Gerhard, A, Bruni, A C, Maletta, R, Frangipane, F, Cupidi, C, Bernardi, L, Anfossi, M, Gallo, M, Conidi, M E, Smirne, N, Rademakers, R, Baker, M, Dickson, D W, Graff-Radford, N R, Petersen, R C, Knopman, D, Josephs, K A, Boeve, B F, Parisi, J E, Seeley, W W, Miller, B L, Karydas, A M, Rosen, H, van Swieten, J C, Dopper, E G P, Seelaar, H, Pijnenburg, Y A L, Scheltens, P, Logroscino, G, Capozzo, R, Novelli, V, Puca, A A, Franceschi, M, Postiglione, A, Milan, G, Sorrentino, P, Kristiansen, M, Chiang, H-H, Graff, C, Pasquier, F, Rollin, A, Deramecourt, V, Lebouvier, T, Kapogiannis, D, Ferrucci, L, Pickering-Brown, S, Singleton, A B, Hardy, J, and Momeni, P

Subjects
Genetics, 0303 health sciences, business.industry, nutritional and metabolic diseases, Single-nucleotide polymorphism, Genome-wide association study, Disease, medicine.disease, nervous system diseases, 3. Good health, Progressive supranuclear palsy, 03 medical and health sciences, 0302 clinical medicine, mental disorders, Immunology, Medicine, Corticobasal degeneration, Amyotrophic lateral sclerosis, business, 030217 neurology & neurosurgery, 030304 developmental biology, Genetic association, Frontotemporal dementia
Abstract

BackgroundConverging evidence suggests that immune-mediated dysfunction plays an important role in the pathogenesis of frontotemporal dementia (FTD). Although genetic studies have shown that immune-associated loci are associated with increased FTD risk, a systematic investigation of genetic overlap between immune-mediated diseases and the spectrum of FTD-related disorders has not been performed.Methods and findingsUsing large genome-wide association studies (GWAS) (total n = 192,886 cases and controls) and recently developed tools to quantify genetic overlap/pleiotropy, we systematically identified single nucleotide polymorphisms (SNPs)jointlyassociated with ‘FTD-related disorders’ namely FTD, corticobasal degeneration (CBD), progressive supranuclear palsy (PSP), and amyotrophic lateral sclerosis (ALS) – and one or more immune-mediated diseases including Crohn’s disease (CD), ulcerative colitis (UC), rheumatoid arthritis (RA), type 1 diabetes (T1D), celiac disease (CeD), and psoriasis (PSOR). We found up to 270-fold genetic enrichment between FTD and RA and comparable enrichment between FTD and UC, T1D, and CeD. In contrast, we found only modest genetic enrichment between any of the immune-mediated diseases and CBD, PSP or ALS. At a conjunction false discovery rate (FDR) < 0.05, we identified numerous FTD-immune pleiotropic SNPs within the human leukocyte antigen (HLA)region on chromosome 6. By leveraging the immune diseases, we also found novel FTD susceptibility loci withinLRRK2(Leucine Rich Repeat Kinase 2), TBKBP1(TANK-binding kinase 1 Binding Protein 1), andPGBD5(PiggyBac Transposable Element Derived 5). Functionally, we found that expression of FTD-immune pleiotropic genes (particularly within theHLAregion) is altered in postmortem brain tissue from patients with frontotemporal dementia and is enriched in microglia compared to other central nervous system (CNS) cell types.ConclusionsWe show considerable immune-mediated genetic enrichment specifically in FTD, particularly within theHLAregion. Our genetic results suggest that for a subset of patients, immune dysfunction may contribute to risk for FTD. These findings have potential implications for clinical trials targeting immune dysfunction in patients with FTD.

Published
2017
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9. Classification and diagnostic guidelines for Charcot-Marie-Tooth type 2 (CMT2-HMSN II) and distal hereditary motor neuropathy (distal HMN - spinal CMT)

Author

Jonghe, P. de, Timmermans, V., Visser, M. de, Brice, A., Broeckhoven, C. van, Auer-Grumbach, M., Berciano, J., Beuten, J., Braathen, G.J., Christodoulou, K., Chanchetti, C., Dubourg-LeGuern, O., Engelen, B.G.M. van, Ericson, U., and Gabreëls-Festen, A.A.W.M.

Subjects
Hereditary motor and sensory neuropathies, Hereditaire motore en sensore neuropathieën
Abstract

Item does not contain fulltext

Published
1998

11. Mutation (variation) databases and registries: a rationale for coordination of efforts

Author

Auerbach, A.D., Burn, J., Cassiman, J.J., Claustres, M., Cotton, R.G.H., Cutting, G., Dunnen, J.T. den, El-Ruby, M., Vargas, A.F., Greenblatt, M.S., Macrae, F., Matsubara, Y., Rimoin, D.L., Vihinen, M., Broeckhoven, C. van, Human Variome Project, Department of Clinical Genetics/EMGO Institute for Health and Care research, Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), United Kingdom Met Office [Exeter], Johns Hopkins University School of Medicine [Baltimore], Department of Human Genetics, Leiden University Medical Center (LUMC), Department of Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Medical Genetics Institute, Department of Experimental Medical Science, Lund University [Lund], Neurodegenerative Brain Diseases Group, and VIB

Subjects
[SDV]Life Sciences [q-bio], Human Variome Project, Developing country, computer.software_genre, 03 medical and health sciences, Annotation, 0302 clinical medicine, Resource (project management), Databases, Genetic, Genetics, Humans, Medicine, Relevance (information retrieval), Biology, Molecular Biology, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Database, business.industry, Biobank, 3. Good health, Incentive, Mutation (genetic algorithm), Human medicine, business, computer, 030217 neurology & neurosurgery
Abstract

Here we argue that coor-dination of international efforts for develop -ing comprehensive mutation databases and patient phenotype registries is essential for optimal genetic health care.Well-funded international efforts for set -ting up mutation databases or registries are crucial for several reasons. Many variants that are found during clinical testing world-wide are not submitted to databases, where they could form an important resource for patient care. Many laboratories and clini-cians do not have the capacity or incentive to submit data to databases. This is espe-cially the case in developing countries owing mainly to technical insufficiency, lack of public awareness, lack of international com -munications, the absence of the concept of DNA biobanking, national authority restric -tions and lack of translation from original languages to English. The Human Variome Project (HVP) was initiated to facilitate the collection of all variants in all genes from all countries and to include annotation of these variants for pathogenicity and relevance to clinical medicine

Published
2011
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13. The natural history of hereditary neuralgic amyotrophy in the Dutch population

Author

Airaksinen, E.M., Jonghe, P. de, Dubourg-LeGuern, O., Falck, B., Gabreëls-Festen, A.A.W.M., Kiefer, R., Koski, C., Kuhlenbaumer, G., Lopes, J., Meuleman, J., Pou-Serradell, A., Prats, J.M., Schenone, A., Stogbauer, F., Timmerman, V., Alfen, N. van, Engelen, B.G.M. van, and Broeckhoven, C. van

Subjects
Hereditary neuralgic amyotrophy, Hereditaire neuralgische amyotrofie
Abstract

Item does not contain fulltext

Published
2000

14. Microglial upregulation of progranulin as a marker of motor neuron degeneration.

Author

Philips, T., Muynck, L. De, Thu, H.N., Weynants, B., Vanacker, P., Dhondt, J., Sleegers, K., Schelhaas, H.J., Verbeek, M.M., Vandenberghe, R., Sciot, R., Broeckhoven, C. van, Lambrechts, D., Leuven, F. Van, Bosch, L., Robberecht, W., Damme, P. van, Philips, T., Muynck, L. De, Thu, H.N., Weynants, B., Vanacker, P., Dhondt, J., Sleegers, K., Schelhaas, H.J., Verbeek, M.M., Vandenberghe, R., Sciot, R., Broeckhoven, C. van, Lambrechts, D., Leuven, F. Van, Bosch, L., Robberecht, W., and Damme, P. van

Abstract

01 december 2010, Contains fulltext : 87816.pdf (publisher's version ) (Closed access), Frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) are overlapping neurodegenerative disorders. Mutations in the growth factor progranulin (PGRN) gene cause FTLD, sometimes in conjunction with ALS; such mutations are also observed in some ALS patients. Most PGRN mutations underlying FTLD are null mutations that result in reduced PGRN levels. We investigated PGRN expression in human ALS and in mouse models of motor neuron degeneration. Progranulin plasma or CSF levels in newly diagnosed ALS patients did not differ from those in healthy or disease controls (PGRN mutation-negative FTLD and Alzheimer disease patients). In the mutant SOD1 mouse model of ALS, spinal cord PGRN levels were normal in presymptomatic animals but increased during the degenerative process. This increase in PGRN correlated with enhanced expression of PGRN in microglia. In CSF, PGRN levels were normal in presymptomatic and early symptomatic animals, but with disease progression, a raise in PGRN was detectable. These data indicate that upregulation of PGRN is a marker of the microglial response that occurs with progression in motor neuron diseases.

Published
2010

15. Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.

Author

Es, M.A. van, Vught, P.W. van, Blauw, H.M., Franke, L., Saris, C.G.J., Bosch, L., Jong, S.W. de, Jong, V. de, Baas, F., Slot, R. van 't, Lemmens, R., Schelhaas, H.J., Birve, A., Sleegers, K., Broeckhoven, C. van, Schymick, J.C., Traynor, B.J., Wokke, J.H.J., Wijmenga, C., Robberecht, W., Andersen, P.M., Veldink, J.H., Ophoff, R.A., Berg, L.H. van den, Es, M.A. van, Vught, P.W. van, Blauw, H.M., Franke, L., Saris, C.G.J., Bosch, L., Jong, S.W. de, Jong, V. de, Baas, F., Slot, R. van 't, Lemmens, R., Schelhaas, H.J., Birve, A., Sleegers, K., Broeckhoven, C. van, Schymick, J.C., Traynor, B.J., Wokke, J.H.J., Wijmenga, C., Robberecht, W., Andersen, P.M., Veldink, J.H., Ophoff, R.A., and Berg, L.H. van den

Abstract

Contains fulltext : 70185.pdf (publisher's version ) (Closed access), We identified a SNP in the DPP6 gene that is consistently strongly associated with susceptibility to amyotrophic lateral sclerosis (ALS) in different populations of European ancestry, with an overall P value of 5.04 x 10(-8) in 1,767 cases and 1,916 healthy controls and with an odds ratio of 1.30 (95% confidence interval (CI) of 1.18-1.43). Our finding is the first report of a genome-wide significant association with sporadic ALS and may be a target for future functional studies.

Published
2008

16. Cyclin-dependent kinase 5 is associated with risk for Alzheimer's disease in a Dutch population-based study.

Author

Arias Vasquez, A., Aulchenko, Y.S., Isaacs, A., Oosterhout, A. van, Sleegers, K., Hofman, A., Broeckhoven, C. van, Oostra, B.A., Breteler, M.H.M., Duijn, C.M. van, Arias Vasquez, A., Aulchenko, Y.S., Isaacs, A., Oosterhout, A. van, Sleegers, K., Hofman, A., Broeckhoven, C. van, Oostra, B.A., Breteler, M.H.M., and Duijn, C.M. van

Abstract

Contains fulltext : 69132.pdf (publisher's version ) (Closed access), Although the role of the Cdk5 protein in Alzheimer's disease (AD) is well recognized, there have been relatively few studies investigating genetic variants in the CDK5 gene in AD. In this study, we assessed the association between five previously described single nucleotide polymorphisms (SNPs) in the CDK5 gene and late onset AD by means of logistic regression and haplotype association analyses. Including all prevalent and incident AD cases, we found a significantly increased risk of AD for carriers of the GG genotype of SNP rs2069442 (OR = 1.79, 95 % CI 1.16-2.79, p = 0.001) in those without APOE*4. When limiting the analysis to incident cases without APOE*4, carriers of the GG genotype showed a 1.9-fold increased risk of AD (95 % CI 1.16-3.10, p = 0.003). Variations in the CDK5 gene can be described in 5 haplotype blocks. In our analysis, the haplotype tagged by the G allele of SNP rs2069442 was significantly associated with AD (p = 0.05). In conclusion, our study suggests that CDK5 may be associated with AD.

Published
2008

17. ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study.

Author

Es, M.A. van, Vught, P.W. van, Blauw, H.M., Franke, L., Saris, C.G.J., Andersen, P.M., Bosch, L., Jong, S.W. de, Slot, R. van 't, Birve, A., Lemmens, R., Jong, V. de, Baas, F., Schelhaas, H.J., Sleegers, K., Broeckhoven, C. van, Wokke, J.H.J., Wijmenga, C., Robberecht, W., Veldink, J.H., Ophoff, R.A., Berg, L.H. van den, Es, M.A. van, Vught, P.W. van, Blauw, H.M., Franke, L., Saris, C.G.J., Andersen, P.M., Bosch, L., Jong, S.W. de, Slot, R. van 't, Birve, A., Lemmens, R., Jong, V. de, Baas, F., Schelhaas, H.J., Sleegers, K., Broeckhoven, C. van, Wokke, J.H.J., Wijmenga, C., Robberecht, W., Veldink, J.H., Ophoff, R.A., and Berg, L.H. van den

Abstract

Contains fulltext : 53565.pdf (publisher's version ) (Closed access), BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a devastating disease characterised by progressive degeneration of motor neurons in the brain and spinal cord. ALS is thought to be multifactorial, with both environmental and genetic causes. Our aim was to identify genetic variants that predispose for sporadic ALS. METHODS: We did a three-stage genome-wide association study in 461 patients with ALS and 450 controls from The Netherlands, using Illumina 300K single-nucleotide polymorphism (SNP) chips. The SNPs that were most strongly associated with ALS were analysed in a further 876 patients and 906 controls in independent sample series from The Netherlands, Belgium, and Sweden. We also investigated the possible pathological functions of associated genes using expression data from whole blood of patients with sporadic ALS and of control individuals who were included in the genome-wide association study. FINDINGS: A genetic variant in the inositol 1,4,5-triphosphate receptor 2 gene (ITPR2) was associated with ALS (p=0.012 after Bonferroni correction). Combined analysis of all samples (1337 patients and 1356 controls) confirmed this association (p=3.28x10(-6), odds ratio 1.58, 95% CI 1.30-1.91). ITPR2 expression was greater in the peripheral blood of 126 ALS patients than in that of 126 healthy controls (p=0.00016). INTERPRETATION: Genetic variation in ITPR2 is a susceptibility factor for ALS. ITPR2 is a strong candidate susceptibility gene for ALS because it is involved in glutamate-mediated neurotransmission, is one of the main regulators of intracellular calcium concentrations, and has an important role in apoptosis.

Published
2007

18. A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population.

Author

Liu, F., Arias Vasquez, A., Sleegers, K., Aulchenko, Y.S., Kayser, M., Sanchez-Juan, P., Feng, B.J., Bertoli-Avella, A.M., Swieten, J. van, Axenovich, T.I., Heutink, P., Broeckhoven, C. van, Oostra, B.A., Duijn, C.M. van, Liu, F., Arias Vasquez, A., Sleegers, K., Aulchenko, Y.S., Kayser, M., Sanchez-Juan, P., Feng, B.J., Bertoli-Avella, A.M., Swieten, J. van, Axenovich, T.I., Heutink, P., Broeckhoven, C. van, Oostra, B.A., and Duijn, C.M. van

Abstract

Contains fulltext : 52087.pdf (publisher's version ) (Closed access), Alzheimer disease (AD) is the most common cause of dementia. We conducted a genome screen of 103 patients with late-onset AD who were ascertained as part of the Genetic Research in Isolated Populations (GRIP) program that is conducted in a recently isolated population from the southwestern area of The Netherlands. All patients and their 170 closely related relatives were genotyped using 402 microsatellite markers. Extensive genealogy information was collected, which resulted in an extremely large and complex pedigree of 4,645 members. The pedigree was split into 35 subpedigrees, to reduce the computational burden of linkage analysis. Simulations aiming to evaluate the effect of pedigree splitting on false-positive probabilities showed that a LOD score of 3.64 corresponds to 5% genomewide type I error. Multipoint analysis revealed four significant and one suggestive linkage peaks. The strongest evidence of linkage was found for chromosome 1q21 (heterogeneity LOD [HLOD]=5.20 at marker D1S498). Approximately 30 cM upstream of this locus, we found another peak at 1q25 (HLOD=4.0 at marker D1S218). These two loci are in a previously established linkage region. We also confirmed the AD locus at 10q22-24 (HLOD=4.15 at marker D10S185). There was significant evidence of linkage of AD to chromosome 3q22-24 (HLOD=4.44 at marker D3S1569). For chromosome 11q24-25, there was suggestive evidence of linkage (HLOD=3.29 at marker D11S1320). We next tested for association between cognitive function and 4,173 single-nucleotide polymorphisms in the linked regions in an independent sample consisting of 197 individuals from the GRIP region. After adjusting for multiple testing, we were able to detect significant associations for cognitive function in four of five AD-linked regions, including the new region on chromosome 3q22-24 and regions 1q25, 10q22-24, and 11q25. With use of cognitive function as an endophenotype of AD, our study indicates the that the RGSL2, RALGPS2, and C1orf49 genes

Published
2007

19. Single nucleotide polymorphism analysis of corticotropin-releasing factor-binding protein gene in recurrent major depressive disorder

Author

Eede, F. van den, Venken, T., Del-Favero, J., Norrback, K., Souery, D., Nilsson, L.G., Bossche, B. van den, Hulstijn, W., Sabbe, B.G.C., Cosyns, P., Medlewitz, J., Adolfsson, R., Broeckhoven, C. van, Claes, S.J., Eede, F. van den, Venken, T., Del-Favero, J., Norrback, K., Souery, D., Nilsson, L.G., Bossche, B. van den, Hulstijn, W., Sabbe, B.G.C., Cosyns, P., Medlewitz, J., Adolfsson, R., Broeckhoven, C. van, and Claes, S.J.

Abstract

Contains fulltext : 56634.pdf (publisher's version ) (Closed access), Corticotropin-releasing factor-binding protein (CRF-BP) regulates the availability of free CRF and is a functional candidate gene for affective disorders. Previous research showed an association between polymorphisms in the CRF-BP gene and recurrent major depression (MDD) in a Swedish sample. The purpose of the current study was to re-evaluate the previous findings in an extended Swedish sample and in an independent Belgian sample of patients with recurrent MDD and in control samples. In total, 317 patients and 696 control individuals were included. Five single nucleotide polymorphisms (SNPs) and a deletion polymorphism in the CRF-BP gene were genotyped and the haplotype block structure of the gene was assessed. In the extended Swedish population, there was a trend towards an association between two SNPs and MDD. The subsequent gender analysis showed significant associations of three SNPs (CRF-BPs2 T; CRF-BPs11 T and CRF-BPs12 C) and haplotype G_T_C_T_C with MDD in Swedish males. However, these findings did not withstand correction for multiple testing and there were no significant SNP or haplotype associations in the Belgian MDD sample. In conclusion, this study does not provide confirmatory evidence for a role of the CRF-BP gene in the vulnerability for MDD in general. The association between genetic CRF-BP variants and MDD may be sexually dimorphic, but this issue requires further investigation in a larger sample.

Published
2007

20. Two divergent types of nerve pathology in patients with different Po mutations in Charcot-Marie-Tooth disease

Author

Gabreëls-Festen, A.A.W.M., Hoogendijk, J.E., Meijerink, P.H.S., Gabreëls, F.J.M., Bolhuis, P.A., Beersum, S.E.C. van, Kulkens, T., Nelis, E., Jennekens, F.G.I., Visser, M. de, Engelen, B.G.M. van, Broeckhoven, C. van, and Mariman, E.C.M.

Subjects
Clinical description and delineation of genetic syndromes, Klinische beschrijving en moleculaire definiëring van genetische syndromen
Abstract

Item does not contain fulltext

Published
1996

21. De-novo mutation in hereditary motor and sensory neuropathy type I

Author

Hoogendijk, J.E., Hensels, G.W., Gabreels-Festen, A.A.W.M., Gabreels, F.J.M., Janssen, E.A.M., De Jonghe, P., Martin, J.-J., Broeckhoven, C. van, Valentijn, L.J., Baas, F., De Visser, M., and Bolhuis, P.A.

Subjects
Charcot-Marie-Tooth disease -- Genetic aspects
Published
1992

26. Advances in Charcot-Marie-Tooth disease research : cellular function of CMT-related proteins, transgenic animal models, and pathomechanisms

Author

Müller, H.W., Suter, U., Broeckhoven, C. van, Haneman, O., Nelis, E., Timmerman, V., Sancho, S., Barrio, L., Bolhuis, P., Dermietzel, R., Frank, M., Gabreëls-Festen, A., Gillen, C., Haites, N., Levi, G., Mariman, E.C.M., Martini, R., Nave, K.A., Rautenstrauss, B., Schachner, M., Schenone, A., Schneider, C., Schröder, M., Willecke, K., Müller, H.W., Suter, U., Broeckhoven, C. van, Haneman, O., Nelis, E., Timmerman, V., Sancho, S., Barrio, L., Bolhuis, P., Dermietzel, R., Frank, M., Gabreëls-Festen, A., Gillen, C., Haites, N., Levi, G., Mariman, E.C.M., Martini, R., Nave, K.A., Rautenstrauss, B., Schachner, M., Schenone, A., Schneider, C., Schröder, M., and Willecke, K.

Abstract

Contains fulltext : 24424___.PDF (publisher's version ) (Open Access)

Published
1997

34. Detection of expanded CAG repeats in bipolar affective disorder using the repeat expansion detection method

Author

Lindblad, K., primary, Nylander, P-O., additional, Bryuns, A. De, additional, Souery, D., additional, Zander, C., additional, Engström, C., additional, Holmgren, G., additional, Hudson, T., additional, Chotai, J., additional, Mendlewicz, J., additional, Broeckhoven, C. Van, additional, Schalling, M., additional, and Adolfsson, R., additional

Published
1995
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37. On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family

Author

Martin, J.-J., primary, Regemorter, N. Van, additional, Krols, L., additional, Brucher, J.-M., additional, de Barsy, T., additional, Szliwowski, H., additional, Evrard, P., additional, Ceuterick, C., additional, Tassignon, M.-J., additional, Smet-Dieleman, H., additional, Hayez-Delatte, F., additional, Willems, P. J., additional, and Broeckhoven, C. Van, additional

Published
1994
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39. Increased risk of dementia following mild head injury for carriers but not for non-carriers of the APOE ϵ4 allele.

Author

Sundström, A., Nilsson, L.-G., Cruts, M., R.Adolfsson, Broeckhoven, C. Van, and Nyberg, L.

Abstract

The article reports on the e4 allele of apolipoprotein E (APOE) and head injury and its relation to dementia. The e4 allele of apolipoprotein E (APOE) and head injury risks are considered risks factors for dementia diseases. A study was conducted to examine the relation of mild head injury, APOE and dementia. The study used 543 subjects whose ages are 40 to 85 years old. The results show that people with head injury but do not have APOE e4 have no increased risk of dementia.

Published
2007
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40. Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder

Author

St George-Hyslop, P. H., primary, Haines, J. L., additional, Farrer, L. A., additional, Polinsky, R., additional, Broeckhoven, C. Van, additional, Goate, A., additional, McLachlan, D. R. Crapper, additional, Orr, H., additional, Bruni, A. C., additional, Sorbi, S., additional, Rainero, I., additional, Foncin, J.-F., additional, Pollen, D., additional, Cantu, J-M., additional, Tupler, R., additional, Voskresenskaya, N., additional, Mayeux, R., additional, Growdon, J., additional, Fried, V. A., additional, Myers, R. H., additional, Nee, L., additional, Backhovens, H., additional, Martin, J-J., additional, Rossor, M., additional, Owen, M. J., additional, Mullan, M., additional, Percy, M. E., additional, Karlinsky, H., additional, Rich, S., additional, Heston, L., additional, Montesi, M., additional, Mortilla, M., additional, Nacmias, N., additional, Gusella, J. F., additional, and Hardy, J. A., additional

Published
1990
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41. Progranulingenetic variability contributes to amyotrophic lateral sclerosisSYMBOLSYMBOL

Author

Sleegers, K, Brouwers, N, Maurer-Stroh, S, Es, M A. van, Damme, P Van, Vught, P W.J. van, van der Zee, J, Serneels, S, Pooter, T De, Van den Broeck, M, Cruts, M, Schymkowitz, J, Jonghe, P De, Rousseau, F, Berg, L H. van den, Robberecht, W, and Broeckhoven, C Van

Abstract

Null mutations in progranulin(PGRN) cause ubiquitin-positive frontotemporal dementia (FTD) linked to chromosome 17q21 (FTDU-17). Here we examined PGRNgenetic variability in amyotrophic lateral sclerosis (ALS), a neurodegenerative motor neuron disease that overlaps with FTD at a clinical, pathologic, and epidemiologic level.

Published
2008
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42. Effect of the APOE-491A/T promoter polymorphism on apolipoprotein E levels and risk of Alzheimer disease: The Rotterdam Study

Author

Roks, G., Cruts, M., Houwing-Duistermaat, J.J., Dermaut, B., Serneels, S., Havekes, L.M., Hofman, A., Breteler, M.M.B., and Broeckhoven, C. Van

Abstract

The apolipoprotein E (APOE) gene is involved in lipid transport. A common polymorphism in this gene with the APOE*2, APOE*3, and APOE*4 alleles influences plasma levels of apolipoprotein E and cholesterol. Besides its role in lipid transport, the APOE*4 allele is a genetic risk factor for Alzheimer disease (AD). Recently, a polymorphism in the APOE promoter region was found to be involved in plasma apolipoprotein E levels and was found associated with AD. We studied the effect of this −491A/T promoter polymorphism on plasma apolipoprotein E levels and risk for AD in a population-based case-control study. We found that there was a modest but statistically significant effect of the −491A/T polymorphism on plasma apolipoprotein E levels independent of the APOE genotype. The lowest plasma levels were measured for the AA genotype, highest levels for the TT genotype, and intermediate levels for the heterozygotes. There was a small effect of the −491 AA genotype on AD risk that disappeared after adjusting for APOE genotypes. Our data suggest that the −491A/T polymorphism has an APOE genotype-independent effect on plasma apolipoprotein E levels but no APOE-independent effect on AD risk. © 2002 Wiley-Liss, Inc.

Published
2002
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45. 5-HT2a receptor polymorphism gene in bipolar disorder and harm avoidance personality trait

Author

Blairy, S., Massat, I., Staner, L., Bon, O. Le, Gestel, S. Van, Broeckhoven, C. Van, Hilger, C., Hentges, F., Souery, D., and Mendlewicz, J.

Abstract

The pupose of this study was to investigate the relationship between bipolar disorder and the harm avoidance personality trait (HA), and the genetic contribution of the polymorphic DNA variation T102C in exon 1 of 5-HTR2a (chromosome 13q14–21) in bipolar disorder and HA personality trait. Forty bipolar patients and 89 normal subjects completed the TPQ questionnaire and were genotyped for 5-HT2a. Bipolar patients scored higher than normal subjects on the HA dimension. However, no contribution of the 5-HTR2a polymorphism on the bipolar disorder or on the HA personality trait emerged. Despite the limited sample size, these results exclude a major effect of the 5-HTR2a polymorphism on bipolar disorder and HA personality trait but not a minor effect. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:360–364, 2000. © 2000 Wiley-Liss, Inc.

Published
2000
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49. Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation

Author

Del-Favero, J., Goossens, D., Jonghe, P. De, Benson, K., Michalik, A., Bossche, D. Van den, Horwitz, M., and Broeckhoven, C. Van

Abstract

Abstract. Pure autosomal dominant spastic paraplegia (SPG) is a genetically heterogeneous neurodegenerative disorder of the central nervous system clinically characterized by progressive spasticity mainly affecting the lower limbs. Three distinct loci have been mapped to chromosomes 14q (SPG3), 2p (SPG4) and 15q (SPG6). In particular, SPG4 families show striking intrafamilial variability suggestive of anticipation and evidence has been provided that CAG/CTG repeat expansions may be involved. To isolate CAG/CTG repeat containing sequences from within the SPG4 candidate region, a novel approach was developed. Fragmentation vectors were assembled allowing direct fragmentation of yeast artificial chromosomes (YACs) with a short (≥21 bp) CAG/CTG sequence as the target site for homologous recombination. We used the CAG/CTG YAC fragmentation vectors to isolate CAG/CTG containing sequences from four YACs spanning the SPG4 candidate region between D2S400 and D2S367. A total of four CAG/CTG containing sequences were isolated of which three were novel. However, none of the four CAG/CTG repeats showed expanded alleles in two Belgian SPG4 families. In addition, we showed that the CAG/CTG alleles detected by the repeat expansion detection (RED) method could be fully explained by two polymorphic nonpathogenic CAG/CTG repeats on chromosomes 17 and 18, respectively. Also, the RED expansions in six SPG families could not be explained by amplification of the CAG/CTG repeats at the SPG4 locus. Together, our data do not support the hypothesis of a CAG/CTG repeat expansion as the molecular mechanism underlying SPG4 pathology.

Published
1999
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