Skip to main content
Advertisement
  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Education
    • Genetics
    • Neuroimmunology & Neuroinflammation
  • Online Sections
    • Neurology Video Journal Club
    • Diversity, Equity, & Inclusion (DEI)
    • Neurology: Clinical Practice Accelerator
    • Practice Buzz
    • Practice Current
    • Residents & Fellows
    • Without Borders
  • Collections
    • COVID-19
    • Disputes & Debates
    • Health Disparities
    • Infographics
    • Null Hypothesis
    • Patient Pages
    • Topics A-Z
    • Translations
    • UDDA Revision Series
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit New Manuscript
    • Submit Revised Manuscript
    • Author Center

Advanced Search

Main menu

  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Education
    • Genetics
    • Neuroimmunology & Neuroinflammation
  • Online Sections
    • Neurology Video Journal Club
    • Diversity, Equity, & Inclusion (DEI)
    • Neurology: Clinical Practice Accelerator
    • Practice Buzz
    • Practice Current
    • Residents & Fellows
    • Without Borders
  • Collections
    • COVID-19
    • Disputes & Debates
    • Health Disparities
    • Infographics
    • Null Hypothesis
    • Patient Pages
    • Topics A-Z
    • Translations
    • UDDA Revision Series
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit New Manuscript
    • Submit Revised Manuscript
    • Author Center
  • Home
  • Articles
  • Issues

User menu

  • My Alerts
  • Log in

Search

  • Advanced search
Neurology Genetics
Home
A peer-reviewed clinical and translational neurology open access journal
  • My Alerts
  • Log in
Site Logo
  • Home
  • Articles
  • Issues

Share

June 2020; 6 (3) ArticleOpen Access

Genotyping single nucleotide polymorphisms for allele-selective therapy in Huntington disease

Daniel O. Claassen, Jody Corey-Bloom, E. Ray Dorsey, Mary Edmondson, Sandra K. Kostyk, Mark S. LeDoux, Ralf Reilmann, H. Diana Rosas, Francis Walker, Vicki Wheelock, View ORCID ProfileNenad Svrzikapa, Kenneth A. Longo, Jaya Goyal, Serena Hung, Michael A. Panzara
First published May 14, 2020, DOI: https://doi.org/10.1212/NXG.0000000000000430
Daniel O. Claassen
From the Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK.
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Jody Corey-Bloom
From the Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK.
MD, PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
E. Ray Dorsey
From the Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK.
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Mary Edmondson
From the Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK.
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Sandra K. Kostyk
From the Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK.
MD, PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Mark S. LeDoux
From the Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK.
MD, PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Ralf Reilmann
From the Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK.
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
H. Diana Rosas
From the Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK.
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Francis Walker
From the Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK.
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Vicki Wheelock
From the Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK.
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Nenad Svrzikapa
From the Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK.
MS
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Nenad Svrzikapa
Kenneth A. Longo
From the Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK.
PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Jaya Goyal
From the Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK.
PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Serena Hung
From the Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK.
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Michael A. Panzara
From the Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK.
MD, MPH
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Full PDF
Citation
Genotyping single nucleotide polymorphisms for allele-selective therapy in Huntington disease
Daniel O. Claassen, Jody Corey-Bloom, E. Ray Dorsey, Mary Edmondson, Sandra K. Kostyk, Mark S. LeDoux, Ralf Reilmann, H. Diana Rosas, Francis Walker, Vicki Wheelock, Nenad Svrzikapa, Kenneth A. Longo, Jaya Goyal, Serena Hung, Michael A. Panzara
Neurol Genet Jun 2020, 6 (3) e430; DOI: 10.1212/NXG.0000000000000430

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
Permissions

Make Comment

See Comments

Downloads
1106

Share

  • Article
  • Figures & Data
  • Info & Disclosures
Loading

Article Figures & Data

Figures

  • Tables
  • Figure 1
    • Download figure
    • Open in new tab
    • Download powerpoint
    Figure 1 Phasing results

    HDI = high-density interval.

  • Figure 2
    • Download figure
    • Open in new tab
    • Download powerpoint
    Figure 2 Length of CAG repeats among population with HD

    The normal allele with 18 CAG repeats and the mutant allele with 43 CAG repeats were shown to be the frequently occurring genotype for HTT in the patients tested. The data did not pass the normal distribution using the Shapiro-Wilk normality test.

Tables

  • Figures
  • Table
    • Download figure
    • Open in new tab
    • Download powerpoint
    • Download figure
    • Open in new tab
    • Download powerpoint

Letters: Rapid online correspondence

No comments have been published for this article.
Comment

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.

More guidelines and information on Disputes & Debates

Compose Comment

More information about text formats

Plain text

  • No HTML tags allowed.
  • Web page addresses and e-mail addresses turn into links automatically.
  • Lines and paragraphs break automatically.
Author Information
NOTE: The first author must also be the corresponding author of the comment.
First or given name, e.g. 'Peter'.
Your last, or family, name, e.g. 'MacMoody'.
Your email address, e.g. higgs-boson@gmail.com
Your role and/or occupation, e.g. 'Orthopedic Surgeon'.
Your organization or institution (if applicable), e.g. 'Royal Free Hospital'.
Publishing Agreement
NOTE: All authors, besides the first/corresponding author, must complete a separate Publishing Agreement Form and provide via email to the editorial office before comments can be posted.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.

Vertical Tabs

You May Also be Interested in

Back to top
  • Article
    • Abstract
    • Glossary
    • Methods
    • Results
    • Discussion
    • Study funding
    • Disclosure
    • Acknowledgment
    • Appendix Authors
    • Footnotes
    • References
  • Figures & Data
  • Info & Disclosures
Advertisement

Association of Mediterranean-DASH Intervention for Neurodegenerative Delay and Mediterranean Diets With Alzheimer Disease Pathology

Dr. Babak Hooshmand and Dr. David Smith

► Watch

Related Articles

  • No related articles found.

Topics Discussed

  • Huntington's disease
  • Gene expression studies

Alert Me

  • Alert me when eletters are published

Recommended articles

  • Null Hypothesis
    Clinical manifestations of homozygote allele carriers in Huntington disease
    Esther Cubo, Saul-Indra Martinez-Horta, Frederic Sampedro Santalo et al.
    Neurology, March 13, 2019
  • Article
    Clinical manifestations of intermediate allele carriers in Huntington disease
    Esther Cubo, María A. Ramos-Arroyo, Saul Martinez-Horta et al.
    Neurology, July 08, 2016
  • Article
    Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS
    Annie Killoran, Kevin M. Biglan, Joseph Jankovic et al.
    Neurology, April 26, 2013
  • Article
    Brain structure in juvenile-onset Huntington disease
    Alexander Tereshchenko, Vincent Magnotta, Eric Epping et al.
    Neurology, April 10, 2019
Neurology Genetics: 9 (5)

Articles

  • Articles
  • Issues
  • Popular Articles

About

  • About the Journals
  • Ethics Policies
  • Editors & Editorial Board
  • Contact Us
  • Advertise

Submit

  • Author Center
  • Submit a Manuscript
  • Information for Reviewers
  • AAN Guidelines
  • Permissions

Subscribers

  • Subscribe
  • Sign up for eAlerts
  • RSS Feed
Site Logo
  • Visit neurology Template on Facebook
  • Follow neurology Template on Twitter
  • Visit Neurology on YouTube
  • Neurology
  • Neurology: Clinical Practice
  • Neurology: Education
  • Neurology: Genetics
  • Neurology: Neuroimmunology & Neuroinflammation
  • AAN.com
  • AANnews
  • Continuum
  • Brain & Life
  • Neurology Today

Wolters Kluwer Logo

Neurology: Genetics | Online ISSN: 2376-7839

© 2023 American Academy of Neurology

  • Privacy Policy
  • Feedback
  • Advertise