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Your search keyword '"Kotschet, Katya E."' showing total 9 results
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9 results on '"Kotschet, Katya E."'

1. A blinded, controlled trial of objective measurement in Parkinson's disease.

Author

Woodrow, Holly, Horne, Malcolm K., Fernando, Chathurini V., Kotschet, Katya E., Treat to Target Study Group, Bhattacharya, Arup, Blaze, Richard, Charmley, Andrew, Cruse, Belinda, Duma, Stephen, Evans, Andrew, Ghaly, Mina, Giarola, Blake, Halliday, Amy J., Kimber, Thomas, Kumar, Anand, Lehn, Alexander, Lilley, Kate, Ma, Andrew, and Mahant, Neil

Published
2020
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3. Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Author

Stam, Anine H, Kothari, Parul H, Shaikh, Aisha, Gschwendter, Andreas, Jen, Joanna C, Hodgkinson, Suzanne, Hardy, Todd A, Hayes, Michael, Kempster, Peter A, Kotschet, Katya E, Bajema, Ingeborg M, van Duinen, Sjoerd G, Maat-Schieman, Marion L C, de Jong, Paulus T V M, de Smet, Marc D, de Wolff-Rouendaal, Didi, Dijkman, Greet, Pelzer, Nadine, Kolar, Grant R, Schmidt, Robert E, Lacey, JoAnne, Joseph, Daniel, Fintak, David R, Grand, M Gilbert, Brunt, Elizabeth M, Liapis, Helen, Hajj-Ali, Rula A, Kruit, Mark C, van Buchem, Mark A, Dichgans, Martin, Frants, Rune R, van den Maagdenberg, Arn M J M, Haan, Joost, Baloh, Robert W, Atkinson, John P, Terwindt, Gisela M, Ferrari, Michel D, Stam, Anine H, Kothari, Parul H, Shaikh, Aisha, Gschwendter, Andreas, Jen, Joanna C, Hodgkinson, Suzanne, Hardy, Todd A, Hayes, Michael, Kempster, Peter A, Kotschet, Katya E, Bajema, Ingeborg M, van Duinen, Sjoerd G, Maat-Schieman, Marion L C, de Jong, Paulus T V M, de Smet, Marc D, de Wolff-Rouendaal, Didi, Dijkman, Greet, Pelzer, Nadine, Kolar, Grant R, Schmidt, Robert E, Lacey, JoAnne, Joseph, Daniel, Fintak, David R, Grand, M Gilbert, Brunt, Elizabeth M, Liapis, Helen, Hajj-Ali, Rula A, Kruit, Mark C, van Buchem, Mark A, Dichgans, Martin, Frants, Rune R, van den Maagdenberg, Arn M J M, Haan, Joost, Baloh, Robert W, Atkinson, John P, Terwindt, Gisela M, and Ferrari, Michel D

Abstract

Cerebroretinal vasculopathy, hereditary vascular retinopathy, and hereditary endotheliopathy, retinopathy, nephropathy and stroke are neurovascular syndromes initially described as distinct entities. Recently they were shown to be one disease caused by C-terminal frame-shift mutations in TREX1, which was termed 'retinal vasculopathy with cerebral leukodystrophy'. Here we defined the genetic and clinicopathologic spectrum of this clinically and pathophysiologically poorly characterized and frequently misdiagnosed fatal neurovascular disorder. We identified five different TREX1 mutations in 78 members from 11 unrelated families and by using a standardized study protocol we retrospectively reviewed and aggregated the associated clinical, neuroimaging, and pathology data. Findings were similar across mutations and families. Sixty-four mutation carriers had vascular retinopathy. Neuroimaging revealed (i) punctate, hyperintense, white matter lesions with or without nodular enhancement in 97% of them; (ii) rim-enhancing mass lesions in 84%; and (iii) calcifications in the white matter in 52%. Ninety per cent had clinical manifestations of brain disease, including focal neurological deficits (68%), migraine (59%), cognitive impairment (56%), psychiatric disturbances (42%), and seizures (17%). One mutation carrier had enhancing brain lesions and neurological features but unknown retinopathy status. Additional systemic features included liver disease (78%), anaemia (74%), nephropathy (61%), hypertension (60%), mild Raynaud's phenomenon (40%), and gastro-intestinal bleeding (27%). Mean (± standard deviation) age at diagnosis was 42.9 ± 8.3 years and at death 53.1 ± 9.6 years. Pathological examination revealed systemic vasculopathy with luminal narrowing and multi-laminated basement membranes. The 13 mutation carriers without retinopathy or brain lesions were on average 8 years younger (mean age: 35.1 ± 10.6 years). Of them, 54% had mild Raynaud's phenomenon, 42% had migrain

Published
2016

4. Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Author

Stam, Anine H., primary, Kothari, Parul H., additional, Shaikh, Aisha, additional, Gschwendter, Andreas, additional, Jen, Joanna C., additional, Hodgkinson, Suzanne, additional, Hardy, Todd A., additional, Hayes, Michael, additional, Kempster, Peter A., additional, Kotschet, Katya E., additional, Bajema, Ingeborg M., additional, van Duinen, Sjoerd G., additional, Maat-Schieman, Marion L. C., additional, de Jong, Paulus T. V. M., additional, de Smet, Marc D., additional, de Wolff-Rouendaal, Didi, additional, Dijkman, Greet, additional, Pelzer, Nadine, additional, Kolar, Grant R., additional, Schmidt, Robert E., additional, Lacey, JoAnne, additional, Joseph, Daniel, additional, Fintak, David R., additional, Grand, M. Gilbert, additional, Brunt, Elizabeth M., additional, Liapis, Helen, additional, Hajj-Ali, Rula A., additional, Kruit, Mark C., additional, van Buchem, Mark A., additional, Dichgans, Martin, additional, Frants, Rune R., additional, van den Maagdenberg, Arn M. J. M., additional, Haan, Joost, additional, Baloh, Robert W., additional, Atkinson, John P., additional, Terwindt, Gisela M., additional, and Ferrari, Michel D., additional

Published
2016
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5. Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

Author

Loesch, Danuta Z., primary, Godler, David E., additional, Evans, Andrew, additional, Bui, Quang M., additional, Gehling, Freya, additional, Kotschet, Katya E., additional, Trost, Nicholas, additional, Storey, Elsdon, additional, Stimpson, Paige, additional, Kinsella, Glynda, additional, Francis, David, additional, Thorburn, David R., additional, Venn, Alison, additional, Slater, Howard R., additional, and Horne, Malcolm, additional

Published
2011
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7. C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

Author

Richards, Anna, primary, van den Maagdenberg, Arn M J M, additional, Jen, Joanna C, additional, Kavanagh, David, additional, Bertram, Paula, additional, Spitzer, Dirk, additional, Liszewski, M Kathryn, additional, Barilla-LaBarca, Maria-Louise, additional, Terwindt, Gisela M, additional, Kasai, Yumi, additional, McLellan, Mike, additional, Grand, Mark Gilbert, additional, Vanmolkot, Kaate R J, additional, de Vries, Boukje, additional, Wan, Jijun, additional, Kane, Michael J, additional, Mamsa, Hafsa, additional, Schäfer, Ruth, additional, Stam, Anine H, additional, Haan, Joost, additional, de Jong, Paulus T V M, additional, Storimans, Caroline W, additional, van Schooneveld, Mary J, additional, Oosterhuis, Jendo A, additional, Gschwendter, Andreas, additional, Dichgans, Martin, additional, Kotschet, Katya E, additional, Hodgkinson, Suzanne, additional, Hardy, Todd A, additional, Delatycki, Martin B, additional, Hajj-Ali, Rula A, additional, Kothari, Parul H, additional, Nelson, Stanley F, additional, Frants, Rune R, additional, Baloh, Robert W, additional, Ferrari, Michel D, additional, and Atkinson, John P, additional

Published
2007
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8. Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1gene in patients with parkinsonism

Author

Loesch, Danuta Z., Godler, David E., Evans, Andrew, Bui, Quang M., Gehling, Freya, Kotschet, Katya E., Trost, Nicholas, Storey, Elsdon, Stimpson, Paige, Kinsella, Glynda, Francis, David, Thorburn, David R., Venn, Alison, Slater, Howard R., and Horne, Malcolm

Abstract

Our previous results showed that both gray zone and lower end premutation range (40–85 repeats) fragile X mental retardation 1 (FMR1) alleles were more common among males with parkinsonism than in the general population. This study aimed to determine whether these alleles have a significant role in the manifestations and pathogenesis of parkinsonian disorders.

Published
2011
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9. Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

Author

Quang M. Bui, Elsdon Storey, Glynda J. Kinsella, Nicholas Trost, David E. Godler, Freya Gehling, Alison Venn, Katya Kotschet, David R. Thorburn, Howard R. Slater, Andrew Evans, David Francis, Paige Stimpson, Danuta Z. Loesch, Malcolm K. Horne, Loesch, Danuta Z, Godler, David E, Evans, Andrew, Bui, Quang M, Gehling, Freya, Kotschet, Katya E, Trost, Nicholas, Storey, Elsdon, Stimpson, Paige, Kinsella, Glynda, Francis, David, Thorburn, David R, Venn, Alison, Slater, Howard R, and Horne, Malcolm

Subjects
Male, medicine.medical_specialty, Pathology, Transcription, Genetic, Population, Disease, Motor Activity, Biology, DNA, Mitochondrial, Article, Pathogenesis, Fragile X Mental Retardation Protein, Parkinsonian Disorders, gray zone, Internal medicine, mitochondrial dysfunction, medicine, Humans, RNA, Messenger, Allele, Cognitive decline, education, Alleles, Genetic Association Studies, parkinsonism, Genetics (clinical), Aged, Aged, 80 and over, education.field_of_study, Parkinsonism, Middle Aged, medicine.disease, FMR1, nervous system diseases, premutation, Endocrinology, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion
Abstract

Purpose: Our previous results showed that both gray zone and lower end premutation range (40-85 repeats) fragile X mental retardation 1(FMR1) alleles were more common among males with parkinsonism than in the general population. This study aimed to determine whether these alleles have a significant role in the manifestations and pathogenesis of parkinsonian disorders. Methods: Detailed clinical assessment and genetic testing were performed in 14 male carriers of premutation and gray zone FMR1 alleles and in 24 non carriers identified in a sample of males with parkinsonism. Results: The premutation gray zone carriers presented with more severe symptoms than disease controls matched for age, diagnosis, disease duration, and treatment. The Parkinson disease (Unified Parkinson's Disease Rating Scale) motor score and the measures of cognitive decline (Mini-Mental State Examination and/or Addenbrooke's Cognitive Examination Final Revised Version Ascores) were significantly correlated with the size of the CGG repeat and the (elevated) levels of antisense FMR1 and Cytochrome C1 mRNAs in blood leukocytes. In addition, the carriers showed a significant depletion of the nicotinamide adenine dinucleotide, reduced dehydrogenase sub unit 1 mitochondrial gene in whole blood. Conclusion: Small CGG expansion FMR1 alleles (gray zone and lower end premutation) play a significant role in the development of the parkinsonian phenotype,possibly through the cytotoxic effect of elevated sense and/or antisense FMR1 transcripts involving mitochondrial dysfunction and leading to progressive neurodegeneration. Refereed/Peer-reviewed

Published
2011

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