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
    • Neurology Future Forecasting Series
    • Null Hypothesis
    • Patient Pages
    • Topics A-Z
    • Translations
    • UDDA Revision Series
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit 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
    • Neurology Future Forecasting Series
    • Null Hypothesis
    • Patient Pages
    • Topics A-Z
    • Translations
    • UDDA Revision Series
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit Manuscript
    • Author Center
  • Home
  • Latest Articles
  • Current Issue
  • Past Issues
  • Neurology Video Journal Club
  • Residents & Fellows

User menu

  • Subscribe
  • My Alerts
  • Log in

Search

  • Advanced search
Neurology
Home
The most widely read and highly cited peer-reviewed neurology journal
  • Subscribe
  • My Alerts
  • Log in
Site Logo
  • Home
  • Latest Articles
  • Current Issue
  • Past Issues
  • Neurology Video Journal Club
  • Residents & Fellows

Share

March 01, 1999; 52 (4) Brief Communications

Spinocerebellar ataxia type 6: Evidence for a strong founder effect among German families

M. Dichgans, L. Schöls, J. Herzog, G. Stevanin, H. Weirich-Schwaiger, G. Rouleau, K. Bürk, T. Klockgether, C. Zühlke, F. Laccone, O. Riess, T. Gasser
First published March 1, 1999, DOI: https://doi.org/10.1212/WNL.52.4.849
M. Dichgans
From the Department of Neurology (Drs. Dichgans and Gasserand J. Herzog), Klinikum Groβhadern, Ludwig-Maximilians University, Munich, Germany; the Department of Neurology (Dr. Schöls), Ruhr-University, St. Josef Hospital, Bochum, Germany; INSERM U289 and Fédération de Neurologie (Dr. Stevanin), Hôpital de la Salpêtrière, Paris, France; the Department of Human Genetics (Dr. Weirich-Schwaiger), University of Innsbruck, Austria; the Center for Research in Neuroscience (Dr. Rouleau), McGill University, The Montreal General Hospital Research Institute, Canada; the Department of Neurology (Dr. Bürk), Eberhard-Karls-University, Tübingen, Germany; the Department of Neurology (Dr. Klockgether), Friedrich-Wilhelms-University, Bonn, Germany; the Department of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of Human Genetics (Dr. Laccone), Göttingen, Germany; and Molecular Human Genetics (Dr. Riess), Ruhr-University, Bochum, Germany. M.D. and L.S. contributed equally to this work.
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
L. Schöls
From the Department of Neurology (Drs. Dichgans and Gasserand J. Herzog), Klinikum Groβhadern, Ludwig-Maximilians University, Munich, Germany; the Department of Neurology (Dr. Schöls), Ruhr-University, St. Josef Hospital, Bochum, Germany; INSERM U289 and Fédération de Neurologie (Dr. Stevanin), Hôpital de la Salpêtrière, Paris, France; the Department of Human Genetics (Dr. Weirich-Schwaiger), University of Innsbruck, Austria; the Center for Research in Neuroscience (Dr. Rouleau), McGill University, The Montreal General Hospital Research Institute, Canada; the Department of Neurology (Dr. Bürk), Eberhard-Karls-University, Tübingen, Germany; the Department of Neurology (Dr. Klockgether), Friedrich-Wilhelms-University, Bonn, Germany; the Department of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of Human Genetics (Dr. Laccone), Göttingen, Germany; and Molecular Human Genetics (Dr. Riess), Ruhr-University, Bochum, Germany. M.D. and L.S. contributed equally to this work.
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
J. Herzog
From the Department of Neurology (Drs. Dichgans and Gasserand J. Herzog), Klinikum Groβhadern, Ludwig-Maximilians University, Munich, Germany; the Department of Neurology (Dr. Schöls), Ruhr-University, St. Josef Hospital, Bochum, Germany; INSERM U289 and Fédération de Neurologie (Dr. Stevanin), Hôpital de la Salpêtrière, Paris, France; the Department of Human Genetics (Dr. Weirich-Schwaiger), University of Innsbruck, Austria; the Center for Research in Neuroscience (Dr. Rouleau), McGill University, The Montreal General Hospital Research Institute, Canada; the Department of Neurology (Dr. Bürk), Eberhard-Karls-University, Tübingen, Germany; the Department of Neurology (Dr. Klockgether), Friedrich-Wilhelms-University, Bonn, Germany; the Department of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of Human Genetics (Dr. Laccone), Göttingen, Germany; and Molecular Human Genetics (Dr. Riess), Ruhr-University, Bochum, Germany. M.D. and L.S. contributed equally to this work.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
G. Stevanin
From the Department of Neurology (Drs. Dichgans and Gasserand J. Herzog), Klinikum Groβhadern, Ludwig-Maximilians University, Munich, Germany; the Department of Neurology (Dr. Schöls), Ruhr-University, St. Josef Hospital, Bochum, Germany; INSERM U289 and Fédération de Neurologie (Dr. Stevanin), Hôpital de la Salpêtrière, Paris, France; the Department of Human Genetics (Dr. Weirich-Schwaiger), University of Innsbruck, Austria; the Center for Research in Neuroscience (Dr. Rouleau), McGill University, The Montreal General Hospital Research Institute, Canada; the Department of Neurology (Dr. Bürk), Eberhard-Karls-University, Tübingen, Germany; the Department of Neurology (Dr. Klockgether), Friedrich-Wilhelms-University, Bonn, Germany; the Department of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of Human Genetics (Dr. Laccone), Göttingen, Germany; and Molecular Human Genetics (Dr. Riess), Ruhr-University, Bochum, Germany. M.D. and L.S. contributed equally to this work.
PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
H. Weirich-Schwaiger
From the Department of Neurology (Drs. Dichgans and Gasserand J. Herzog), Klinikum Groβhadern, Ludwig-Maximilians University, Munich, Germany; the Department of Neurology (Dr. Schöls), Ruhr-University, St. Josef Hospital, Bochum, Germany; INSERM U289 and Fédération de Neurologie (Dr. Stevanin), Hôpital de la Salpêtrière, Paris, France; the Department of Human Genetics (Dr. Weirich-Schwaiger), University of Innsbruck, Austria; the Center for Research in Neuroscience (Dr. Rouleau), McGill University, The Montreal General Hospital Research Institute, Canada; the Department of Neurology (Dr. Bürk), Eberhard-Karls-University, Tübingen, Germany; the Department of Neurology (Dr. Klockgether), Friedrich-Wilhelms-University, Bonn, Germany; the Department of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of Human Genetics (Dr. Laccone), Göttingen, Germany; and Molecular Human Genetics (Dr. Riess), Ruhr-University, Bochum, Germany. M.D. and L.S. contributed equally to this work.
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
G. Rouleau
From the Department of Neurology (Drs. Dichgans and Gasserand J. Herzog), Klinikum Groβhadern, Ludwig-Maximilians University, Munich, Germany; the Department of Neurology (Dr. Schöls), Ruhr-University, St. Josef Hospital, Bochum, Germany; INSERM U289 and Fédération de Neurologie (Dr. Stevanin), Hôpital de la Salpêtrière, Paris, France; the Department of Human Genetics (Dr. Weirich-Schwaiger), University of Innsbruck, Austria; the Center for Research in Neuroscience (Dr. Rouleau), McGill University, The Montreal General Hospital Research Institute, Canada; the Department of Neurology (Dr. Bürk), Eberhard-Karls-University, Tübingen, Germany; the Department of Neurology (Dr. Klockgether), Friedrich-Wilhelms-University, Bonn, Germany; the Department of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of Human Genetics (Dr. Laccone), Göttingen, Germany; and Molecular Human Genetics (Dr. Riess), Ruhr-University, Bochum, Germany. M.D. and L.S. contributed equally to this work.
MD, PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
K. Bürk
From the Department of Neurology (Drs. Dichgans and Gasserand J. Herzog), Klinikum Groβhadern, Ludwig-Maximilians University, Munich, Germany; the Department of Neurology (Dr. Schöls), Ruhr-University, St. Josef Hospital, Bochum, Germany; INSERM U289 and Fédération de Neurologie (Dr. Stevanin), Hôpital de la Salpêtrière, Paris, France; the Department of Human Genetics (Dr. Weirich-Schwaiger), University of Innsbruck, Austria; the Center for Research in Neuroscience (Dr. Rouleau), McGill University, The Montreal General Hospital Research Institute, Canada; the Department of Neurology (Dr. Bürk), Eberhard-Karls-University, Tübingen, Germany; the Department of Neurology (Dr. Klockgether), Friedrich-Wilhelms-University, Bonn, Germany; the Department of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of Human Genetics (Dr. Laccone), Göttingen, Germany; and Molecular Human Genetics (Dr. Riess), Ruhr-University, Bochum, Germany. M.D. and L.S. contributed equally to this work.
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
T. Klockgether
From the Department of Neurology (Drs. Dichgans and Gasserand J. Herzog), Klinikum Groβhadern, Ludwig-Maximilians University, Munich, Germany; the Department of Neurology (Dr. Schöls), Ruhr-University, St. Josef Hospital, Bochum, Germany; INSERM U289 and Fédération de Neurologie (Dr. Stevanin), Hôpital de la Salpêtrière, Paris, France; the Department of Human Genetics (Dr. Weirich-Schwaiger), University of Innsbruck, Austria; the Center for Research in Neuroscience (Dr. Rouleau), McGill University, The Montreal General Hospital Research Institute, Canada; the Department of Neurology (Dr. Bürk), Eberhard-Karls-University, Tübingen, Germany; the Department of Neurology (Dr. Klockgether), Friedrich-Wilhelms-University, Bonn, Germany; the Department of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of Human Genetics (Dr. Laccone), Göttingen, Germany; and Molecular Human Genetics (Dr. Riess), Ruhr-University, Bochum, Germany. M.D. and L.S. contributed equally to this work.
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
C. Zühlke
From the Department of Neurology (Drs. Dichgans and Gasserand J. Herzog), Klinikum Groβhadern, Ludwig-Maximilians University, Munich, Germany; the Department of Neurology (Dr. Schöls), Ruhr-University, St. Josef Hospital, Bochum, Germany; INSERM U289 and Fédération de Neurologie (Dr. Stevanin), Hôpital de la Salpêtrière, Paris, France; the Department of Human Genetics (Dr. Weirich-Schwaiger), University of Innsbruck, Austria; the Center for Research in Neuroscience (Dr. Rouleau), McGill University, The Montreal General Hospital Research Institute, Canada; the Department of Neurology (Dr. Bürk), Eberhard-Karls-University, Tübingen, Germany; the Department of Neurology (Dr. Klockgether), Friedrich-Wilhelms-University, Bonn, Germany; the Department of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of Human Genetics (Dr. Laccone), Göttingen, Germany; and Molecular Human Genetics (Dr. Riess), Ruhr-University, Bochum, Germany. M.D. and L.S. contributed equally to this work.
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
F. Laccone
From the Department of Neurology (Drs. Dichgans and Gasserand J. Herzog), Klinikum Groβhadern, Ludwig-Maximilians University, Munich, Germany; the Department of Neurology (Dr. Schöls), Ruhr-University, St. Josef Hospital, Bochum, Germany; INSERM U289 and Fédération de Neurologie (Dr. Stevanin), Hôpital de la Salpêtrière, Paris, France; the Department of Human Genetics (Dr. Weirich-Schwaiger), University of Innsbruck, Austria; the Center for Research in Neuroscience (Dr. Rouleau), McGill University, The Montreal General Hospital Research Institute, Canada; the Department of Neurology (Dr. Bürk), Eberhard-Karls-University, Tübingen, Germany; the Department of Neurology (Dr. Klockgether), Friedrich-Wilhelms-University, Bonn, Germany; the Department of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of Human Genetics (Dr. Laccone), Göttingen, Germany; and Molecular Human Genetics (Dr. Riess), Ruhr-University, Bochum, Germany. M.D. and L.S. contributed equally to this work.
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
O. Riess
From the Department of Neurology (Drs. Dichgans and Gasserand J. Herzog), Klinikum Groβhadern, Ludwig-Maximilians University, Munich, Germany; the Department of Neurology (Dr. Schöls), Ruhr-University, St. Josef Hospital, Bochum, Germany; INSERM U289 and Fédération de Neurologie (Dr. Stevanin), Hôpital de la Salpêtrière, Paris, France; the Department of Human Genetics (Dr. Weirich-Schwaiger), University of Innsbruck, Austria; the Center for Research in Neuroscience (Dr. Rouleau), McGill University, The Montreal General Hospital Research Institute, Canada; the Department of Neurology (Dr. Bürk), Eberhard-Karls-University, Tübingen, Germany; the Department of Neurology (Dr. Klockgether), Friedrich-Wilhelms-University, Bonn, Germany; the Department of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of Human Genetics (Dr. Laccone), Göttingen, Germany; and Molecular Human Genetics (Dr. Riess), Ruhr-University, Bochum, Germany. M.D. and L.S. contributed equally to this work.
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
T. Gasser
From the Department of Neurology (Drs. Dichgans and Gasserand J. Herzog), Klinikum Groβhadern, Ludwig-Maximilians University, Munich, Germany; the Department of Neurology (Dr. Schöls), Ruhr-University, St. Josef Hospital, Bochum, Germany; INSERM U289 and Fédération de Neurologie (Dr. Stevanin), Hôpital de la Salpêtrière, Paris, France; the Department of Human Genetics (Dr. Weirich-Schwaiger), University of Innsbruck, Austria; the Center for Research in Neuroscience (Dr. Rouleau), McGill University, The Montreal General Hospital Research Institute, Canada; the Department of Neurology (Dr. Bürk), Eberhard-Karls-University, Tübingen, Germany; the Department of Neurology (Dr. Klockgether), Friedrich-Wilhelms-University, Bonn, Germany; the Department of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of Human Genetics (Dr. Laccone), Göttingen, Germany; and Molecular Human Genetics (Dr. Riess), Ruhr-University, Bochum, Germany. M.D. and L.S. contributed equally to this work.
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Full PDF
Citation
Spinocerebellar ataxia type 6: Evidence for a strong founder effect among German families
M. Dichgans, L. Schöls, J. Herzog, G. Stevanin, H. Weirich-Schwaiger, G. Rouleau, K. Bürk, T. Klockgether, C. Zühlke, F. Laccone, O. Riess, T. Gasser
Neurology Mar 1999, 52 (4) 849; DOI: 10.1212/WNL.52.4.849

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
402

Share

  • Article
  • Figures & Data
  • Info & Disclosures
Loading

This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.

Abstract

Article abstract The authors found a strong geographic cluster of spinocerebellar ataxia type 6 (SCA6) families in the Northrhine–Westfalia area, suggesting a founder effect in the German SCA6 population. Genotyping with DNA markers linked to the CACNL1A4 gene on chromosome 19p13 revealed a common haplotype and shared allelic characteristics in the majority of German families. The observed founder effect may be related to the relative meiotic stability of CAG repeats in this type of autosomal dominant cerebellar ataxia.

  • Received June 5, 1998.
  • Accepted in final form October 31, 1998.
View Full Text

AAN Members

We have changed the login procedure to improve access between AAN.com and the Neurology journals. If you are experiencing issues, please log out of AAN.com and clear history and cookies. (For instructions by browser, please click the instruction pages below). After clearing, choose preferred Journal and select login for AAN Members. You will be redirected to a login page where you can log in with your AAN ID number and password. When you are returned to the Journal, your name should appear at the top right of the page.

Google Safari Microsoft Edge Firefox

Click here to login

AAN Non-Member Subscribers

Click here to login

Purchase access

For assistance, please contact:
AAN Members (800) 879-1960 or (612) 928-6000 (International)
Non-AAN Member subscribers (800) 638-3030 or (301) 223-2300 option 3, select 1 (international)

Sign Up
Information on how to subscribe to Neurology and Neurology: Clinical Practice can be found here 

Purchase
Individual access to articles is available through the Add to Cart option on the article page.  Access for 1 day (from the computer you are currently using) is US$ 39.00.  Pay-per-view content is for the use of the payee only, and content may not be further distributed by print or electronic means.  The payee may view, download, and/or print the article for his/her personal, scholarly, research, and educational use.  Distributing copies (electronic or otherwise) of the article is not allowed.

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
    • Methods.
    • Results.
    • Discussion.
    • Acknowledgments
    • 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

  • Founders and CAG repeatsCause or effect?

Alert Me

  • Alert me when eletters are published

Recommended articles

  • Articles
    Clinical and molecular features of spinocerebellar ataxia type 6
    G. Stevanin, A. Dürr, G. David et al.
    Neurology, November 01, 1997
  • Editorial
    Founders and CAG repeats
    Cause or effect?
    Daniel H. Geschwind et al.
    Neurology, March 01, 1999
  • Articles
    Spinocerebellar ataxia type 6
    Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion
    R. Matsumura, N. Futamura, Y. Fujimoto et al.
    Neurology, November 01, 1997
  • Brief Communications
    Clinical and MRI findings in spinocerebellar ataxia type 5
    Giovanni Stevanin, Alexandra Herman, Alexis Brice et al.
    Neurology, October 01, 1999
Neurology: 101 (13)

Articles

  • Ahead of Print
  • Current Issue
  • Past Issues
  • Popular Articles
  • Translations

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
  • Activate a Subscription
  • 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 | Print ISSN:0028-3878
Online ISSN:1526-632X

© 2023 American Academy of Neurology

  • Privacy Policy
  • Feedback
  • Advertise