University of Groningen Young-onset movement disorders van Egmond, Martje Elisabeth

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University of Groningen

Young-onset movement disorders

van Egmond, Martje Elisabeth

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Publication date: 2018

Link to publication in University of Groningen/UMCG research database

Citation for published version (APA):

van Egmond, M. E. (2018). Young-onset movement disorders: Genetic advances require a new clinical approach. Rijksuniversiteit Groningen.

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519439-L-st-egmond 519439-L-st-egmond 519439-L-st-egmond 519439-L-st-egmond Processed on: 18-5-2018 Processed on: 18-5-2018 Processed on: 18-5-2018 Processed on: 18-5-2018

Young-onset movement disorders

Genetic advances require a new clinical approach

Young-onset movement disorders: genetic advances require a new clinical approach. (dit proefschrift)

A dedicated tertiary multidisciplinary approach to complex young-onset movement disorders facilitates phenotyping and improves recognition of rare disorders. (dit proefschrift) Particularly in this next-generation sequencing era, optimal dystonia classification methodologies require reasonable consensus to be useful for clinical and research purposes. (dit proefschrift)

A strategy incorporating a diagnostic algorithm is recommended to ensure that patients with myoclonus and young-onset dystonia optimally benefit from the availability of next-generation sequencing techniques. (dit proefschrift)

Early recognition of myoclonus in childhood-onset neurogenetic disorders is important, because treatment can lead to significant functional improvement. (dit proefschrift) Clinicians should consider mutation analysis of GOSR2 in young children with ataxia and areflexia, and in all patients with ataxia, areflexia and myoclonus. (dit proefschrift)

The art of percussion may have been replaced by ultrasound, but it will be long before any laboratory technique, including next-generation sequencing and neuroimaging, replaces a good movement disorders clinician. (Kapil Sethi and Antony Lang, Mov Dis Clin Pract 2017)

Progress in science depends on new techniques, new discoveries, and new ideas, probably in that order. (Sydney Brenner, Nobel Prize winner in 2002)

If the human brain were so simple that we could understand it, we would be so simple that we couldn’t. (Emerson Pugh, uitspraak stond ingelijst op het bureau van Michiel Staal)

Domheid kan verdwijnen door het stellen van vragen en de bereidheid tot twijfel aan antwoorden. (Baan Oterdoom)

Overbeweeglijkheid van de oren (‘wiggling ears’) kan wijzen op chorea maar is lang niet altijd pathologisch. (Movement Disorder Congress, Stockholm, 2015)

Liefde kost niets om te krijgen, maar is onbetaalbaar als je het hebt. (Kees van Kooten)

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Martje van Egmond, mei 2018 Stellingen behorende bij het proefschrift

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Processed on: 22-5-2018 PDF page: 1PDF page: 1PDF page: 1PDF page: 1

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Young-onset movement disorders

Genetic advances require a new clinical approach

Martje van Egmond

Young-onset movement disorders

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1

Young-onset movement disorders

Genetic advances require a new clinical approach

Martje van Egmond

Young-onset movement disorders

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2

Layout Bianca Pijl, www.pijlldesign.nl, Groningen, the Netherlands Cover design Bianca Pijl and Martje van Egmond Printed by Ipskamp Printing

Enschede, the Netherlands ISBN 978-94-034-0724-1 (print)

978-94-034-0723-4 (digital)

All rights reserved. No part of this thesis may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, without prior written permission of the author, or when appropriate, of the publishers of the publications included in this thesis.

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Young-onset movement disorders

Genetic advances require a new clinical approach

Proefschrift

ter verkrijging van de graad van doctor aan de Rijksuniversiteit Groningen

op gezag van de

rector magnificus prof. dr. E. Sterken en volgens besluit van het College voor Promoties

De openbare verdediging zal plaatsvinden op woensdag 11 juli 2018 om 14:30 uur

door

Martje Elisabeth van Egmond

geboren op 21 april 1980 te Groningen

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2

http://books.ipskampprinting.nl/thesis/519439-egmond

Layout Bianca Pijl, www.pijlldesign.nl, Groningen, the Netherlands Cover design Bianca Pijl and Martje van Egmond Printed by Ipskamp Printing

Enschede, the Netherlands ISBN 978-94-034-0724-1 (print)

978-94-034-0723-4 (digital)

All rights reserved. No part of this thesis may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, without prior written permission of the author, or when appropriate, of the publishers of the publications included in this thesis.

3

Young-onset movement disorders

Genetic advances require a new clinical approach

Proefschrift

ter verkrijging van de graad van doctor aan de Rijksuniversiteit Groningen

op gezag van de

rector magnificus prof. dr. E. Sterken en volgens besluit van het College voor Promoties

De openbare verdediging zal plaatsvinden op woensdag 3 juli 2019 om 14:30 uur

door

Martje Elisabeth van Egmond

geboren op 21 april 1980 te Groningen

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4

Promotor

Prof. dr. M.A.J. de Koning-Tijssen

Copromotor

Dr. T.J. de Koning

Beoordelingscommissie

Prof. dr. V. Bonifati Prof dr. N. Knoers Prof. dr. T. van Laar

5 Jaap, Marianne en Mila,

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4

Promotor

Prof. dr. M.A.J. de Koning-Tijssen

Copromotor

Dr. T.J. de Koning

Beoordelingscommissie

Prof. dr. V. Bonifati Prof dr. N. Knoers Prof. dr. T. van Laar

5 Jaap, Marianne en Mila,

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6

Paranimfen

Lianne van den Berg Margriet van der Waal

7 Chapter 1 Chapter 2 Chapter 3 Chapter 4 Chapter 5 Chapter 6 Table of contents

Introduction and aim

Part I: A multidisciplinary approach to young-onset movement disorders

Crossing barriers: a multidisciplinary diagnostic approach to children and adults with young-onset movement disorders

(J Clin Mov Disord 2018)

Part II: Dystonia

Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm

(J Neurol Neurosurg Psychiatry 2015)

A post hoc study on gene panel analysis for the diagnosis of dystonia

(Mov Disord 2017)

Dystonia classification and syndrome definition: moderate agreement among experienced clinicians

(Provisionally accepted for publication in Movement Disorders)

Multidisciplinary treatment of genetic dystonias, two illustrative cases 6.1 Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation

(Mov Disord 2017)

6.2 Reversal of status dystonicus after relocation of pallidal electrodes in DYT6 generalized dystonia

(Tremor Other Hyperkinet Mov 2018)

11 29 31 45 47 85 107 127 129 137

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6

Paranimfen Lianne van den Berg Margriet van der Waal

7 Chapter 1 Chapter 2 Chapter 3 Chapter 4 Chapter 5 Chapter 6 Table of contents

Introduction and aim

Part I: A multidisciplinary approach to young-onset movement disorders

Crossing barriers: a multidisciplinary diagnostic approach to children and adults with young-onset movement disorders

(J Clin Mov Disord 2018)

Part II: Dystonia

Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm

(J Neurol Neurosurg Psychiatry 2015)

A post hoc study on gene panel analysis for the diagnosis of dystonia

(Mov Disord 2017)

Dystonia classification and syndrome definition: moderate agreement among experienced clinicians

(Provisionally accepted for publication in Movement Disorders)

Multidisciplinary treatment of genetic dystonias, two illustrative cases 6.1 Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation

(Mov Disord 2017)

6.2 Reversal of status dystonicus after relocation of pallidal electrodes in DYT6 generalized dystonia

(Tremor Other Hyperkinet Mov 2018)

11 29 31 45 47 85 107 127 129 137

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8 Chapter 7 Chapter 8 Chapter 9 9.1 9.2 9.3 Chapter 10 Appendix

Part III: Myoclonus

A novel diagnostic approach to patients with myoclonus

(Nat Rev Neurol 2015)

Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment (Eur J Paediatr Neurol 2015)

North Sea Progressive Myoclonus Epilepsy Phenotyping

Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation

(Mov Disord 2014)

Cortical myoclonus in a young boy with GOSR2 mutation mimics chorea

(Mov Dis Clin Pract 2015)

North Sea Progressive Myoclonus Epilepsy Treatment

The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study

(Orphanet J Rare Dis 2017)

Discussion and concluding remarks

Summary in Dutch / Nederlandse samenvatting List of main abbreviations

Acknowledgements / Dankwoord List of publications

About the author

147 149 191 203 205 215 221 223 235 251 253 259 261 265 267 519439-L-bw-egmond 519439-L-bw-egmond 519439-L-bw-egmond 519439-L-bw-egmond Processed on: 22-5-2018 Processed on: 22-5-2018 Processed on: 22-5-2018

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8 Chapter 7 Chapter 8 Chapter 9 9.1 9.2 9.3 Chapter 10 Appendix

Part III: Myoclonus

A novel diagnostic approach to patients with myoclonus

(Nat Rev Neurol 2015)

Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment (Eur J Paediatr Neurol 2015)

North Sea Progressive Myoclonus Epilepsy Phenotyping

Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation

(Mov Disord 2014)

Cortical myoclonus in a young boy with GOSR2 mutation mimics chorea

(Mov Dis Clin Pract 2015)

North Sea Progressive Myoclonus Epilepsy Treatment

The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study

(Orphanet J Rare Dis 2017)

Discussion and concluding remarks

Summary in Dutch / Nederlandse samenvatting List of main abbreviations

Acknowledgements / Dankwoord List of publications

About the author

147 149 191 203 205 215 221 223 235 251 253 259 261 265 267 519439-L-bw-egmond 519439-L-bw-egmond 519439-L-bw-egmond 519439-L-bw-egmond Processed on: 22-5-2018 Processed on: 22-5-2018 Processed on: 22-5-2018