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
With the emergence of high-throughput discovery platforms, robust preclinical small-animal models, and efficient clinical trial pipelines, it is becoming possible to envision a time when the treatment of human neurologic diseases will become personalized. The emergence of precision medicine will require the identification of subgroups of patients most likely to respond to specific biologically based therapies. This stratification only becomes possible when the determinants that contribute to disease heterogeneity become more fully elucidated. This review discusses the defining factors that underlie disease heterogeneity relevant to the potential for individualized brain tumor (optic pathway glioma) treatments arising in the common single-gene cancer predisposition syndrome, neurofibromatosis type 1 (NF1). In this regard, NF1 is posited as a model genetic condition to establish a workable paradigm for actualizing precision therapeutics for other neurologic disorders.
GLOSSARY
- cAMP=
- cyclic adenosine monophosphate;
- GEM=
- genetically engineered mouse;
- GWAS=
- genome-wide association studies;
- mTOR=
- mammalian target of rapamycin;
- NF1=
- neurofibromatosis type 1;
- NSC=
- neural stem cell;
- OPG=
- optic pathway glioma;
- PA=
- pilocytic astrocytoma;
- RGC=
- retinal ganglion cell
Footnotes
Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the author, if any, are provided at the end of the article.
- Received January 28, 2014.
- Accepted in final form April 9, 2014.
- © 2014 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
If you are uploading a letter concerning an article:
You must have updated your disclosures within six months: http://submit.neurology.org
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
- Article
- Abstract
- GLOSSARY
- NF1-ASSOCIATED OPTIC PATHWAY GLIOMA
- USE OF NF1 GEM STRAINS TO UNDERSTAND NF1-OPG PATHOGENESIS
- TRANSLATING BASIC SCIENCE DISCOVERIES TO HUMAN THERAPEUTIC CLINICAL TRIALS
- NF1-OPG IS A DISEASE OF HETEROGENEITY
- CHALLENGE FOR PRECISION MEDICINE
- STUDY FUNDING
- DISCLOSURE
- ACKNOWLEDGMENT
- Footnotes
- REFERENCES
- Figures & Data
- Info & Disclosures
Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis
Dr. Robert Pitceathly and Dr. William Macken