ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
Citation Manager Formats
Make Comment
See Comments

Article Information
- Received August 13, 2017
- Accepted in final form December 12, 2017
- First Published March 21, 2018.
Author Disclosures
- Christian G. Bouwkamp, PhD*,
- Zaid Afawi, MD, PhD*,
- Aviva Fattal-Valevski, MD*,
- Inge E. Krabbendam, MSc,
- Stefano Rivetti, PhD,
- Rafik Masalha, MD,
- Marialuisa Quadri, PhD,
- Guido J. Breedveld, BSc,
- Hanna Mandel, MD, PhD,
- Muhammad Abu Tailakh, PhD,
- H. Berna Beverloo, PhD,
- Giovanni Stevanin, PhD,
- Alexis Brice, MD,
- Wilfred F.J. van IJcken, PhD,
- Meike W. Vernooij, MD, PhD,
- Amalia M. Dolga, PhD,
- Femke M.S. de Vrij, PhD,
- Vincenzo Bonifati, MD, PhD* and
- Steven A. Kushner, MD, PhD*
- Christian G. Bouwkamp, PhD*,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Zaid Afawi, MD, PhD*,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Aviva Fattal-Valevski, MD*,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Inge E. Krabbendam, MSc,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Stefano Rivetti, PhD,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Rafik Masalha, MD,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Marialuisa Quadri, PhD,
NONE
NONE
(1) Yes, I received funding for travel from the International Parkinson & Movement Disorder Society, which is a not-for profit organization
NONE
NONE
NONE
NONE
Yes, I serve as advisor for the commercial entity Stichting Centre for Human Drug Research
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Guido J. Breedveld, BSc,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Hanna Mandel, MD, PhD,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Muhammad Abu Tailakh, PhD,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- H. Berna Beverloo, PhD,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Giovanni Stevanin, PhD,
NONE
NONE
Movement Disorder Society, travel honoraria of the MDS meeting 2017 in Vancouver
NONE
1) Diagnosis of hereditary spastic paraplegias (HSP) by identification of a mutation in the KIAA1840 gene or protein. National submission by INSERM Transfert September 11, 2006. International extension September 11 2007; demand n? PCT/IB2007/003535, publication n? WO/2008/032218 dated March 20 2008 (filed). 2)Diagnosis of hereditary spastic paraplegias (HSP) by identification of a mutation in the ZFYVE26 gene or protein. National submission by INSERM Transfert April 2 2008. International extension March 31 2009, demand n? PCT/EP2009/053838 (filed).
NONE
NONE
NONE
NONE
NONE
NONE
NONE
(1) European Community?s Seventh Framework Program FP7/2007- 2013 under agreement 2012-2017-305121 ?Integrated European- omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases (NEUROMICS), participant, (2) French Agency for Research (grant SPATAX-QUEST, to GS), (3) Erare Programme 2013-2018 (NEUROLIPID, participant) and (4) Erare programme 2016-2019 (PREPARE, participant)
(1) the program ?Investissements d?avenir? ANR-10-IAIHU-06 (role participant, 2012-2022)
(1) Association Strumpell-Lorrain France 2016-2018, role=PI, (2) Association Connaitre les Syndromes C?r?belleux 2015-2017 role=PI
NONE
NONE
NONE
NONE
NONE
NONE
- Alexis Brice, MD,
(1) FWO (Research Foundation Flanders) (2) ERC (European Research Council) (3) BMBF (Bundesministeriums f?r Bildung and Forschung-Berlin Germany)
NONE
NONE
(1)Neurology and Clinical Neuroscience, Editorial Board Member, 2012-(2)Parkinsonism and Related Disorders,Editorial Board Member,2008-(3)Brain,Editorial Board Member,2007-(4)Neurodegenerative Diseases, Editorial Board Member, 2003-(5) The Cerebellum, Editorial Board Member, 2001-(6) Neurogenetics, Editorial Board Member, 2001-
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
Grants from French Research Agency, EU
NONE
Grant from FP (France Parkinson Association), RDS (Roger de Spoelberch Foundation), FDF (Fondation de France), FRM (Fondation pour la Recherche M?dicale).
NONE
NONE
NONE
NONE
NONE
NONE
- Wilfred F.J. van IJcken, PhD,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Meike W. Vernooij, MD, PhD,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
(1) research fellowship from the Erasmus MC University Medical Center, Rotterdam, the Netherlands (2) a Netherlands Organization of Scientific Research (NWO)/ZonMW clinical fellowship (90700435)
NONE
NONE
NONE
NONE
NONE
NONE
- Amalia M. Dolga, PhD,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Femke M.S. de Vrij, PhD,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Vincenzo Bonifati, MD, PhD* and
(1) Stichting Parkinson Fonds (The Netherlands), Scientific Advisory Board (role without compensation), (2) International Association of Parkinsonism and Related Disorders (IAPRD), Executive Board, (role without compensation), (3) Erasmus MC Medical Research Advisory Committee (Mrace),(role without compensation)
NONE
(1) Sun Pharmaceutical Laboratories Limited, India, speaker honoraria
(1) Parkinsonism & Related Disorders, associate editor, 2008-present,(role with compensation), (2) Current Neurology and Neuroscience Reports, section editor, 2005-present,(role with compensation), (3) Neurogenetics, editorial board member, 2011-present, (role without compensation), (4) Journal of Parkinson's Disease, editorial board member, 2011-present,(role without compensation), (5) Movement Disorders Clinical Practice, editorial board member, 2014-present,(role without compensation)
NONE
NONE
NONE
(1) International Parkinson and Movement Disorder Society, (2) LSP Life Sciences Fund N.V., Netherlands
NONE
NONE
NONE
NONE
(1) Erasmus Medical Center Rotterdam, The Netherlands, Erasmus MRace grant, co-Principal Investigator, 2014-2018, (2) ZonMw, The Netherlands, under the aegis of the EU Joint Programme - Neurodegenerative Disease Research (JPND), site-PI in a Consortium grant, 2016-2019
NONE
(1) Stichting Parkinson Fonds (The Netherlands), (2) Centre for Human Drug Research (CHDR), Leiden, The Netherlands
NONE
NONE
NONE
NONE
NONE
NONE
- Steven A. Kushner, MD, PhD*
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
? Netherlands Organization for Scientific Research (NWO), 834.12.002, Co-PI, 2012-2014 ? Netherlands Ministry of Economic Affairs: Technology Foundation STW (Perspectives Program), OnTime Program (P10-18), Workpackage Leader, 2012-2014 ? European Research Council (ERC FP7 Marie Curie International Fellowship), 254711, PI, 2011-2012 ? Netherlands Organization for Scientific Research (NWO), 40-00506-98-10026, PI, 2010-2012 ? Netherlands Ministry of Finance: Economic Structure Enhancing Fund (Life Sciences & Health), NeuroBasic Program Project, Contributing Scientist, 2011-2014 ? Netherlands Organization for Scientific Research, Division of Medical Sciences, 017.106.384, PI, 2010-2014
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- From the Department of Psychiatry (C.G.B., S.R., F.M.S.d.V., S.A.K.) and Department of Clinical Genetics (C.G.B., M.Q., G.J.B., H.B.B., V.B.), Erasmus MC, Rotterdam, The Netherlands; Sackler School of Medicine (Z.A., A.F.-V.), Tel-Aviv University, Ramat-Aviv; Pediatric Neurology Unit (A.F.-V.), Dana Children's Hospital, Tel-Aviv Medical Center, Israel; Department of Molecular Pharmacology (I.E.K., A.M.D.), Groningen Research Institute of Pharmacy, University of Groningen, The Netherlands; Clalit Health Services (R.M.), Sharon-Shomron, Hadera District; Faculty of Health Science (R.M.), Ben-Gurion University of the Negev, Beer Sheva; Metabolic Disease Unit (H.M.), Meyer Children's Hospital, Rambam Health Care Campus and Technion Faculty of Medicine, Haifa; Nursing Research Unit (M.A.T.), Soroka University Medical Center and Faculty of Health Science, Ben Gurion University of the Negev, Be'er Sheva, Israel; Ecole Pratique des Hautes Etudes (G.S.), PSL Research University, Neurogenetics Laboratory; Institut du Cerveau et de la Moelle Epinière (G.S., A.B.), Sorbonne University, Pierre and Marie Curie University UMR_S1127, INSERM u1127, CNRS UMR5225, Paris, France; Center for Biomics (W.F.J.v.I.), Erasmus MC; Department of Epidemiology (M.W.V.) and Department of Radiology (M.W.V.), Erasmus MC, Rotterdam, The Netherlands.
- Correspondence
Dr. S.A. Kushner s.kushner{at}erasmusmc.nl
Article usage
Cited By...
Letters: Rapid online correspondence
REQUIREMENTS
If you are uploading a letter concerning an article:
You must have updated your disclosures within six months: http://submit.neurology.org
Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.
If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.
Submission specifications:
- Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
- Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
- Submit only on articles published within 6 months of issue date.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- Submitted comments are subject to editing and editor review prior to posting.
You May Also be Interested in
Related Articles
- No related articles found.