Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype
Citation Manager Formats
Make Comment
See Comments

Article Information
- Received June 11, 2018
- Accepted in final form August 21, 2018
- First Published October 22, 2018.
Author Disclosures
- Nataly I. Montes-Chinea, MD,
- Zhuo Guan, PhD,
- Marcella Coutts, MD,
- Cecilia Vidal, MD,
- Steve Courel, BS,
- Adriana P. Rebelo, PhD,
- Lisa Abreu, MPH,
- Stephan Zuchner, MD, PhD,
- J. Troy Littleton, PhD and
- Mario A. Saporta, MD, PhD
- Nataly I. Montes-Chinea, MD,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Zhuo Guan, PhD,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Marcella Coutts, MD,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Cecilia Vidal, MD,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Steve Courel, BS,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Adriana P. Rebelo, PhD,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Lisa Abreu, MPH,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Stephan Zuchner, MD, PhD,
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- J. Troy Littleton, PhD and
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NIH R01 #NS40296, PI, ?Characterization of the Drosophila Synaptotagmin Family? (7/1/2000-4/30/2016). NIH R01 #MH104536, PI, ?Imaging Synaptic Transmission of Individual Active Zones? (7/1/2014-6/30/2019). NIH R01 #MH099557, Co-PI, ?Computational and Functional Characterization of the Molecular Steps in Membrane Fusion? (7/16/2012-3/31/2017). NIH R21 #MH097680, PI ?Using Drosophila to Characterize the Molecular Pathogenesis of Autism? (4/1/2013-3/31/2016).
NONE
NONE
NONE
NONE
NONE
NONE
NONE
NONE
- Mario A. Saporta, MD, PhD
(1) Charcot-Marie-Tooth Association Scientific Advisory Board (2) Acceleron Data Safety Monitoring Board
NONE
NONE
(1) Journal of the Peripheral Nervous System, editorial board member, 2017-current.
NONE
NONE
NONE
(1) Alnylam, (2) Strongbridge, (3) Biogen, (4) Serepta
NONE
NONE
NONE
NONE
NONE
NONE
(1) Charcot-Marie-Tooth Association
NONE
NONE
NONE
NONE
NONE
NONE
- From the Department of Neurology (N.I.M.-C., M.C., C.V., M.A.S.), University of Miami Miller School of Medicine FL; Department of Biology (Z.G., J.T.L.) and Department of Brain and Cognitive Sciences (Z.G., J.T.L.), The Picower Institute for Learning & Memory, Massachusetts Institute of Technology, Cambridge; and Department of Human Genetics (S.C., A.P.R., L.A., S.Z., M.A.S.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL.
- Correspondence
Dr. Saporta mas638{at}med.miami.edu
Article usage
Cited By...
Letters: Rapid online correspondence
REQUIREMENTS
You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.
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
Dr. Babak Hooshmand and Dr. David Smith
► Watch
Related Articles
- No related articles found.
Topics Discussed
Alert Me
Recommended articles
-
Article
Genetic heterogeneity of motor neuropathiesBoglarka Bansagi, Helen Griffin, Roger G. Whittaker et al.Neurology, March 01, 2017 -
Article
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndromeRoger G. Whittaker, David N. Herrmann, Boglarka Bansagi et al.Neurology, October 30, 2015 -
Article
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromesStéphanie Bauché, Alain Sureau, Damien Sternberg et al.Neurology: Genetics, December 03, 2020 -
Article
Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposisJose Velilla, Michael Mario Marchetti, Agnes Toth-Petroczy et al.Neurology: Genetics, March 07, 2019