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3. Studienprotokoll der VISEP-Studie: Entgegnung der SepNet-Studiengruppe

Author

Reinhart, K., Brunkhorst, F.M., Engel, C., Bloos, F., Meier-Hellmann, A., Ragaller, M., Weiler, N., Moerer, O., Gruendling, M., Oppert, M., Grond, S., Olthoff, D., Jaschinski, U., John, S., Rossaint, R., Welte, T., Schaefer, M., Kern, P., Kuhnt, E., Kiehntopf, M., Deufel, T., Hartog, C., Gerlach, H., Stüber, F., Volk, H.-D., Quintel, M., Loeffler, M., and für die Deutsche Studiengruppe Kompetenznetzwerk Sepsis (SepNet)

Published
2008
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6. Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene

Author

Bonsch, D, Schwindt, A, Navratil, P, Palm, D, Neumann, C, Klimpe, S, Schickel, J, Hazan, J, Weiller, C, Deufel, T, and Liepert, J

Subjects
Gene mutations -- Physiological aspects -- Research -- Methods -- Analysis -- Health aspects -- Genetic aspects, DNA -- Genetic aspects -- Analysis -- Research -- Health aspects -- Physiological aspects -- Methods, Nervous system diseases -- Genetic aspects -- Health aspects -- Research, Patients -- Health aspects -- Medical examination -- Genetic aspects -- Physiological aspects -- Research -- Methods -- Analysis, Genotype -- Physiological aspects -- Health aspects -- Research -- Analysis -- Genetic aspects -- Methods, Heredity -- Genetic aspects -- Health aspects -- Physiological aspects -- Methods -- Analysis -- Research, Clinical neuropsychology -- Research -- Health aspects -- Analysis -- Physiological aspects -- Methods, Phenotype -- Genetic aspects -- Physiological aspects -- Research -- Health aspects -- Analysis -- Methods, Health, Psychology and mental health, Analysis, Physiological aspects, Medical examination, Genetic aspects, Research, Methods, Health aspects
Abstract

Background: Hereditary spastic paraparesis (HSP) denotes a group of inherited neurological disorders with progressive lower limb spasticity as their clinical hallmark; a large proportion of autosomal dominant HSP belongs to [...]

Published
2003

9. Royal academy of medicine in Ireland international conference on homocysteine metabolism from basic science to clinical medicine: Proceedings of meeting held at Dromoland Castle, Co. Clare on July 2nd–6th, 1995

Author

Björkegren, K., Bergmark, C., de Faire, U., Mansoor, M. Azam, Svardal, A., Bostom, A. G., Roubenoff, R., Dellaripa, P., Nadeau, M. R., Sutherland, P., Wilson, P. W. F., Jacques, P. F., Selhub, J., Rosenberg, I. H., Bostom, A. G., Brosnan, J. T., Hall, B., Nadeau, M. R., Selhub, J., Bostom, A. G., Shemin, D., Lapane, K. L., Sutherland, P., Nadeau, M. R., Wilson, P. W. F., Selhub, J., Bostom, A. G., Shemin, D., Nadeau, M. R., Selhub, J., Bostom, A. G., Selhub, J., Jacques, P. F., Nadeau, M. R., Williams, R. R., Ellison, R. C., Cuskelly, G. J., McNulty, H., Strain, J. J., McPartlin, J. M., Scott, J. M., Chadefaux-Vekemans, B., Coudé, M., Aupetit, J., Kamoun, P., Coudé, M., Aral, B., Zabot, M. T., Aupetit, J., Kamoun, P., Chadefaux-Vekemans, B., Calaf, R., Ghiringelli, O., Barlatier, A., Charpiot, P., Rolland, P. H., Garçon, D., Charpiot, P., Augier, T., Chareyre, C., Rolland, P. H., Garçon, D., Chango, A., Hodez, F., Tronel, H., Nuel, G., Michel, F., Frémont, S., Méjean, L., Nicolas, J. P., Candito, M., Chambon, P., Gibelin, P., Amsellem, J., Baudouy, M., Morand, P., Candito, M., Chambon, P., Pringuey, D., Aubin-Brunet, V., Beaulieu, F., Darcourt, G., Bedoucha, P., Alchaar, H., Chatel, M., Candito, M., de Valk, H. W., van der Griend, R., Eeden, M. K. G. van, de Groot, E., Duran, M., Smeitink, J. A. M., de Klerk, J. B. C., Wittebol-Post, D., Rolland, M. -O., Haas, F. J. L. M., Meuwissen, O. J. A. Th., Banga, J. D., Poll-The, B. T., de Vries, J. I. P., Dekker, G. A., van Geijn, H. P., Huigens, P. C., Jakobs, C., von Blomberg, B. M. E., Deulofeu, R., Giralt, M., Aibar, C., Bauchet, C., Ballesta, A. M., Varela, G., Vila, N., Chamorro, A., Casals, F. J., Cremades, J. Diaz, Daly, L., Meleady, R., Graham, I., den Heijer, M., Brouwer, I. A., Gerrits, W. B. J., Bos, G. M. J., Blom, H. J., den Heijer, M., Bos, G. M. J., Koster, T., Vandenbroucke, J. P., Blom, H. J., Briët, E., Rosendaal, F. R., Fischer, G., Behrend, C., Bartholmes, P., Fermo, I., Paroni, R., Vigano, S., D’Angelo, A., Fermo, I., Paroni, R., Vigano, S., D’Angelo, A., Franken, D. G., Boers, G. H. J., Blom, H. J., Hamel, B. C. J., Franken, D. G., Boers, G. H. J., Blom, H. J., Ruijs, J. H. J., Franken, D. G., Blom, H. J., Boers, G. H. J., Tangerman, A., Guttormsen, A. B., Ueland, P. M., Refsum, H., Svarstad, E., Gao, W., Goldman, E., Jakubowski, H., Sebastio, G., Sperandeo, M. P., de Franchis, R., Andria, G., Garrow, T. A., Hladovec, J., Sommerova, Z., Písariková, A., Halsted, C. H., Villanueva, J., Chandler, C. J., Stabler, S. P., Allen, R. H., Muskhelishvili, L., James, S. J., Poirer, L., Jacobsen, D. W., Savon, S. R., DiCorleto, P. E., Jourdheuil-Rahmani, D., Rolland, P. H., Garçon, D., Joosten, E., Riezler, R., Allen, R., Joosten, E., Riezler, R., Allen, R., Marquardt, T., Ullrich, K., Harms, E., Koch, H. G., Koch, H. G., Evers, S., Grotemeyer, K. H., Vogelpohl, L., von Eckardstein, A., Ullrich, K., Deufel, T., Kraus, J., Harms, E., Kozich, V., Janosik, M., Sokolová, J., Bukovská, G., Kraus, J. P., Kluitmans, L. A. J., van den Heuvel, L. P., Stevens, E., Trubels, J. M. F., Blom, H. J., Boers, G. H. J., van Oost, B. A., Kraus, J. P., Kittner, S., Macko, R., Hebel, J. R., Rohr, J., Malinow, M. R., Upson, B., Buchholz, D., Earley, C., Johnson, C., Price, T. R., Rosario, J., Sloan, M., Stern, B., Wityk, R., Wozniak, M., Sherwin, R., Stolley, P., Kluijtmans, L., Heuvel, L. van den, Stevens, E., Trijbels, F., Blom, H., Boers, G., van Oost, B., den Heijer, M., Rozen, R., Löhrer, F., Angst, C., Fowler, B., Zaugg, M., Brunner, F., Haefeli, W. E., Nedrebø, B., Ericsson, U. -B., Ueland, P. M., Refsum, H., Lien, E. A., London, J., Paly, E., Paul, V., Paris, D., Kamoun, P., Chassé, J. F., Møller, J., Rasmussen, K., Meleady, R., Graham, I., Daly, L., Verhoef, P., Meleady, R., Graham, I., Daly, L., McMartin, K. E., Phifer, T. J., Alexander, J. S., Middlebrooks, M., Childress, L. E., Nicolas, J. P., Tronel, H., Chango, A., Fremont, S., Felden, F., Guerci, B., Creton, C., Drouin, P., Oakley, G. P., Elias, P. R. P., Hann, A. C., Curtis, C. G., Rose, F. A., Tudball, N., Parrot-Roulaud, F., Cochet, C., Catargi, B., Leprat, F., Latapie, J. -L., Perna, A. F., De Santo, N. G., Ingrosso, D., Galletti, P., Zappia, V., Parrot-Roulaud, F., Sassoust, G., Boissieras, P., Blom, H. J., Majors, A. K., Ehrhart, L. A., Pezacka, E. H., Perry, I. J., Morris, R. W., Ebrahim, S. B., Shaper, A. G., Refsum, H., Ueland, P. M., Pietrzik, K., Dierkes, J., Kroesen, M., Bung, P., Rasmussen, K., Moller, J., Rasmussen, K., Remacha, A., Garcia-Die, F., Cadafalch, J., Barceló, H. J., Parellada, H., Regland, B., Gottfries, C. -G., Andersson, M., Bagby, J., Dyrehag, L. -E., Abrahamsson, L., Ronge, E., Kjellman, B., Frosst, P., Christensen, B., Goyette, P., Rosenblatt, D. S., Genest, J., Rozen, R., Riedel, B., Ueland, P. M., Svardal, A. M., Silberberg, J., Crooks, R., Fryer, J., Ray, C., Guo, X. W., Xie, L., Dudman, N., Silberberg, J., Crooks, R., Fryer, J., Ray, C., Guo, X. W., Xie, L., Dudman, N., Silberberg, J., Crooks, R., Fryer, J., Ray, C., Guo, X., Xie, L., Dudman, N., Smith, B., Kohlman-Trigoboff, D., Simsir, S., Stabler, S. P., Allen, R. H., Strydom, A. J. C., Schlüssel, E., Preibisch, G., Elstner, E. F. E., Pütter, S., Spuijbroek, M. D. E. H., Goddijn-Wessel, T. A. W., Wouters, M. G. A. J., Molen, E. F. v. d., Blom, H. J., Boers, G. H. J., Steegers-Theunissen, R. P. M., Trijbels, J. M. F., Thomas, C. M. G., Eskes, T. K. A. B., Tsai, M. Y., Hanson, N., Key, N., Schwichtenberg, K., Garg, U., Todesco, L., Fowler, B., Pollaert, N., Haefeli, W. E., Thorand, B., Hages, M., Pietrzik, K., Bung, P., Holzgreve, W., Vila, N., Chamorro, A., Deulofeu, R., Aibar, C., Giralt, M., Ballesta, A. M., van der Mooren, M. J., Wouters, M. G. A. J., Schellekens, L. A., Eskes, T. K. A. B., Rolland, R., Blom, H. J., Put, N. v. d., Trijbels, F., Heuvel, L. v. d., Blom, H., Eskes, T., Steegers-Theunissen, R., Mariman, E., Heyer, M. d., Rozen, R., Daher, R., Van Lente, F., Vilkovsky, A. B., Maev, I. V., Richter, E. L., Kirnus, M. D., Varela-Moreiras, G., Alonso-Aperte, E., Rubio, M., Gassó, M., Deulofeu, R., Alvarez, L., Caballeria, J., Rodés, J., Mato, J. M., van Aerts, L. A. G. J. M., Peereboom-Stegeman, J. H. J. Copius, Noordhoek, J., Eskes, T. K. A. B., Molen, E. F. v. d., Spuijbroek, M. D. E. H., Eskes, T. K. A. B., Heuvel, L. P. v. d., Monnens, L. A. H., Blom, H. J., van Guidener, C., Janssen, M. J. F. M., Surachno, J., Stehouwer, C. D. A., van den Berg, M., Bierdrager, E., Rauwerda, J. A., Wilcken, B., Hammond, J., Wouters, M. G. A. J., Hamilton, C. J. C. M., Blom, H. J., Boers, G. H. J., Thomas, C. M. G., Borm, G. F., Eskes, T. K. A. B., Wang, H., Tsai, J. -C., Perrella, M. A., Yoshizumi, M., Sibinga, N. E. S., Haber, E., Chang, T. H. -T., Schlegel, R., Lee, M. -E., Woodside, J., McMaster, D., Yarnell, J., Young, I., Mercer, C., Byrne, K., Evans, A., Gey, F., Gao, X. M., Dougan, G., Wordsworth, P., McMichael, A., Young, P. B., Kennedy, D. G., Molloy, A. M., Scott, J. M., Ward, P., Naughten, E., Cahalane, S., Murphy, D., Mayne, P., Chauveau, P., Chadefaux-Vekemans, B., Coudé, M., Aupetit, J., Kamoun, P., Jungers, P., van Asselt, D. Z. B., Blom, H. J., de Wild, G. M., van Staveren, W. A., Hoefnagels, W. H. L., Naruszewicz, M., Staniewicz, A., Dziewanowski, K., Evrovski, J., Cole, D. E. C., Callaghan, Michael, Lindgren, A., Brattström, L., Hultberg, B., Verhoef, P., Hennekens, C. H., Allen, R. H., Stabler, S. P., Willett, W. C., Stampfer, M. J., Frantzen, F., Sundrehagen, E., Verhoef, P., Kok, F. J., Stampfer, M. J., Willett, W. C., Gaziano, J. M., Hennekens, C. H., Allen, R. H., Stabler, S. P., Reynolds, R. D., Hsu, R. -J., Shane, B., Robinson, K., Kottke-Marchant, K., Green, R., Gupta, A., Jacobsen, D., Robinson, K., Mayer, E., Gupta, A., Miller, D., Marchant, K., Green, R., Jacobsen, D., Greene, R., Chong, Y. -Y., Jacobsen, D., Robinson, K., Gupta, M., Sheppard, C. A., Matthews, R. G., Goyette, P., Frosst, P., Rozen, R., Verhoef, P., Kok, F. J., Kruyssen, H. A. C. M., Witteman, J. C. M., Ueland, P. M., Boushey, C., Beresford, S., Omenn, G., Motulsky, A. G., Nygard, O., Vollset, S. E., Kvale, G., Stensvold, I., Ueland, P. M., Refsum, H., Fiskerstrand, T., Ueland, P. M., Refsum, H., Bugge, K. H., Oshaug, A., Bjønnes, C. H., Refsum, H., Wu, J. T., Wu, L. L., and Wilson, L. W.

Published
1995
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19. Common variation in NCAN, a risk factor for bipolar disorder and schizophrenia, influences local cortical folding in schizophrenia

Author

Schultz, C. C., Mühleisen, T. W., Nenadic, I., Koch, K., Wagner, G., Schachtzabel, C., Siedek, F., Nöthen, M. M., Rietschel, M., Deufel, T., Kiehntopf, M., Cichon, S., Reichenbach, J. R., Sauer, H., Schlösser, R. G. M., Schultz, C. C., Mühleisen, T. W., Nenadic, I., Koch, K., Wagner, G., Schachtzabel, C., Siedek, F., Nöthen, M. M., Rietschel, M., Deufel, T., Kiehntopf, M., Cichon, S., Reichenbach, J. R., Sauer, H., and Schlösser, R. G. M.

Abstract

Background Recent studies have provided strong evidence that variation in the gene neurocan (NCAN, rs1064395) is a common risk factor for bipolar disorder (BD) and schizophrenia. However, the possible relevance of NCAN variation to disease mechanisms in the human brain has not yet been explored. Thus, to identify a putative pathomechanism, we tested whether the risk allele has an influence on cortical thickness and folding in a well-characterized sample of patients with schizophrenia and healthy controls. Method Sixty-three patients and 65 controls underwent T1-weighted magnetic resonance imaging (MRI) and were genotyped for the single nucleotide polymorphism (SNP) rs1064395. Folding and thickness were analysed on a node-by-node basis using a surface-based approach (FreeSurfer). Results In patients, NCAN risk status (defined by AA and AG carriers) was found to be associated with higher folding in the right lateral occipital region and at a trend level for the left dorsolateral prefrontal cortex. Controls did not show any association (p>0.05). For cortical thickness, there was no significant effect in either patients or controls. Conclusions This study is the first to describe an effect of the NCAN risk variant on brain structure. Our data show that the NCAN risk allele influences cortical folding in the occipital and prefrontal cortex, which may establish disease susceptibility during neurodevelopment. The findings suggest that NCAN is involved in visual processing and top-down cognitive functioning. Both major cognitive processes are known to be disturbed in schizophrenia. Moreover, our study reveals new evidence for a specific genetic influence on local cortical folding in schizophrenia

Published
2017

20. Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia†

Author

Urwyler, A., Deufel, T., McCarthy, T., West, S., Urwyler, A., Deufel, T., McCarthy, T., and West, S.

Abstract

Malignant hyperthermia (MH) is a potentially fatal pharmacogenetic disease triggered by several anaesthetic agents. The in vitro muscle contracture test (IVCT) is the standard test to establish an individual's risk of susceptibility to MH. Clinical practitioners and geneticists of the European MH Group have agreed on the present guidelines for the detection of MH susceptibility using molecular genetic techniques and/or IVCT to predict the risk of MH. Br J Anaesth 2001; 86: 283-7

Published
2017

35. [Study protocol of the VISEP study. Response of the SepNet study group]

Author

Reinhart, K, Brunkhorst, F M, Engel, C, Bloos, F, Meier-Hellmann, A, Ragaller, M, Weiler, N, Moerer, O, Gruendling, M, Oppert, M, Grond, S, Olthoff, D, Jaschinski, U, John, S, Rossaint, R, Welte, T, Schaefer, M, Kern, P, Kuhnt, E, Kiehntopf, M, Deufel, T, Hartog, C, Gerlach, H, Stüber, F, Volk, H-D, Quintel, M, and Loeffler, M

Abstract

In the commentary by Zander et al. the authors appear concerned about the methods and results of our, at that time, unpublished sepsis trial evaluating hydroxyethyl starch (HES) and insulin therapy. Unfortunately, the authors' concerns are based on false assumptions about the design, conduct and modes of action of the compounds under investigation. For instance, in our study the HES solution was not used for maintenance of daily fluid requirements, so that the assumption of the authors that this colloid was used "exclusively" is wrong. Moreover, the manufacturer of Hemohes, the HES product we used, gives no cut-off value for creatinine, thus the assumption that this cut-off value was "doubled" in our study is also incorrect. Other claims by the authors such as that lactated solutions cause elevated lactate levels, iatrogenic hyperglycemia and increase O(2) consumption are unfounded. There is no randomized controlled trial supporting such a claim - this claim is neither consistent with our study data nor with any credible published sepsis guidelines or with routine practice worldwide. We fully support open scientific debate. Our study methods and results have now been published after a strict peer-reviewing process and this data is now open to critical and constructive reviewing. However, in our opinion this premature action based on wrong assumptions and containing comments by representatives of pharmaceutical companies does not contribute to a serious, unbiased scientific discourse.

Published
2008

38. Kartierung eines neuen Genlocus auf Chromosom 13q34-qter bei autosomal dominanter nicht-syndromaler Hörstörung

Author

Bohlender, JE, Bönsch, D, Deufel, T, Lamprecht-Dinnesen, A, and Gross, M

Subjects
ddc: 610
Abstract

Bei einer großen Familie (MS-DFN 0001) mit nicht-syndromaler Hörstörung und autosomal-dominantem Erbgang wurde eine genetische Kopplungsanalyse durchgeführt. Dabei wurden alle bisher für diese Erkrankung bekannten autosomal dominanten Loci (DFNA 1-44) ausgeschlossen. Den höchsten 2-Punkt - Lod score erreichte dabei der Indexmarker D13S285 mit einem ermittelten Wert von 2.96. In der Folge wurde die kritische Region für den neuen Locus DFNA33 auf ein 6-cM großes Intervall auf Chromosom 13q34-qter eingegrenzt, sie enthält eine Reihe von plausiblen Kandidatengenen: SOX1, TFDP1und ATP4B. Letzteres Gen zeigt Verwandtschaft mit ATP2b2, ein analoges Gen der Maus bei einer murinen Hörstörung (dfw), und wird derzeit mit Vorrang untersucht.

Published
2003

39. Recurrent vomiting and ethylmalonic aciduria associated with rare mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene

Author

Seidel, J., Streck, S., Bellstedt, K., Vianey-Saban, C., Pedersen, Christina Bak, Vockley, J., Korall, H., Roskos, M., Deufel, T., Trefz, F.K., Sewell, A.C., Lehnert, W., and Gregersen, N.

Abstract

We report identification of short-chain acyl-CoA dehydrogenase (SCAD) deficiency in a 12-year-old boy who suffered from recurrent attacks of vomiting once or twice a year from infancy. Growth and development were normal and there were no muscular symptoms. Metabolic screening was performed during a hospitalization at 8 years of age and revealed an increased excretion of ethylmalonic acid (EMA; 45-80 mmol/mol creatinine, normal 0.2-6.6), suggesting a degradation defect of short-chain fatty acids. An increased n-butyrylcarnitine was found in freshly collected serum (0.9 micromol/L; normal A and 511C>T was present, but direct sequencing of the promoter and coding regions of the SCAD gene revealed that the patient had mutations on both alleles: 417G>C (Trpl15Cys) and 1095G>T (Gln341His). Neither mutation has been described before in compound heterozygosity or homozygosity. Enzymatic investigations subsequently confirmed a defect of SCAD in both fibroblasts and muscle extracts. Furthermore, expression studies of both mutations demonstrated impaired enzyme function or structure. To our knowledge, this case is the first description of a patient with proven SCAD deficiency presenting with recurrent emesis but without other symptoms, and emphasizes the wide clinical phenotype of this disorder.

Published
2003

40. REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

Author

Beetz, C., Schule, R., Deconinck, T., Tran-Viet, K.N., Zhu, H., Kremer, H.P.H., Frints, S.G., Zelst-Stams, W.A.G. van, Byrne, P., Otto, S., Nygren, A.O., Baets, J., Smets, K., Ceulemans, B., Dan, B., Nagan, N., Kassubek, J., Klimpe, S., Klopstock, T., Stolze, H., Smeets, H.J.M., Schrander-Stumpel, C.T.R.M., Hutchinson, M., Warrenburg, B.P.C. van de, Braastad, C., Deufel, T., Pericak-Vance, M., Schols, L., Jonghe, P. de, Zuchner, S., Beetz, C., Schule, R., Deconinck, T., Tran-Viet, K.N., Zhu, H., Kremer, H.P.H., Frints, S.G., Zelst-Stams, W.A.G. van, Byrne, P., Otto, S., Nygren, A.O., Baets, J., Smets, K., Ceulemans, B., Dan, B., Nagan, N., Kassubek, J., Klimpe, S., Klopstock, T., Stolze, H., Smeets, H.J.M., Schrander-Stumpel, C.T.R.M., Hutchinson, M., Warrenburg, B.P.C. van de, Braastad, C., Deufel, T., Pericak-Vance, M., Schols, L., Jonghe, P. de, and Zuchner, S.

Abstract

Contains fulltext : 71291.pdf (publisher's version ) (Closed access), Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31. In a large collaborative effort, we screened a sample of 535 unrelated HSP patients for REEP1 mutations and copy number variations. We identified 13 novel and 2 known REEP1 mutations in 16 familial and sporadic patients by direct sequencing analysis. Twelve out of 16 mutations were small insertions, deletions or splice site mutations. These changes would result in shifts of the open-reading-frame followed by premature termination of translation and haploinsufficiency. Interestingly, we identified two disease associated variations in the 3'-UTR of REEP1 that fell into highly conserved micro RNA binding sites. Copy number variation analysis in a subset of 133 HSP index patients revealed a large duplication of REEP1 that involved exons 2-7 in an Irish family. Clinically most SPG31 patients present with a pure spastic paraplegia; rare complicating features were restricted to symptoms or signs of peripheral nerve involvement. Interestingly, the distribution of age at onset suggested a bimodal pattern with the appearance of initial symptoms of disease either before the age of 20 years or after the age of 30 years. The overall mutation rate in our clinically heterogeneous sample was 3.0%; however, in the sub-sample of pure HSP REEP1 mutations accounted for 8.2% of all patients. These results firmly establish REEP1 as a relatively frequent autosomal dominant HSP gene for which genetic testing is warranted. We also establish haploinsufficiency as the main molecular genetic mechanism in SPG31, which should initiate and guide functional studies on REEP1 with a focus on loss-of-function mechanisms. Our results should be valid as a reference for mutation frequency, spectrum of REEP1 mutations, and clinical phenotypes associated with SPG31.

Published
2008

41. Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots.

Author

Beetz, C., Schule, R., Klebe, S., Klimpe, S., Klopstock, T., Lacour, A., Otto, S., Sperfeld, A.D., Warrenburg, B.P.C. van de, Schols, L., Deufel, T., Beetz, C., Schule, R., Klebe, S., Klimpe, S., Klopstock, T., Lacour, A., Otto, S., Sperfeld, A.D., Warrenburg, B.P.C. van de, Schols, L., and Deufel, T.

Abstract

Item does not contain fulltext, Mutations in NIPA1 cause hereditary spastic paraplegia type 6 (SPG6 HSP). Sequencing of the whole gene has revealed alterations of either of two nucleotides in eight of nine SPG6 HSP families reported to date. By analysing CpG methylation, we provide a mechanistic explanation for a mutational hotspot to underlie frequent alteration of one of these nucleotides. We also developed PCR RFLP assays to detect recurrent NIPA1 changes and screened 101 independent HSP patients, including 45 index patients of autosomal dominant HSP families. Our negative finding in this cohort for which several other causes of HSP had been excluded suggests NIPA1 alterations at mutational hotspots to be less frequent than previously thought. Nevertheless, the assays introduced represent a valid pre-screen easily implementable in the molecular diagnosis of HSP.

Published
2008

43. Common variation inNCAN, a risk factor for bipolar disorder and schizophrenia, influences local cortical folding in schizophrenia

Author

Schultz, C. C., primary, Mühleisen, T. W., additional, Nenadic, I., additional, Koch, K., additional, Wagner, G., additional, Schachtzabel, C., additional, Siedek, F., additional, Nöthen, M. M., additional, Rietschel, M., additional, Deufel, T., additional, Kiehntopf, M., additional, Cichon, S., additional, Reichenbach, J. R., additional, Sauer, H., additional, and Schlösser, R. G. M., additional

Published
2013
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45. Discordance, in a Malignant Hyperthermia Pedigree, between in Vitro Contracture-Test Phenotypes and Haplotypes for the MHS1 Region on Chromosome 19q12–13.2, Comprising the C1840T Transition in the RYR1 Gene

Author

Deufel, T., Sudbrak, R., Feist, Y., Rübsam, B., Chesne, I. Du, Schäfer, K.-L., Roewer, N., Grimm, T., Lehmann-Horn, F., Hartung, E. J., and Müller, C. R.

Subjects
Genetic Markers, Male, Contracture, Models, Genetic, Genetic Linkage, Ryanodine, Muscle Proteins, Ryanodine Receptor Calcium Release Channel, Original Articles, musculoskeletal system, Pedigree, Phenotype, Haplotypes, Germany, Humans, Female, Calcium Channels, Disease Susceptibility, Halothane, Malignant Hyperthermia, tissues, Chromosomes, Human, Pair 19
Abstract

A point mutation in the gene encoding the skeletal muscle calcium release channel (RYR1) has been proposed as the probable cause of malignant hyperthermia (MH) in swine, where it segregates with the disease in all MH-prone strains investigated. The same C-to-T exchange in nucleotide position 1840 of the human RYR1 cDNA sequence was found in a few human MH pedigrees. We report a German MH pedigree where in vitro contracture test (IVCT) results and haplotypes of markers for the MHS1/RYR1 region including this base transition have yielded several discrepancies. The MH-susceptible phenotype was defined by IVCT performed according to the European standard protocol. Haplotypes were constructed for markers for the MHS1/RYR1 region on chromosome 19 and include the C1840T base exchange. Discussing the probabilities for a number of hypotheses to explain these data, we suggest that our results may challenge the causative role of this mutation--and possibly the role of the RYR1 gene itself--in human MH susceptibility, at least in some cases.

Published
1995

46. Mapping of a Further Malignant Hyperthermia Susceptibility Locus to Chromosome 3q13.1

Author

Sudbrak, R., Procaccio, V., Klausnitzer, M., Curran, J. L., Koenraad Monsieurs, Vanbroeckhoven, C., Ellis, R., Heyetens, L., Hartung, E. J., Kozakribbens, G., Heilinger, D., Weissenbach, J., Lehmanhorn, F., Mueller, C. R., Deufel, T., Stewart, A. D., and Lunardi, J.

Subjects
Male, Base Sequence, Genetic Linkage, Molecular Sequence Data, Chromosome Mapping, Humans, Female, Genetic Predisposition to Disease, Original Articles, Chromosomes, Human, Pair 3, DNA, Satellite, Malignant Hyperthermia, Pedigree
Abstract

Malignant hyperthermia (MH) is a potentially lethal pharmacogenetic disease for which MH susceptibility (MHS) is transmitted as an autosomal dominant trait. A potentially life-threatening MH crisis is triggered by exposure to commonly used inhalational anesthetics and depolarizing muscle relaxants. The first malignant hyperthermia susceptibility locus (MHS1) was identified on human chromosome 19q13.1, and evidence has been obtained that defects in the gene for the calcium-release channel of skeletal muscle sarcoplasmic reticulum (ryanodine receptor; RYR1) can cause some forms of MH. However, MH has been shown to be genetically heterogeneous, and additional loci on chromosomes 17q and 7q have been suggested. In a collaborative search of the human genome with polymorphic microsatellite markers, we now found linkage of the MHS phenotype, as assessed by the European in vitro contracture test protocol, to markers defining a 1-cM interval on chromosome 3q13.1. A maximum multipoint lod score of 3.22 was obtained in a single German pedigree with classical MH, and none of the other pedigrees investigated in this study showed linkage to this region. Linkage to both MHS1/RYR1 and putative loci on chromosome 17q and 7q were excluded. This study supports the view that considerable genetic heterogeneity exists in MH.

Published
1995

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