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1. The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency

Author

Stepien, Karolina M., Wierzbicki, Anthony S., Poll-The, Bwee T., Waterham, Hans R., Hendriksz, Christian J., Baumgartner, Matthias R., Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, Zschocke, Johannes, Series editor, and Baumgartner, Matthias, editor

Published
2017
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5. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Author

Leen, Wilhelmina G., Klepper, Joerg, Verbeek, Marcel M., Leferink, Maike, Hofste, Tom, van Engelen, Baziel G., Wevers, Ron A., Arthur, Todd, Bahi-Buisson, Nadia, Ballhausen, Diana, Bekhof, Jolita, van Bogaert, Patrick, Carrilho, Inês, Chabrol, Brigitte, Champion, Michael P., Coldwell, James, Clayton, Peter, Donner, Elizabeth, Evangeliou, Athanasios, Ebinger, Friedrich, Farrell, Kevin, Forsyth, Rob J., de Goede, Christian G., Gross, Stephanie, Grunewald, Stephanie, Holthausen, Hans, Jayawant, Sandeep, Lachlan, Katherine, Laugel, Vincent, Leppig, Kathy, Lim, Ming J., Mancini, Grazia, Marina, Adela Della, Martorell, Loreto, McMenamin, Joe, Meuwissen, Marije E., Mundy, Helen, Nilsson, Nils O., Panzer, Axel, Poll-The, Bwee T., Rauscher, Christian, Rouselle, Christophe M., Sandvig, Inger, Scheffner, Thomas, Sheridan, Eamonn, Simpson, Neil, Sykora, Parol, Tomlinson, Richard, Trounce, John, Webb, David, Weschke, Bernhard, Scheffer, Hans, and Willemsen, Michél A.

Published
2010
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6. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Author

Leen, Wilhelmina G., Klepper, Joerg, Verbeek, Marcel M., Leferink, Maike, Hofste, Tom, van Engelen, Baziel G., Wevers, Ron A., Arthur, Todd, Bahi-Buisson, Nadia, Ballhausen, Diana, Bekhof, Jolita, van Bogaert, Patrick, Carrilho, Inês, Chabrol, Brigitte, Champion, Michael P., Coldwell, James, Clayton, Peter, Donner, Elizabeth, Evangeliou, Athanasios, Ebinger, Friedrich, Farrell, Kevin, Forsyth, Rob J., de Goede, Christian G. E. L., Gross, Stephanie, Grunewald, Stephanie, Holthausen, Hans, Jayawant, Sandeep, Lachlan, Katherine, Laugel, Vincent, Leppig, Kathy, Lim, Ming J., Mancini, Grazia, Marina, Adela Della, Martorell, Loreto, McMenamin, Joe, Meuwissen, Marije E. C., Mundy, Helen, Nilsson, Nils O., Panzer, Axel, Poll-The, Bwee T., Rauscher, Christian, Rouselle, Christophe M. R., Sandvig, Inger, Scheffner, Thomas, Sheridan, Eamonn, Simpson, Neil, Sykora, Parol, Tomlinson, Richard, Trounce, John, Webb, David, Weschke, Bernhard, Scheffer, Hans, Willemsen, Michél A., Leen, Wilhelmina G., Klepper, Joerg, Verbeek, Marcel M., Leferink, Maike, Hofste, Tom, van Engelen, Baziel G., Wevers, Ron A., Arthur, Todd, Bahi-Buisson, Nadia, Ballhausen, Diana, Bekhof, Jolita, van Bogaert, Patrick, Carrilho, Inês, Chabrol, Brigitte, Champion, Michael P., Coldwell, James, Clayton, Peter, Donner, Elizabeth, Evangeliou, Athanasios, Ebinger, Friedrich, Farrell, Kevin, Forsyth, Rob J., de Goede, Christian G. E. L., Gross, Stephanie, Grunewald, Stephanie, Holthausen, Hans, Jayawant, Sandeep, Lachlan, Katherine, Laugel, Vincent, Leppig, Kathy, Lim, Ming J., Mancini, Grazia, Marina, Adela Della, Martorell, Loreto, McMenamin, Joe, Meuwissen, Marije E. C., Mundy, Helen, Nilsson, Nils O., Panzer, Axel, Poll-The, Bwee T., Rauscher, Christian, Rouselle, Christophe M. R., Sandvig, Inger, Scheffner, Thomas, Sheridan, Eamonn, Simpson, Neil, Sykora, Parol, Tomlinson, Richard, Trounce, John, Webb, David, Weschke, Bernhard, Scheffer, Hans, and Willemsen, Michél A.

Abstract

Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification. Mutations in the SLC2A1 gene were detected in 54 patients (41%) and subsequently in three clinically affected family members. In these 57 patients we identified 49 different mutations, including six multiple exon deletions, six known mutations and 37 novel mutations (13 missense, five nonsense, 13 frame shift, four splice site and two translation initiation mutations). Clinical data were retrospectively collected from referring physicians by means of a questionnaire. Three different phenotypes were recognized: (i) the classical phenotype (84%), subdivided into early-onset (<2 years) (65%) and late-onset (18%); (ii) a non-classical phenotype, with mental retardation and movement disorder, without epilepsy (15%); and (iii) one adult case of glucose transporter-1 deficiency syndrome with minimal symptoms. Recognizing glucose transporter-1 deficiency syndrome is important, since a ketogenic diet was effective in most of the patients with epilepsy (86%) and also reduced movement disorders in 48% of the patients with a classical phenotype and 71% of the patients with a non-classical phenotype. The average delay in diagnosing classical glucose transporter-1 deficiency syndrome was 6.6 years (range 1 month-16 years). Cerebrospinal fluid glucose was below 2.5 mmol/l (range 0.9-2.4 mmol/l) in all patients and cerebrospinal fluid : blood glucose ratio was below 0.50 in all but one patient (range 0.19-0.52). Cerebrospinal fluid lactate was low to normal in all patients. Our relatively large series of 57 patients with glucose transporter-1 deficiency syndrome allowed us to identify correlations between genotype, phenotype and biochemical data. T

Published
2017

7. Diffuse hypomyelination is not obligate for POLR3-related disorders

Author

La Piana, Roberta, primary, Cayami, Ferdy K., additional, Tran, Luan T., additional, Guerrero, Kether, additional, van Spaendonk, Rosalina, additional, Õunap, Katrin, additional, Pajusalu, Sander, additional, Haack, Tobias, additional, Wassmer, Evangeline, additional, Timmann, Dagmar, additional, Mierzewska, Hanna, additional, Poll-Thé, Bwee T., additional, Patel, Chirag, additional, Cox, Helen, additional, Atik, Tahir, additional, Onay, Huseyin, additional, Ozkınay, Ferda, additional, Vanderver, Adeline, additional, van der Knaap, Marjo S., additional, Wolf, Nicole I., additional, and Bernard, Geneviève, additional

Published
2016
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8. Peroxisomal biogenesis disorder: comparison of conventional MR imaging with diffusion-weighted and diffusion-tensor imaging findings

Author

ter Rahe, Birgitta S. M., Majoie, Charles B. L. M., Akkerman, Erik M., den Heeten, Gerard J., Poll-The, Bwee T., Barth, Peter G., Amsterdam Cardiovascular Sciences, Amsterdam Neuroscience, Radiology and Nuclear Medicine, Amsterdam Gastroenterology Endocrinology Metabolism, Paediatric Metabolic Diseases, Paediatric Neurology, and Neurology

Subjects
Male, Peroxisomal Disorders, Humans, Infant, Female, Child, Pediatrics, Magnetic Resonance Imaging
Abstract

BACKGROUND AND PURPOSE: Peroxisomal biogenesis disorders (PBDs) refer to a group of disorders of peroxisomal biogenesis causing neuronal migration disorder, delayed myelination, and demyelination. The aim of this study was to evaluate the added value of diffusion-weighted imaging (DWI) and diffusion tensor imaging (DTI) compared with that of conventional T2-weighted imaging in assessing the extent of white matter damage in patients with PBDs. METHODS: Three patients (aged 12, 16, and 80 months) with PBD (type 1 protein targeting sequence [PTS1]) and three age-matched control subjects underwent MR imaging on a 1.5-T system. The protocol included axial T2-weighted, DWI, and DTI sequences. Fractional anisotropy (FA) and apparent diffusion coefficient (ADC) changes were calculated using regions of interest at several predefined white matter areas and compared with those of age-matched control subjects. Color-coded maps were obtained to visualize the range of FA values. RESULTS: On the T2-weighted images, one patient revealed severe hypomyelination throughout the brain; the two other patients showed focal abnormal high-signal-intensity areas. All patients had significantly decreased FA values in white matter areas that appeared abnormal on the T2-weighted images. In two of the three patients, significant FA reduction was also found in normal-appearing white matter. The ADC values of the patients were significantly increased compared with those of the age-matched controls. CONCLUSION: Although based on a small number of patients, our data suggest that DWI and DTI can be used to characterize and quantify white matter tract injury in patients with PBD-PTS1. Furthermore, our data suggest that these techniques have the potential to identify neurodegenerative changes not yet visible on T2-weighted images.

Published
2004

9. Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy

Author

Engelen, Marc, primary, Barbier, Mathieu, additional, Dijkstra, Inge M. E., additional, Schür, Remmelt, additional, de Bie, Rob M., additional, Verhamme, Camiel, additional, Dijkgraaf, Marcel G. W., additional, Aubourg, Patrick A., additional, Wanders, Ronald J. A., additional, van Geel, Bjorn M., additional, de Visser, Marianne, additional, Poll–The, Bwee T., additional, and Kemp, Stephan, additional

Published
2014
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10. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

Author

Leen, Wilhelmina G, Klepper, Joerg, Verbeek, Marcel M, Leferink, Maike, Hofste, Tom, van Engelen, Baziel G, Wevers, Ron A, Arthur, Todd, Bahi-Buisson, Nadia, Ballhausen, Diana, Bekhof, Jolita, Van Bogaert, Patrick, Carrilho, Inês, Chabrol, Brigitte, Champion, Michael P, Coldwell, James, Clayton, Peter, Donner, Elizabeth, Evangeliou, Athanasios, Ebinger, Friedrich, Farrell, Kevin, Forsyth, Rob J, de Goede, Christian G E L, Gross, Stephanie, Grunewald, Stephanie, Holthausen, Hans, Jayawant, Sandeep, Lachlan, Katherine, Laugel, Vincent, Leppig, Kathy, Lim, Ming J, Mancini, Grazia, Marina, Adela Della, Martorell, Loreto, McMenamin, Joe, Meuwissen, Marije E C, Mundy, Helen, Nilsson, Nils O, Panzer, Axel, Poll-The, Bwee T, Rauscher, Christian, Rouselle, Christophe M R, Sandvig, Inger, Scheffner, Thomas, Sheridan, Eamonn, Simpson, Neil, Sykora, Parol, Tomlinson, Richard, Trounce, John, Webb, David, Weschke, Bernhard, Scheffer, Hans, Willemsen, Michél A, Leen, Wilhelmina G, Klepper, Joerg, Verbeek, Marcel M, Leferink, Maike, Hofste, Tom, van Engelen, Baziel G, Wevers, Ron A, Arthur, Todd, Bahi-Buisson, Nadia, Ballhausen, Diana, Bekhof, Jolita, Van Bogaert, Patrick, Carrilho, Inês, Chabrol, Brigitte, Champion, Michael P, Coldwell, James, Clayton, Peter, Donner, Elizabeth, Evangeliou, Athanasios, Ebinger, Friedrich, Farrell, Kevin, Forsyth, Rob J, de Goede, Christian G E L, Gross, Stephanie, Grunewald, Stephanie, Holthausen, Hans, Jayawant, Sandeep, Lachlan, Katherine, Laugel, Vincent, Leppig, Kathy, Lim, Ming J, Mancini, Grazia, Marina, Adela Della, Martorell, Loreto, McMenamin, Joe, Meuwissen, Marije E C, Mundy, Helen, Nilsson, Nils O, Panzer, Axel, Poll-The, Bwee T, Rauscher, Christian, Rouselle, Christophe M R, Sandvig, Inger, Scheffner, Thomas, Sheridan, Eamonn, Simpson, Neil, Sykora, Parol, Tomlinson, Richard, Trounce, John, Webb, David, Weschke, Bernhard, Scheffer, Hans, and Willemsen, Michél A

Abstract

Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification. Mutations in the SLC2A1 gene were detected in 54 patients (41%) and subsequently in three clinically affected family members. In these 57 patients we identified 49 different mutations, including six multiple exon deletions, six known mutations and 37 novel mutations (13 missense, five nonsense, 13 frame shift, four splice site and two translation initiation mutations). Clinical data were retrospectively collected from referring physicians by means of a questionnaire. Three different phenotypes were recognized: (i) the classical phenotype (84%), subdivided into early-onset (<2 years) (65%) and late-onset (18%); (ii) a non-classical phenotype, with mental retardation and movement disorder, without epilepsy (15%); and (iii) one adult case of glucose transporter-1 deficiency syndrome with minimal symptoms. Recognizing glucose transporter-1 deficiency syndrome is important, since a ketogenic diet was effective in most of the patients with epilepsy (86%) and also reduced movement disorders in 48% of the patients with a classical phenotype and 71% of the patients with a non-classical phenotype. The average delay in diagnosing classical glucose transporter-1 deficiency syndrome was 6.6 years (range 1 month-16 years). Cerebrospinal fluid glucose was below 2.5 mmol/l (range 0.9-2.4 mmol/l) in all patients and cerebrospinal fluid :blood glucose ratio was below 0.50 in all but one patient (range 0.19-0.52). Cerebrospinal fluid lactate was low to normal in all patients. Our relatively large series of 57 patients with glucose transporter-1 deficiency syndrome allowed us to identify correlations between genotype, phenotype and biochemical data. Ty, JOURNAL ARTICLE, SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2010

12. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Author

Leen, Wilhelmina G., Klepper, Joerg, Verbeek, Marcel M., Leferink, Maike, Hofste, Tom, van Engelen, Baziel G., Wevers, Ron A., Arthur, Todd, Bahi-Buisson, Nadia, Ballhausen, Diana, Bekhof, Jolita, van Bogaert, Patrick, Carrilho, Inês, Chabrol, Brigitte, Champion, Michael P., Coldwell, James, Clayton, Peter, Donner, Elizabeth, Evangeliou, Athanasios, Ebinger, Friedrich, Farrell, Kevin, Forsyth, Rob J., de Goede, Christian G. E. L., Gross, Stephanie, Grunewald, Stephanie, Holthausen, Hans, Jayawant, Sandeep, Lachlan, Katherine, Laugel, Vincent, Leppig, Kathy, Lim, Ming J., Mancini, Grazia, Marina, Adela Della, Martorell, Loreto, McMenamin, Joe, Meuwissen, Marije E. C., Mundy, Helen, Nilsson, Nils O., Panzer, Axel, Poll-The, Bwee T., Rauscher, Christian, Rouselle, Christophe M. R., Sandvig, Inger, Scheffner, Thomas, Sheridan, Eamonn, Simpson, Neil, Sykora, Parol, Tomlinson, Richard, Trounce, John, Webb, David, Weschke, Bernhard, Scheffer, Hans, Willemsen, Michél A., Leen, Wilhelmina G., Klepper, Joerg, Verbeek, Marcel M., Leferink, Maike, Hofste, Tom, van Engelen, Baziel G., Wevers, Ron A., Arthur, Todd, Bahi-Buisson, Nadia, Ballhausen, Diana, Bekhof, Jolita, van Bogaert, Patrick, Carrilho, Inês, Chabrol, Brigitte, Champion, Michael P., Coldwell, James, Clayton, Peter, Donner, Elizabeth, Evangeliou, Athanasios, Ebinger, Friedrich, Farrell, Kevin, Forsyth, Rob J., de Goede, Christian G. E. L., Gross, Stephanie, Grunewald, Stephanie, Holthausen, Hans, Jayawant, Sandeep, Lachlan, Katherine, Laugel, Vincent, Leppig, Kathy, Lim, Ming J., Mancini, Grazia, Marina, Adela Della, Martorell, Loreto, McMenamin, Joe, Meuwissen, Marije E. C., Mundy, Helen, Nilsson, Nils O., Panzer, Axel, Poll-The, Bwee T., Rauscher, Christian, Rouselle, Christophe M. R., Sandvig, Inger, Scheffner, Thomas, Sheridan, Eamonn, Simpson, Neil, Sykora, Parol, Tomlinson, Richard, Trounce, John, Webb, David, Weschke, Bernhard, Scheffer, Hans, and Willemsen, Michél A.

Abstract

Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification. Mutations in the SLC2A1 gene were detected in 54 patients (41%) and subsequently in three clinically affected family members. In these 57 patients we identified 49 different mutations, including six multiple exon deletions, six known mutations and 37 novel mutations (13 missense, five nonsense, 13 frame shift, four splice site and two translation initiation mutations). Clinical data were retrospectively collected from referring physicians by means of a questionnaire. Three different phenotypes were recognized: (i) the classical phenotype (84%), subdivided into early-onset (<2 years) (65%) and late-onset (18%); (ii) a non-classical phenotype, with mental retardation and movement disorder, without epilepsy (15%); and (iii) one adult case of glucose transporter-1 deficiency syndrome with minimal symptoms. Recognizing glucose transporter-1 deficiency syndrome is important, since a ketogenic diet was effective in most of the patients with epilepsy (86%) and also reduced movement disorders in 48% of the patients with a classical phenotype and 71% of the patients with a non-classical phenotype. The average delay in diagnosing classical glucose transporter-1 deficiency syndrome was 6.6 years (range 1 month-16 years). Cerebrospinal fluid glucose was below 2.5 mmol/l (range 0.9-2.4 mmol/l) in all patients and cerebrospinal fluid : blood glucose ratio was below 0.50 in all but one patient (range 0.19-0.52). Cerebrospinal fluid lactate was low to normal in all patients. Our relatively large series of 57 patients with glucose transporter-1 deficiency syndrome allowed us to identify correlations between genotype, phenotype and biochemical data. T

14. Pontocerebellar hypoplasia: Genes and phenotypes

Author

van Dijk, Tessa, Baas, F., Poll-The, B-T., Meijers-Heijboer, E.J., Faculteit der Geneeskunde, Baas, Frank, Poll-The, Bwee T., Meijers-Heijboer, Elizabeth J., Amsterdam Neuroscience, Amsterdam Reproduction & Development, Graduate School, AGEM - Inborn errors of metabolism, and Amsterdam Neuroscience - Cellular & Molecular Mechanisms

Abstract

Pontocerebellar Hypoplasia (PCH) is a rare heterogeneous group of neurodegenerative disorders, often with a prenatal onset. Patients have severe hypoplasia or atrophy of cerebellum and pons, with variable involvement of supratentorial structures. Although clinical and neuroradiological features are variable, most patients suffer from severe motor and cognitive impairments. PCH often leads to death during infancy. Based on distinct clinical features and genetic causes, current classification comprises eleven types of PCH. This thesis focuses on the identification of novel disease genes and the description of new phenotype-genotype correlations in PCH. In addition, the neuroradiological features of the most frequent subtypes of PCH (PCH1B/PCH2A) are studied in detail. The expression patterns of the PCH related genes in the developing and adult brain will be shortly discussed in an effort to explain the specific cerebellar involvement in PCH. Finally, the clinical applicability of the ever expanding PCH classification, which now includes a large variety of phenotypes, will be considered.

Published
2018

18. Translational studies in Zellweger spectrum disorders

Author

Berendse, K., Poll-The, Bwee T., Wanders, Ronaldus J. A., Other departments, Poll-The, B-T., Wanders, R.J.A., Engelen, M., Waterham, H.R., and Faculteit der Geneeskunde

Abstract

Zellweger spectrum disorders (ZSDs) are inherited metabolic diseases characterized by a (partial) deficiency of peroxisomal function, leading to accumulation of several toxic metabolites in organs and blood. Currently, there is no curative therapy for the diseases and intervention is supportive and based on symptoms. In this thesis we have studied the effect of a possible novel therapy, arginine, in skin fibroblasts of mildly affected ZSD patients. Supplementing arginine to the culture medium of these skin fibroblasts resulted in an increase in the amount of peroxisomes as well as peroxisomal functions. Moreover the effect of cholic acid was studied for the first time in a large cohort of patients. We have demonstrated that cholic acid lowers the concentration of specific toxic metabolites in plasma in the majority of the patients. We also generated a new mouse model for the disease, which resembles the relatively milder human phenotype. In the near future, this model can be used to study disease pathogenesis at the organ level and test future therapies. Research in this thesis emphasizes that ZSDs should no longer be considered solely as paediatric diseases, but rather as slowly progressive diseases with patients surviving into adulthood, presenting with age specific (neurological) symptoms as described in our cohort study.

Published
2016

20. Translational studies in X-linked adrenoleukodystrophy

Author

Engelen, Marc, Poll-The, B-T., Visser, M., Kemp, S., van Geel, B.M., Faculteit der Geneeskunde, Poll-The, Bwee T., de Visser, Marianne, Kemp, Stephan, van Geel, B. M., Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Neuroscience, and Neurology

Abstract

De stofwisselingsziekte X-gebonden adrenoleukodystrofie (X-ALD) wordt gekenmerkt door gestoorde afbraak van zeer lange-keten vetzuren (ZLKV). Marc Engelen onderzocht mogelijk nieuwe medicijnen. Engelen concentreerde zich op twee stoffen: bezafibraat (dat de hoeveelheid vet in het bloed vermindert) en lovastine (een cholesterolverlagend medicijn). Bezafibraat leek veelbelovend, maar blijkt de concentratie ZLKV niet omlaag te kunnen brengen bij de mens, omdat zelfs bij de maximaal toegestane dosis de benodigde concentratie in plasma niet wordt bereikt. Lange tijd werden vrouwen met X-ALD beschouwd als draagsters, niet als patiënten. Een groot deel van de draagsters boven de 60 jaar ontwikkelt echter neurologische klachten en/of symptomen, zo blijkt uit een cohortstudie.

Published
2012

21. Pontocerebellar hypoplasia: from gene to disease

Author

Namavar, Yasmin, Baas, F., Poll-The, B-T., Barth, P.G., Faculteit der Geneeskunde, Baas, Frank, Poll-The, Bwee T., Barth, P. G., and Genome Analysis

Abstract

Pontocerebellaire hypoplasie (PCH) is een recessief erfelijke hersenziekte. De ziekte begint al tijdens de zwangerschap begint met een groeistoornis van de kleine hersenen (cerebellum), en later ook van de grote hersenen. Er zijn meerdere subtypen bekend. Kinderen met PCH2, de meest voorkomende vorm, ontwikkelen vrijwel geen cognitieve functies en hebben onder meer slikstoornissen en hevige bewegingsonrust (chorea). Yasmin Namavar toonde aan welke drie mutaties verantwoordelijk zijn voor het ontstaan van PCH. Dit maakt genetische counseling en prenatale diagnostiek mogelijk. Ook bootste zij in een zebravismodel voor PCH de ziekte na, wat meer inzicht geeft in het ontstaansmechanisme van PCH.

Published
2011

22. Peroxisomal biogenesis disorder: comparison of conventional MR imaging with diffusion-weighted and diffusion-tensor imaging findings.

Author

ter Rahe BS, Majoie CB, Akkerman EM, den Heeten GJ, Poll-The BT, and Barth PG

Subjects
Child, Female, Humans, Infant, Male, Magnetic Resonance Imaging, Peroxisomal Disorders diagnosis
Abstract

Background and Purpose: Peroxisomal biogenesis disorders (PBDs) refer to a group of disorders of peroxisomal biogenesis causing neuronal migration disorder, delayed myelination, and demyelination. The aim of this study was to evaluate the added value of diffusion-weighted imaging (DWI) and diffusion tensor imaging (DTI) compared with that of conventional T2-weighted imaging in assessing the extent of white matter damage in patients with PBDs., Methods: Three patients (aged 12, 16, and 80 months) with PBD (type 1 protein targeting sequence [PTS1]) and three age-matched control subjects underwent MR imaging on a 1.5-T system. The protocol included axial T2-weighted, DWI, and DTI sequences. Fractional anisotropy (FA) and apparent diffusion coefficient (ADC) changes were calculated using regions of interest at several predefined white matter areas and compared with those of age-matched control subjects. Color-coded maps were obtained to visualize the range of FA values., Results: On the T2-weighted images, one patient revealed severe hypomyelination throughout the brain; the two other patients showed focal abnormal high-signal-intensity areas. All patients had significantly decreased FA values in white matter areas that appeared abnormal on the T2-weighted images. In two of the three patients, significant FA reduction was also found in normal-appearing white matter. The ADC values of the patients were significantly increased compared with those of the age-matched controls., Conclusion: Although based on a small number of patients, our data suggest that DWI and DTI can be used to characterize and quantify white matter tract injury in patients with PBD-PTS1. Furthermore, our data suggest that these techniques have the potential to identify neurodegenerative changes not yet visible on T2-weighted images.

Published
2004

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