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Gang Qiang Bettencourt Conceição Holton Janice Lovejoy Christopher Chelban Viorica Oconnor Emer Yuan Yun Reilly Mary M. Hanna Michael Houlden Henry 《Journal of neurology》2020,267(9):2705-2712
Journal of Neurology - To identify the genetic cause of complex neuropathy in two siblings from a consanguineous family. The patients were recruited from our clinic. Muscle biopsy and whole-exome... 相似文献
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V. Chelban M. Alsagob K. Kloth A. Chirita‐Emandi J. Vandrovcova R. Maroofian I. Davagnanam S. Bakhtiari M. D. AlSayed Z. Rahbeeni H. AlZaidan N. T. Malintan J. Johannsen S. Efthymiou E. Ghayoor Karimiani K. Mankad S. A. Al‐Shahrani M. Beiraghi Toosi M. AlShammari S. Groppa N. A. Haridy L. AlQuait A. Qari R. Huma M. A. Salih R. Almass F. B. Almutairi M. H. Hamad I. A. Alorainy K. Ramzan F. Imtiaz M. Puiu M. C. Kruer T. Bierhals N. W. Wood D. Colak H. Houlden N. Kaya 《European journal of neurology》2020,27(2):334-342
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Wai Yan Yau FRACP Jana Vandrovcova PhD Roisin Sullivan MSc Zhongbo Chen MRCP Anna Zecchinelli MD Roberto Cilia MD Stefano Duga PhD Malgorzata Murray MSc Susana Carmona PhD Genomics England Research Consortium Viorica Chelban MRCP Hiroyuki Ishiura MD PhD Shoji Tsuji MD PhD Zane Jaunmuktane FRCPath Chris Turner FRCP PhD Nicholas W. Wood FRCP PhD Henry Houlden FRCP PhD 《Movement disorders》2021,36(1):251-255
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Viorica Chelban MD MSc MRCP Ekawat Vichayanrat MD MSc Lucia Schottlaende MD Valeria Iodice MD Henry Houlden Prof. MRCP 《Movement disorders》2018,33(3):359-371
The discovery of genetic links between alpha‐synuclein and PD has opened unprecedented opportunities for research into a new group of diseases, now collectively known as synucleinopathies. Autonomic dysfunction, including cardiac sympathetic denervation, has been reported in familial forms of synucleinopathies that have Lewy bodies at the core of their pathogenesis. SNCA mutations and multiplications, LRRK2 disease with Lewy bodies as well as other common, sporadic forms of idiopathic PD, MSA, pure autonomic failure, and dementia with Lewy bodies have all been associated with dysautonomia. By contrast, in familial cases of parkinsonism without Lewy bodies, such as in PARK2, the autonomic profile remains normal throughout the course of the disease. The degeneration of the central and peripheral autonomic systems in genetic as well as sporadic forms of neurodegenerative synucleinopathies correlates with the accumulation of alpha‐synuclein immunoreactive‐containing inclusions. Given that dysautonomia has a significant impact on the quality of life of sufferers and autonomic symptoms are generally treatable, a prompt diagnostic testing and treatment should be provided. Moreover, new evidence suggests that autonomic dysfunction can be used as an outcome prediction factor in some forms of synucleinopathies or premotor diagnostic markers that could be used in the future to define further research avenues. In this review, we describe the autonomic dysfunction of genetic synucleinopathies in comparison to the dysautonomia of sporadic forms of alpha‐synuclein accumulation and provide the reader with an up‐to‐date overview of the current understanding in this fast‐growing field. © 2018 International Parkinson and Movement Disorder Society 相似文献
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Viorica Chelban Matthew P. Wilson Jodi Warman Chardon Jana Vandrovcova M. Natalia Zanetti Eleni Zamba‐Papanicolaou Stephanie Efthymiou Simon Pope Maria R. Conte Giancarlo Abis Yo‐Tsen Liu Eloise Tribollet Nourelhoda A. Haridy Juan A. Botía Mina Ryten Paschalis Nicolaou Anna Minaidou Kyproula Christodoulou Kristin D. Kernohan Alison Eaton Matthew Osmond Yoko Ito Pierre Bourque James E. C. Jepson Oscar Bello Fion Bremner Carla Cordivari Mary M. Reilly Martha Foiani Amanda Heslegrave Henrik Zetterberg Simon J. R. Heales Nicholas W. Wood James E. Rothman Kym M. Boycott Philippa B. Mills Peter T. Clayton Henry Houlden 《Annals of neurology》2019,86(2):225-240
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Marianthi Breza MD MSc Jennifer Hirst PhD Viorica Chelban MD MSc Guillaume Banneau MD PhD Laurène Tissier MD Bophara Kol MD Thomas Bourinaris MD Samia A. Said MD Yann Péréon MD Anna Heinzmann MD Rabab Debs MD Raul Juntas-Morales MD Victoria G. Martinez MD Jean P. Camdessanche MD Clarisse Scherer-Gagou MD Jean-Médard Zola MD Alkyoni Athanasiou-Fragkouli MSc Stephanie Efthymiou MSc George Vavougios MD PhD Georgios Velonakis MD PhD Maria Stamelou MD PhD John Tzartos MD PhD Constantin Potagas MD PhD Thomas Zambelis MD PhD Caterina Mariotti MD PhD Craig Blackstone MD PhD Jana Vandrovcova PhD Theodoros Mavridis MD Chrisoula Kartanou MSc Leonidas Stefanis MD PhD Nicholas Wood MD PhD Georgia Karadima PhD Eric LeGuern MD PhD Georgios Koutsis MD PhD Henry Houlden MD PhD Giovanni Stevanin PhD 《Movement disorders》2021,36(4):1034-1038
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Genotype‐phenotype correlations,dystonia and disease progression in spinocerebellar ataxia type 14 下载免费PDF全文
Viorica Chelban MD MSc MRCP Sarah Wiethoff MD PhD Bjørn K. Fabian‐Jessing MD Nourelhoda A. Haridy MD Alaa Khan MSc Stephanie Efthymiou Msc Esther B. E. Becker PhD MSc Emer O'Connor MD MRCPI Joshua Hersheson MD Katrina Newland BSc Allan Thomas Hojland MD Pernille A. Gregersen MD Suzanne G. Lindquist MD PhD Michael B. Petersen MD Jørgen E. Nielsen MD Michael Nielsen MD Nicholas W. Wood MD Paola Giunti MD Henry Houlden MD 《Movement disorders》2018,33(7):1119-1129
Background: Spinocerebellar ataxia type 14 is a rare form of autosomal dominant cerebellar ataxia caused by mutations in protein kinase Cγ gene. Clinically, it presents with a slowly progressive, mainly pure cerebellar ataxia. Methods: Using next generation sequencing, we screened 194 families with autosomal dominant cerebellar ataxia and normal polyglutamine repeats. In‐depth phenotyping was performed using validated clinical rating scales neuroimaging and electrophysiological investigations. Results: We identified 25 individuals from 13 families carrying pathogenic mutations in protein kinase Cγ gene. A total of 10 unique protein kinase Cγ gene mutations have been confirmed of which 5 are novel and 5 were previously described. Our data suggest that the age at onset is highly variable; disease course is slowly progressive and rarely associated with severe disability. However, one third of patients presented with a complex ataxia comprising severe focal and/or task‐induced dystonia, peripheral neuropathy, parkinsonism, myoclonus, and pyramidal syndrome. The most complex phenotype is related to a missense mutation in the catalytic domain in exon 11. Conclusion: We present one of the largest genetically confirmed spinocerebellar ataxia type 14 cohorts contributing novel variants and clinical characterisation. We show that although protein kinase Cγ gene mutations present mainly as slowly progressive pure ataxia, more than a third of cases had a complex phenotype. Overall, our case series extends the phenotype and suggests that protein kinase Cγ gene mutations should be considered in patients with slowly progressive autosomal dominant cerebellar ataxia, particularly when myoclonus, dystonia, or mild cognitive impairment are present in the absence of polyglutamine expansion. © 2018 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society. 相似文献
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Chelban Viorica Catereniuc Daniela Aftene Daniela Gasnas Alexandru Vichayanrat Ekawat Iodice Valeria Groppa Stanislav Houlden Henry 《Journal of neurology》2020,267(9):2754-2770
Journal of Neurology - In this review, we describe the wide clinical spectrum of features that can be seen in multiple system atrophy (MSA) with a focus on the premotor phase and the non-motor... 相似文献
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