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.
The study by Bressman et al.1 in this issue of Neurology explores the DYT1 phenotype in both Ashkenazi Jewish (AJ) and non-Jewish (NJ) populations with primary torsion dystonia (PTD) and provides guidelines for diagnostic testing in this disorder.
PTD is a clinically and genetically heterogeneous disorder. In children and adolescents, it usually starts in one limb and progresses within 5 years to other limbs and the trunk, rarely involving craniofacial muscles.2 This clinical subtype is transmitted as an autosomal dominant trait, has a low penetrance (30 to 40%), and is usually due to a trinucleotide (GAG) deletion in the DYT1 gene on chromosome 9q34.3 This deletion results in the loss of one of a pair of glutamic acid residues in a conserved region of the C-terminal domain of a novel ATP-binding protein (torsinA).3 A single founder mutation accounts for approximately 90% of such cases in AJ, …
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.
You May Also be Interested in
Hastening the Diagnosis of Amyotrophic Lateral Sclerosis
Dr. Brian Callaghan and Dr. Kellen Quigg