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.
Charcot-Marie-Tooth disease type 1 A (CMT1A, OMIM #118220) and hereditary neuropathy with liability to pressure palsies (HNPP or tomaculous neuropathy, OMIM #162500) are autosomal dominantly inherited neuropathies caused by genomic rearrangements on chromosome 17p11.2-p12 containing PMP22. Heterozygous PMP22 duplications result in a peripheral neuropathy characterized by distal muscular atrophy, foot deformities, sensory deficits, and generally reduced nerve conduction velocities in the demyelinating range (CMT1A). In contrast, a heterozygous PMP22 deletion results in HNPP that is characterized by recurrent transient episodes of transient focal compressive neuropathies manifesting as weakness, sensory loss, or both, with electrophysiology showing multifocal slowing at the sites of compression.
Footnotes
↵* These authors contributed equally to this work.
↵‡ These authors contributed equally to this work.
Supplemental data at Neurology.org
Author contributions: Dr. med. Hirt: study concept and design, acquisition of data. Dr. rer. nat. Eggermann: study concept and design, analysis and interpretation. Dr. med. Hyrenbach: analysis and interpretation. Dr. med. Lambeck: analysis and interpretation. Dr. med. Busche: critical revision of the manuscript for important intellectual content. Prof. Dr. med. Dr. Fischer: critical revision of the manuscript for important intellectual content. Prof. Dr. med. Rudnik-Schöneborn: study supervision and critical revision of the manuscript for important intellectual content. Dr. med. Gaspar: study supervision and critical revision of the manuscript for important intellectual content.
Study funding: No targeted funding reported.
Disclosure: The authors report no disclosures relevant to the manuscript. Go to Neurology.org for full disclosures.
- Received August 13, 2014.
- Accepted in final form December 1, 2014.
- © 2015 American Academy of Neurology
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
Topics Discussed
Alert Me
Recommended articles
Gene dosage effects in hereditary peripheral neuropathy
Hereditary recurrent focal neuropathies
Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies
Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion