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
Objective: To describe a second family with benign hereditary chorea (BCH, OMIM 118700) and suggestive linkage to chromosome 14q. BCH is an autosomal dominant disorder of early onset that differs from Huntington disease in being nondementing and nonprogressive without other neurologic signs. There has been controversy regarding the existence of BCH as a discrete disorder.
Background: A single kindred was recently reported with linkage of BCH to a 20.6-KcM region on chromosome 14q.
Methods: In a four-generation family with BCH, linkage was evaluated to markers in a 23-KcM region between D14S49 and D14S66 that contains the putative BCH locus.
Results: A multipoint nonparametric lod score of 3.01 is consistent with linkage of disease in this family to the 14q BCH locus. A recombination event in one affected individual enabled the critical region to be narrowed to 6.93 KcM flanked by D14S1068 and D14S1064. This region contains two candidate genes: glial maturation factor beta and guanosine triphosphate cyclohydrolase 1 (GCH1). Survival motor neuron (SMN) interacting protein-1 is eliminated as a candidate gene because it lies outside the critical region. No sequence alteration was identified in the coding region of GCH1 in an affected individual.
Conclusion: These data provide further evidence that BCH is a distinct entity, narrow the location of BCH to a 6.93-KcM region on chromosome 14q, and exclude SMN interacting protein-1 as a candidate gene.
- Received January 11, 2001.
- Accepted March 10, 2001.
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.
AAN Non-Member Subscribers
Purchase access
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.
