Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes
Citation Manager Formats
Make Comment
See Comments

Article Information
- Received January 13, 2020
- Accepted in final form June 25, 2020
- First Published September 1, 2020.
Article Versions
- Previous version (September 1, 2020 - 12:45).
- You are viewing the most recent version of this article.
Author Disclosures
- Maria Gisatulin*,
- Valerija Dobricic, PhD*,
- Christine Zühlke, MD, PhD,
- Yorck Hellenbroich, MD,
- Vera Tadic, MD,
- Alexander Münchau, MD,
- Klaus Isenhardt, MD,
- Katrin Bürk, MD,
- Melanie Bahlo, PhD,
- Paul J. Lockhart, PhD,
- Katja Lohmann, PhD†,
- Christoph Helmchen, MD† and
- Norbert Brüggemann, MD†
- Maria Gisatulin*,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Valerija Dobricic, PhD*,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Christine Zühlke, MD, PhD,
None
NONE
None
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
None
NONE
NONE
NONE
NONE
NONE
NONE
- Yorck Hellenbroich, MD,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Vera Tadic, MD,
NONE
NONE
(1) Actelion Pharmaceuticals (2) St. Jude Medical
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
(1) Deutsche Forschungsgemeinschaft (DFG; SFB 936/project C5; Prof. Dr. A. Münchau)
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Alexander Münchau, MD,
German Tourette syndrome Association; Alliance of patients with chronic rare diseases
NONE
Commercial research support: Grants by Pharm Allergan, Ipsen, Merz Pharmaceuticals, Actelion Honoraria for lectures from Pharm Allergan, Ipsen, Merz Pharmaceuticals, Actelion, GlaxoSmithKline, Desitin, Teva, TakedaSupport from non-profit foundations or societies Possehl-Stiftung, Lubeck; Dystonia Coalition (USA); Tourette Syndrome Association (Germany); European Huntington Disease Network; N.E.MO. Charity supporting the research of paediatric movement disorders
DG Neurologie, Frontiers in Psychiatry, Cognitive Neuroscience,
NONE
Royalties for the book Neurogenetics (Oxford University Press)
NONE
Desitin, Merz Pharmaceuticals, Admedicum
Honoraria for lectures: Pharm Allergan, Ipsen, Merz Pharmaceuticals, Actelion, GlaxoSmithKline, Desitin, Teva, Takeda
NONE
NONE
Grants by Pharm Allergan, Ipsen, Merz Pharmaceuticals, Actelion
Deutsche Forschungsgemeinschaft (DFG): projects 1692/3-1, 4-1, SFB 936, and FOR 2698 (project numbers 396914663, 396577296, 396474989), Innovationsausschuss of the Gemeinsamer Bundesausschuss: Translate NAMSE (structural support for the Lubeck Center for Rare Diseases); European Reference Network ? Rare Neurological Diseases (ERN ? RND)
NONE
Support from Foundations: Possehl-Stiftung (Lubeck, Germany), Margot und Jürgen Wessel Stiftung (Lübeck, Germany), Tourette Syndrome Association (Germany), Interessenverband Tourette Syndrom (Germany), CHDI, Damp-Stiftung;
NONE
NONE
Royalties from the publication of the book Neurogenetics (Oxford University Press)
NONE
NONE
NONE
- Klaus Isenhardt, MD,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Katrin Bürk, MD,
None
NONE
2018CHDITravel reimbursement and Congress Fee
NONE
NONE
NONE
Kliniken Schmieder, StuttgartNeurologist two years
NONE
NONE
NONE
NONE
NONE
NONE
NONE
CHDI
NONE
NONE
NONE
NONE
NONE
NONE
- Melanie Bahlo, PhD,
Macular Telangiectasia (MacTel) Consortium Scientific advisor March 2012 (non-profit) Department of Health (Australian Government), scientific advisory member (non-profit)
NONE
Conference Presentations 2014 Human Genetics Society of Australia Conference, August, Adelaide, Australia (Plenary speaker, all expenses paid) Australian Statistical Society-Institute of Mathematical Statistics, July, Sydney, Australia (Session Organiser, Invited Speaker, Registration paid) International Conference on Systems Biology, September, Melbourne (Invited Speaker, Registration and Accommodation paid) 2013 Sixth Barossa Meeting "Cell Signalling Cell Signalling in the Omics Era", November, Barossa Valley, Australia, November (Invited Speaker, all expenses paid) The 8th International Conference on Genomics & Bio-IT APAC November, Shenzhen, China (Invited Speaker, all expenses paid except air travel)2012 The 7th International Conference on Genomics & Bio- IT APAC 2012, Hong Kong, China (Invited Speaker) International Mathematics Institute conference, Pacific Region, Tsukuba, Japan (Invited Speaker) Australian Statistical Society Conference, Adelaide (Invited speaker) International Stroke Genetics Meeting, Newcastle, Australia (Plenary speaker, all expenses paid) Human Genome Meeting, Sydney (Invited Speaker) AGTA (Invited Speaker, $500 towards costs) Bioinfosummer (2019) sydney all expenses paid FAME conference, Hangzhou, China 2019 all expenses paid Australian Academy of Science Australia-China symposium on precision medicine, Melbourne (invited speaker, all expenses paid) Other Presentations Discussant & Scientific advisor, MacTel Consortium Meeting, 2x pa 2012-2019 (New York/La Jolla) Viertel Symposium Brisbane (invited speaker, all expenses paid)
Associate Editor, Statistical Applications in Genetics and Molecular Biology, 2006-2012 F1000 Faculty Member Medical Genetics section 2011-present
Method of determining response to treatment with immunomodulatory composition Details genetic markers that predict response to Hepatitis C treatment. US provisional patent 150230, filed April 29th, 2011 (1407994)
NONE
NONE
Other Presentations Discussant & Scientific advisor, MacTel Consortium Meeting, Los Angeles, USA (Invited, all expenses paid), March 2012
NONE
NONE
NONE
NONE
2016-2020 NHMRC Senior Research Fellowship A, APP1102971, Bahlo M, Discovery and translation of disease causing mutations with genomic and transcriptomic data Â, $124,531 pa 2014-2018 NHMRC Program Grant Application APP1054618, Speed TP, Smyth GK, Bahlo M, Papenfuss TP, ÂComputational and statistical bioinformatics for medical ÂomicsÂ" 2013-2015 NHMRC Project Grant Application APP1044175, Scheffer I, Lockhart P, Bahlo M, Delatycki M, Wilson S, ÂGenetics of Autism 2013-2014 National Heart Foundation Award G 12S 6597, NHMRC Project Grant Application APP1051333 Fatkin D, Bahlo M, Kikuchi K, ÂGenes and atrial fibrillation 2012-2014 Australian Research Council (ARC) Discovery Project Grant DP120100285. Scheffer IE, Morgan AT, Hildebrand MS, Connelly A, Liegeois F, Bahlo M, Smith RJ. ÂElucidating the neural pathways and genetic basis of speech 2011-2012 Victorian Life Sciences Computing Initiative (VLSCI) half-stipend for UROP student David Wakeham, Bahlo M, ÂAnalysis of massively parallel sequencing data in family studiesÂ, 2010-2012 Royal Melbourne Hospital Home Lottery Research Awards ÂGenome-wide Multigenic Pharmacogenomic Classifiers for Newly Treated EpilepsyÂ, Petrovski S, O'Brien TJ, Huggins RM., Moldovan M, Bahlo M 2010-2013 Leukemia Foundation National Research Program. Fuller SJ, Hahn CN, Bahlo M, Scott HS, Wiley JS. ÂUsing familial predisposition to Chronic Lymphocytic Leukaemia to follow disease progression 2010-2014 ARC Future Fellowship, Level 1, ID # FT100100764, ÂDeveloping methods for the analysis of massively parallel sequencing data in family studies 2011-2015 NHMRC Senior Research Fellowship A, ID #1002098, ÂUsing modern DNA techniques to identify the causes of genetic disease in families (This has been accepted as an honorary appointment) Program Grant Program Grant ID # 490037, Foote SJ, Speed TP, Smyth GK, Bahlo M, Chalmers D, Amor DJ, ÂGenetic and Bioinformatic Analysis of Complex Human DiseasesÂ, 2011 Cancer Australia Foote SJ, Dickinson J, Stankovich J, Thomson R, Bahlo M ÂIntegrative genomic approaches to understanding the genetics of prostate cancer 2009-2011 ARC Linkage Grant LPO990067 ÂFunctional Genomics to Predict and Enhance Response to Interferon George J, Booth D, Yang J, Bahlo M. 2007-2011 DEST International Science Linkages grant ID # CG120047. Berkovic S, Korczyn M, Mulley J, Gecz J, Bahlo M. ÂAn international strategy for gene identification leading to discovery of new targets for treatment of neurological disease.Â
NONE
Human Genetics Society of Australia Epilepsy Society of Australia Royal Statistical Society Institute of Mathematical Statistics Biometrics Society of Australasia Australian Statistics Society American Society of Human Genetics International Genetic Epidemiology Society
NONE
NONE
NONE
NONE
NONE
NONE
- Paul J. Lockhart, PhD,
NONE
NONE
NONE
(1) Genetics Research International, Editorial board member, 2010-2017 (2) Open Access (OA) Genetics, Editorial board member, 2012-2016 (3) Journal of Neurochemistry, Handling Editor, 2018-current
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
1. National Health and Medical Research Council (Australia) Project grant APP1144724 2018-2020. 2. National Health and Medical Research Council (Australia) Project grant APP1128933 2017-2018. 3. National Health and Medical Research Council (Australia) Project grant APP1098255 2016-2020. 4. National Health and Medical Research Council (Australia) Project grant APP1161549 2019-2021.
NONE
1. Michael J Fox Foundation, Project Grant 12173, 20166-2018 2. McCusker Charitable Foundation, 2018 3. Vincent Chiodo Foundation 2019-2020
NONE
NONE
NONE
NONE
NONE
NONE
- Katja Lohmann, PhD†,
NONE
NONE
NONE
NONE
NONE
NONE
University of Luebeck
NONE
NONE
NONE
NONE
NONE
NONE
NONE
German Research Foundation(DFG; LO1555/3-2; LO1555/4-1) Dystonia Coalition Damp-Foundation
NONE
NONE
NONE
NONE
NONE
NONE
- Christoph Helmchen, MD† and
NONE
NONE
Received travel expenses and/or honoraria for lectures or educational activities not funded by industry
Frontiers Neuro-otology (Review Editor)
NONE
NONE
NONE
Commercial: honoraria from Sensorion, Heel company
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Norbert Brüggemann, MD†
None
NONE
Dr. Brüggemann received speaker honoraria from Abbvie and Teva.
Parkinsonism and Related Disorders, editorial board member, since 2018
NONE
NONE
NONE
Centogene
NONE
NONE
NONE
Dr. Brüggemann received research support from Medtronic, St Judes Medical and Bayer.
Dr. Norbert Brüggemann received funding from the German Research Foundation (BR 4328/2-1) and the Else-Kröner Fresenius Stiftung (2017_HA17).
NONE
Dr. Brüggemann received funding from the Collaborative Center for X-linked Dystonia-Parkinsonism at Massachusetts General Hospital, Boston, USA.
NONE
NONE
NONE
NONE
NONE
NONE
- From the Institute of Neurogenetics (M.G., V.D., V.T., K.L., N.B.), Institute of Human Genetics (C.Z., Y.H.), Institute of Systems Motor Science (A.M.), and Center of Brain, Behavior and Metabolism (N.B.), University of Lübeck; Department of Neurology (V.T., C.H., N.B.), University Medical Center Schleswig-Holstein, Campus Lübeck; Department of Neurology (K.I.), Klinikum Aschaffenburg; Department of Neurology (K.B.), Kliniken Schmieder, Stuttgart, Germany; Population Health and Immunity Division (M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (M.B.), University of Melbourne; Bruce Lefroy Centre (P.J.L.), Murdoch Children's Research Institute; and Department of Pediatrics (P.J.L.), University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.
- Correspondence
Dr. Brüggemann norbert.brueggemann{at}neuro.uni-luebeck.de
Article usage
Disputes & Debates: Rapid online correspondence
NOTE: All authors' disclosures must be entered and current in our database before comments can be posted. Enter and update disclosures at http://submit.neurology.org. Exception: replies to comments concerning an article you originally authored do not require updated disclosures.
- Stay timely. Submit only on articles published within the last 8 weeks.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- 200 words maximum.
- 5 references maximum. Reference 1 must be the article on which you are commenting.
- 5 authors maximum. Exception: replies can include all original authors of the article.
- Submitted comments are subject to editing and editor review prior to posting.
You May Also be Interested in
Related Articles
- No related articles found.