Journal of Huntington’s Disease
The Journal of Huntington's Disease is an international multidisciplinary journal to facilitate progress in understanding the genetics, molecular correlates, pathogenesis, pharmacology, diagnosis and treatment of Huntington's disease and related disorders. The journal publishes research reports, reviews, short communications, letters-to-the-editor, and will consider research that has negative findings. The journal is dedicated to providing an open forum for original research in basic science, translational research and clinical medicine that will expedite our fundamental understanding and improve treatment of Huntington's disease and related disorders.
Blair R. Leavitt, MD
Leslie M. Thompson, PhD
Editor for Reviews
Associate Editors for Reviews
Associate Editor for Clinical Trials Corner
Karen E. Anderson
Lisa M. Ellerby
Martha A. Nance
Mahmoud A. Pouladi
Christopher A. Ross
X. William Yang
Anne B. Young
Scott O. Zeitlin
Social Media Editor
Roger A. Barker
Gillian P. Bates
M. Flint Beal
Kevin M. Biglan
Josep M. Canals
James F. Gusella
Steven M. Hersch
David E. Housman
Carl D. Johnson
Aleksey G. Kazantsev
Ron R. Kopito
G. Bernhard Landwehrmeyer
Albert La Spada
J. Lawrence Marsh
Richard H. Myers
Jane S. Paulsen
Anna C. Pfalzer
Amber L. Southwell
Joan S. Steffan
Erin Furr Stimming
Judith R. Walters
X. William Yang
SUBMISSION OF MANUSCRIPT
PLEASE SUBMIT YOUR MANUSCRIPT HERE.
Submission of an article is understood to imply that the article is original and unpublished and is not being considered for publication elsewhere. Any possible conflict of interest, financial or otherwise, related to the submitted work must be clearly indicated in the manuscript.
The article type (Research paper, Review paper, Editorial, Case Report, Letter to the Editor, etc) should be clearly mentioned in the cover letter to help the editorial process.
This journal operates with single-blind peer review. If the author prefers double-blind peer review, then please submit the manuscript excluding the author listing and make sure the document is anonymized, and list the authors and affiliations only in the cover letter for the Editor.
Note that the manuscript should be uploaded as one file with tables and figures included. This file can be a Word document, a PDF, or an embedded or zip file (.rar) if separate high resolution figures or a supplemental file such as a video are also to be included with the submission (the file size maximum for a video is 25MB). If the video is too large to submit, please contact email@example.com to arrange a file transfer. For further information about submitting supplementary data click here.
Resubmissions should include the manuscript number in the cover letter. The author's replies to the reviewer comments should be included within the revised manuscript itself (at the top). The revised paper should always be a Word document.
ETHICS POLICIES AND PATIENT PERMISSIONS
Procedures involving experiments on human subjects should be in accord with the ethical standards of the Committee on Human Experimentation of the institution in which the experiments were done or in accord with the Helsinki Declaration of 1975. The author must state compliance in the cover letter and in the Methods section of the article.
Procedures involving experimentation on animal subjects should be in accord with either the guide of the institution in which the experiments were done, or with the National Research Council’s guide for the care and use of laboratory animals. The author must state compliance in the cover letter and in the Methods section of the article.
Preferably patients in figures should be unrecognizable. Authors are responsible for obtaining patient permission for use of the material from all recognizable participants in photographs, videos, or other information that may be published in the Journal or on the journal’s website. A statement that permission was granted by the patient must accompany the figure legend. Do not use study participants' names, initials, or hospital numbers anywhere in the manuscript (including figures).
PEER REVIEW POLICY
The Journal of Huntington’s Disease operates a rigorous, timely, blinded peer review process (with an option for double-blind if requested) by experts in the field. Manuscripts submitted to the Journal of Huntington’s Disease will be assessed for suitability for publication in the journal by the Editors-in-Chief. Manuscripts that are deemed unsuitable may be rejected without peer review by the Editors-in-Chief and/or the Associate Editors, and the author will be informed as soon as possible.
Manuscripts that are deemed suitable for peer review are forwarded to an Associate Editor with expertise in that area who then recruits appropriate anonymous referees (a minimum of two) for confidential review. Referee reports are then assessed by the Associate Editor, who makes a decision which is then subject to approval by the Editors-in-Chief. Once approved this decision is then conveyed to the author along with the referees’ anonymized reports.
The initial decision will be one of the following: rejection, acceptance without revision, or potentially acceptable after minor or major revisions. Revised manuscripts will be appraised by the Associate Editor, who may seek the opinion of referees (prior or new) before making a decision, which again is subject to approval of the Editors-in-Chief. Once approved, this decision is then conveyed to the author along with the anonymized referees’ reports. Once accepted, manuscripts are normally published on-line without delay and appear in the next available print issue (published quarterly).
The Editors-in-Chief have ultimate responsibility for what is published in the journal. Authors may appeal decisions by contacting the Editors-in-Chief (at firstname.lastname@example.org). Authors will be informed in writing of the result of their appeal.
PREPARATION OF MANUSCRIPTS
Organization and style of presentation
1. Manuscripts must be written in English. Authors whose native language is not English are recommended to seek the advice of a native English speaker, if possible, before submitting their manuscripts. You can also visit Peerwith. Peerwith offers a language and copyediting service to all scientists who want to publish their manuscript in scientific peer-reviewed periodicals and books.
2. Manuscripts should be double spaced throughout with wide margins (2.5cm or 1in), including the abstract and references. Every page of the manuscript, including the title page, references, tables, etc., should include a page number centered at the bottom.
3. Manuscripts should be organized in the following order with headings and subheadings typed on a separate line, without indentation.
- Title (should be clear, descriptive and concise).
- Full name(s) of author(s).
- Full affiliation(s). Delineate affiliations with lowercase letters.
- Present address of author(s), if different from affiliation.
- Running title (45 characters or less, including spaces).
- Complete correspondence address, including telephone number and email address.
- Leave the author information blank if double-blind peer review is wished for, but do include the information in the cover letter.
Changes in Authorship
When submitting the manuscript the author listing and order should be final. If any addition, deletion or rearrangement of author names in the authorship list does need to be made after submission, this can be done only before acceptance and with the Editor’s approval. To request such a change, the Editor must receive the following from the corresponding author: (1) the reason for the change in author list and (2) written confirmation from all authors, including the affected author, that they agree with the addition, removal or rearrangement.
Only in exceptional circumstances will the Editor consider the addition, deletion or rearrangement of authors after the manuscript has been accepted. While the Editor considers the request, publication of the manuscript will be suspended. If the manuscript has already been published in an issue, any requests approved by the Editor will result in an Erratum.
Abstract and Keywords
-The abstract for research papers should follow the "structured abstract" format:
The abstract should try to be no longer than 250 words.
- For other papers such as Reviews, the abstract should be clear, descriptive, and self-explanatory, and no longer than 250 words.
- Include a list of 4-10 keywords. These keywords should be terms from the MeSH database.
Materials and Methods
Acknowledgments including sources of support
Conflict of Interest
If there is no conflict of interest to declare, do still include this section and insert "The authors have no conflict of interest to report".
Authors are requested to use the Vancouver citation style. Place citations as numbers in square brackets in the text. All publications cited in the text should be presented in a list of references at the end of the manuscript. List the references in the order in which they appear in the text. Only articles published or accepted for publication should be listed in the reference list. We discourage textual references to unpublished and unavailable data. With permission, the author can reference a personal communication with name in the discussion section. If an article has a DOI, this should be provided after the page number details. The number is added after the letters 'doi'. Manuscripts will not be considered if they do not conform to the Vancouver citation guidelines.
References must be listed in Vancouver style:
 Rose ME, Huerbin MB, Melick J, Marion DW, Palmer AM, Schiding JK, et al. Regulation of interstitial excitatory amino acid concentrations after cortical contusion injury. Brain Res. 2002;935(1-2):40-6.
 Murray PR, Rosenthal KS, Kobayashi GS, Pfaller MA. Medical microbiology. 4th ed. St. Louis: Mosby; 2002.
 Berkow R, Fletcher AJ, editors. The Merck manual of diagnosis and therapy. 16th ed. Rahway (NJ): Merck Research Laboratories; 1992.
 Meltzer PS, Kallioniemi A, Trent JM. Chromosome alterations in human solid tumors. In: Vogelstein B, Kinzler KW, editors. The genetic basis of human cancer. New York: McGrawHill; 2002. p. 93-113.
 Canadian Cancer Society [homepage on the Internet]. Toronto: The Society; 2006 [updated 2006 May 12; cited 2006 Oct 17]. Available from: www.cancer.ca/.
 Tian D, Araki H, Stahl E, Bergelson J, Kreitman M. Signature of balancing selection in Arabidopsis. Proc Natl Acad Sci U S A. In press 2002.
 Fletcher D, Wagstaff CRD. Organisational psychology in elite sport: its emergence, application and future. Psychol Sport Exerc. 2009;10(4):427-34. doi:10.1016/j.psychsport.2009.03.009.
- Number according to their sequence in the text. The text should include references to all tables.
- Provide each table on a separate page of the manuscript after the references.
- Include a brief and self-explanatory title with any explanations essential to the understanding of the table given in footnotes at the bottom of the table.
- Vertical lines should not be used to separate columns. Leave some extra space between the columns instead.
- Number the figures according to their sequence in the text. The text should include references to all figures.
- Figures should preferably be formatted in TIF or EPS format. JPG is also acceptable.
- A description of the statistical treatment of error analysis should be included in the figure or legend. We discourage the use of bar graphs where possible.
- Figures should be designed with the format of JHD in mind and preferable sized as they will appear when printed. A single column of the journal is 77mm and two columns are 165mm.
- Figures should be at 300 dpi or higher and be cropped to include the figure only (no blank space). CMYK is preferred for color figures.
- On figures where a scale is needed, use bar scales to avoid problems if the figure needs to be reduced.
- Each illustration should have a brief self-explanatory legend that should be typed separately from the figure in the section of the manuscript following the tables.
- Costs for color figures in the print version of the journal are as follows: 1 figure - 650 euro; 2 figures - 900 euro; 3 figures - 1050 euro; 4 figures - 1200 euro; 5 figures - 1350 euro. Cost for each additional color figure will be 150 euro. Color figures are free in the electronic version of the journal. You may opt to send in both black/white figures for print, and color figures for the online PDF (please adjust the figure legend appropriately).
Supplementary material can be submitted with the manuscript, included within the manuscript after the Figures and Tables (or otherwise after the References). Each supplementary item should have a legend and should not exceed the file size of 10MB. Supplemental videos can be submitted separately (see top of page for submission guidelines of videos). A short description of the supplementary items should be included under the header of “Supplementary Material” within the manuscript before the “References”. Supplementary material will be made available in the format in which it was provided. Large datasets should be hosted on the author’s own or institute’s website or in an appropriate database, and should be properly cited within the manuscript.
Reviews should be authoritative and topical and provide comprehensive and balanced coverage of a timely and/or controversial issue. Reviews should be prepared as detailed above for a Research Report, omitting Introduction through Discussion, and include a conclusion.
A short communication is an article of original scholarship of unusual interest of less than 1500 words (not including references). An abstract of 100 words or less should be included with no subdivison of text into sections. References should be formatted as above. A total of two tables and/or figures are allowed.
A hypothesis article should be a balanced and insightful consideration of a topic with novel hypotheses well presented and supported. The article should be prepared as a Research Report but without Methods or Results sections.
Book reviews should be 750 words or less and without sections. Suggestions can be proposed to the Editors-in-Chief.
This will be a section with Pro and Con commentaries on a specific topic of interest to the HD community. Each author will generate a short opinion piece which will have a maximum of 1000 to 2000 words (with one figure and max 15 references) to make the basic argument. Both sets of authors will receive a copy of both articles, and will be given two weeks to generate a short (200 word max.) rebuttal prior to publication. It is recommended that unsolicited authors email a proposal letter and formal academic outline of the discussion to the Editors (at email@example.com) to assess the topic, before submitting manuscripts.
These are short letters to JHD that are either:
A). relating to a specific issue/case history in HD. Authors can submit commentaries or case reports of 1000 words or less for possible inclusion in the JHD. It is recommended that authors email a proposal letter and formal academic outline of the manuscript to the Editors (at firstname.lastname@example.org) to assess the topic, before submitting the full manuscript. Commentaries and case reports should include an abstract (100 words max) but no other subdivisions, and should not include more than 15 references and one figure or table.
B). a response to a specific article published in JHD. Inclusion in JHD will be based on editorial decision and revision may be requested. Letters relating to a previous article will be shared with the authors of the original article for possible response prior to publication. Letters should not exceed 500 words (excluding references) and should not include more than 5 references and one figure or table. A letter can be signed by no more than three authors. Submit these to email@example.com.
REMEMBER TO INCLUDE
In cover letter:
- Name, postal address, phone number and e-mail address of the corresponding author.
- Name of an Associate Editor with expertise in the area of the study (if no Associate Editor is suitable, the Editorial Office will handle the submission).
- Statement that all authors have contributed to the work, agree with the presented findings, and that the work has not been published before nor is being considered for publication in another journal.
- A list of at least 4-6 potential reviewers knowledgeable in the area of the study and potential reviewer conflicts.
- Statement that procedures involving experiments on human subjects are done in accord with the ethical standards of the Committee on Human Experimentation of the institution in which the experiments were done or in accord with the Helsinki Declaration of 1975.
- Statement that procedures involving experimentation on animal subjects are done in accord with either the guide of the institution in which the experiments were done, or with the National Research Council's guide for the care and use of laboratory animals.
- Compliance with guidelines on human experimentation as well as protocol approval by a local Institutional Review Board should be specified.
- Compliance with guidelines of animal experimentation as well as protocol approval by the Institutional Animal Care and Use Committee should be specified.
- Statement of all financial and material support for this research and any potential conflicts should also be clearly identified in the the acknowledgment and Conflict of Interest sections. If there is no Conflict-of-Interest then still add this statement.
Resubmissions should include the manuscript number and a reference that the paper is a revision. The point-by-point response to the previous reviews should be included at the top of the manuscript.
All affiliations with or financial involvement (e.g., employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, royalties) with any organization or entity with a financial interest in or in financial competition with the subject matter or materials discussed in the manuscript are completely disclosed in the letter of submission.
All financial and material support for this research and work are clearly identified in the manuscript including listing of support specified in the letter of submission that might constitute or give the appearance of influencing the findings, based on the judgment of the Editor-in-Chief in consultation with the Associate Editor handling the review of the manuscript.
PRE-PRESS AND PROOFS
Accepted articles will be placed online as "pre-press" articles two weeks after acceptance. The corresponding author will receive the PDF proof around the same time, and is asked to check this proof carefully (the publisher will execute a cursory check only). Corrections other than printer's errors should be avoided. Costs arising from excessive corrections will be charged to the authors. The pre-press file will remain as the uncorrected proof version until the article is published in an issue and the final published version replaces the pre-press file.
OPEN ACCESS MANDATES
A growing number of funding agencies now require that research articles they have funded must be made open access. This may be either by mandating deposit in repositories after an embargo period or by stipulating that research is published as open access. Publishing in this journal complies with all major funding agency requirements. Click here to discover about the IOS Press Open Library, and also to check if there are any institutional agreements that you might be eligible for.
Gold Open Access Publishing (Open Access Option)
The open access option helps authors to comply with major funder mandates. This option allows authors the choice of paying a fee to make their article publicly available on the journal’s website immediately upon publication. The publisher will also deposit the final, published version of the open access article into PubMed Central immediately upon publication. All open access articles are published under the terms of the Creative Commons Attribution Non-Commercial License.
If requested by the author, Research Councils UK (RCUK) and Wellcome Trust funded open access articles will be published under the terms of the Creative Commons Attribution License (CC BY). An extra fee applies for CC BY publications.
Green Open Access Publishing (Self-Archiving)
Authors who do not select open access publication may self-archive and post the final manuscript version on their own institution, company, or funding agency repositories immediately upon acceptance. Authors that are funded by the NIH, Research Councils UK (RCUK) and Wellcome Trust are welcome to deposit their final manuscript version to PubMed Central (Submission Method C) and Europe PubMed Central immediately upon acceptance. In all cases a publication reference and URL to the journal’s website must be provided on the first page of the manuscript.
Alternatively, the author can submit the final published PDF version of the article, which can be ordered from IOS Press. This service costs €100/US$120 and an order form will be sent with the galley proof of the article to the corresponding author. Ordered PDFs will be sent to the author after final publication of the article in an issue. IOS Press holds to no embargo period after final publication. Orders for a PDF of published articles can also be sent to firstname.lastname@example.org.
Copyright of your article
Authors submitting a manuscript do so on the understanding that they have read and agreed to the terms of the IOS Press Author Copyright Agreement.
Quoting from other publications
An author, when quoting from someone else's work or when considering reproducing figures or table from a book or journal article, should make sure that he is not infringing a copyright. Although in general an author may quote from other published works, he should obtain permission from the holder of the copyright if he wishes to make substantial extracts or to reproduce tables, plates or other figures. If the copyright holder is not the author of the quoted or reproduced material, it is recommended that the permission of the author should also be sought. Material in unpublished letters and manuscripts is also protected and must not be published unless permission has been obtained. Submission of a paper will be interpreted as a statement that the author has obtained all the necessary permission. A suitable acknowledgement of any borrowed material must always be made.
Quoting from Journal of Huntington’s Disease
Permissions for use of materials published in JHD Reports (figures, tables, thesis publication) can be requested at email@example.com.
COMPLIMENTARY COPY AND PURCHASE
The corresponding author of a contribution to the journal is entitled to receive 1 author’s copy of the pdf free of charge, unless otherwise stated. Free copies will not be provided for conference proceedings and abstract issues.
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An order form for reprints, additional journal copies or a non-watermarked pdf file will be provided along with the pdf proof.
If you wish to order reprints of an earlier published article, please contact the publisher for a quotation. IOS Press, Fax: +31 20 6870039. Email: firstname.lastname@example.org.
An author is entitled to 25 % discount on IOS Press books. See Author's Discount (25%) on all IOS Press book publications.
Authors of published articles (non-prepress, final articles) will be contacted by Kudos. Kudos is a service that helps researchers maximize the impact and visibility of their research. It allows authors to enrich their articles with lay metadata, add links to related materials and promote their articles through the Kudos system to a wider public. Authors will receive no more than three emails: one invitation and a maximum of two reminders to register for the service and link the published article to their profile. Using and registering for Kudos remains entirely optional. For more information, please have a look at our authors section.
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Web of Science: Emerging Sources Citation Index
15 Jul 2021 - Amsterdam, NL – Huntington’s Disease (HD) is a progressive neurodegenerative condition characterized by motor, cognitive, and psychiatric symptoms, and motor symptoms are often preceded by cognitive changes. Recent evidence indicates that autophagy plays a central role in synaptic maintenance, and the disruption in autophagy may be at the root of these early cognitive changes. Understanding this mechanism better may help researchers develop treatments for patients with HD early in their disease progression, report scientists in a review article published in the Journal of Huntington’s Disease....
13 Jul 2021 - Mass spectrometry has emerged as an important analytical tool for gaining a better understanding of mechanisms underlying Huntington’s disease (HD), alongside the increased availability of cell and animal models of the disease. This review, published in the Journal of Huntington’s Disease, brings together and recaps data from major published mass spectrometry studies undertaken in HD research over the last 20 years, identifying important changes that occur in HD. The authors encourage researchers to make greater use of these studies to accelerate the development of new treatments....
Insights into the Role of DNA Repair and Huntington’s Disease Gene Mutation Open New Avenues for Drug Discovery
11 Feb 2021 - Amsterdam, NL – Recent genetic data from patients with Huntington’s disease (HD) show that DNA repair is an important factor that determines how early or late the disease occurs in individuals who carry the expanded CAG repeat in the HTT gene that causes HD. The processes of DNA repair further expand the CAG repeats in HTT in the brain implicated in pathogenesis and disease progression. This special issue of the Journal of Huntington’s Disease (JHD) is a compendium of new reviews on topics ranging from the discovery of somatic CAG repeat expansion in HD, to our current understanding of the molecular mechanisms involved and the development of potential new therapies targeting these mechanisms....
06 Jan 2021 - Amsterdam, NL – There is growing evidence to support the hypothesis that there is a neurodevelopmental component to the late-onset neurodegeneration occurring in the brain of huntingtin gene (HTT gene) mutation carriers, and that this increased susceptibility to brain cell death begins during childhood. Experts discuss the evidence that the HTT gene mutation affects brain and body growth based on a unique study of children at risk for HD, the Kids-HD study, in a review paper and accompanying research article published in the Journal of Huntington’s Disease. ...
11 Dec 2019 - Amsterdam, NL – Huntington's disease (HD) is an incurable and fatal hereditary disease. Developing disease-modifying drugs to treat patients with HD depends on studying them in animal models. Scientists evaluated the mouse models used for developing new treatments for mood disorders in HD and recommended which of these models are most relevant to their studies. Their findings are published in the Journal of Huntington's Disease....
10 Dec 2019 - Amsterdam, NL – For patients with Huntington's disease (HD), clinical trials can offer hope when there are no treatments available despite unknowns about whether the therapy will work or is safe. A new study in the Journal of Huntington's Disease found that although the HD community appears highly optimistic about HD research, patients are at risk for therapeutic misconception. In order to allay patients' misgivings, investigators recommend improvements to patient-doctor communication to better convey trial goals, risks and benefits....
22 Oct 2019 - Amsterdam, NL – In clinical trials of adults with Huntington's disease (HD) the Q-Suite Motor Assessment Tool (Q-Motor) has proven to be helpful to detect and quantitate subtle motor abnormalities. With the anticipated arrival of preventive gene therapies that will most likely be administered to young children known to be carriers of the HD mutation, it is crucial to have a means to evaluate motor abilities in children that is sensitive to the child's stage of development. Promising results of a feasibility study published in the Journal of Huntington's Disease, indicate that Q-Motor can address this need....
21 Oct 2019 - Amsterdam, NL – Huntington's disease (HD) is a fatal hereditary disease for which there is no cure. A novel study from Cedars-Sinai Medical Center, Los Angeles, USA, using pluripotent stem cells advances understanding of how the disease develops and may help pave the way for identifying pathways for future treatments. Results are published in the Journal of Huntington’s Disease....
23 Apr 2019 - Amsterdam, NL – Progress in understanding the genetic mutation responsible for Huntington's disease (HD) and at least some molecular underpinnings of the disease has resulted in a new era of clinical testing of potential treatments. How best to design clinical trials in which HD patients are willing to participate and comply is a question faced by researchers. For that reason, investigators in the Perelman School of Medicine at the University of Pennsylvania (Penn) surveyed HD patients at different stages of the disease about their attitudes and treatment goals. The results, published in the Journal of Huntington's Disease, should be useful for designing future clinical trials of gene therapies for HD and other genetic disorders....
Abnormalities in a Protein Affecting How Nerve Cells Change Shape May Be Linked to Huntington's Disease
03 Apr 2019 - Amsterdam, NL – Since 1993, when the gene that causes Huntington's disease (HD) was identified, there has been intense focus on understanding how this genetic mutation causes the disease's severe progressive neural deterioration. In a new study published in the Journal of Huntington's Disease, investigators have discovered that the HD mutation may alter the interactions of Huntingtin, the large protein produced by the HD gene, with Rac1, a protein that directs changes in cell shape. In HD, this interaction may result in abnormalities in the pathway controlling neural cell shape and dendritic growth, which can affect how well nerve cells communicate with one another....
30 Jan 2019 - Amsterdam, NL – Although Huntington’s disease (HD) is traditionally thought of as a neurological disorder, behavioral symptoms are a common feature and frequently cause distress and difficulty to patients, family members, and other caregivers. Since an estimated 70% of US patients with HD do not seek specialist care, they are often treated by general practitioners, general neurologists, and psychiatrists, many of whom may not be trained to recognize or treat HD-related behavioral symptoms....
06 Jun 2017 - IOS Press Neuroscience & Neurology brochure...
23 Jan 2017 - New York, USA – Huntington’s disease (HD) has no cure and no therapies to slow the course of this fatal disease. HD patients can experience a wide range of cognitive, physical, and psychiatric symptoms. In an effort to gather the perspectives of both HD and Juvenile Huntington’s disease (JHD) patients and their caregivers, the Huntington’s Disease Society of America (HDSA), in conjunction with the U.S. Food and Drug Administration (FDA), conducted two surveys. The first assessed symptoms and their impact on daily life and the second gathered opinions about current approaches to treating HD. Insights gained as the result of these surveys are published in the current issue of the Journal of Huntington’s Disease. ...
01 Apr 2016 - Journals and Books...
29 Oct 2015 - IOS Press is delighted to announce that eleven of its journals will be included in the Emerging Sources Citation Index (ESCI), a new index to be launched by Thomson Reuters in November 2015. ...
31 Jan 2014 - Download the 2014 Neuroscience Neurology Brochure here. ...
Antisense Oligoneucleotide Corrects Striatal Transcriptional Abnormalities and Protects Function in HD Mice
26 Aug 2013 - Findings from postmortem studies of the brains of Huntington’s Disease (HD) patients suggest that transcriptional dysregulation may be an early step in the pathogenesis of HD before symptoms appear. Other studies report transcriptional alterations in the brains of some mouse models of HD. A new study has found transcriptional changes in mouse striatum which correlate with progressive motor and psychiatric deficits and, most importantly, reports for the first time, that an antisense oligonucleotide (ASO) may be used therapeutically to both correct striatal transcriptional abnormalities and improve motor and behavioral problems. The article is published in the latest issue of the Journal of Huntington’s Disease. ...
21 May 2013 - While Huntington’s disease (HD) is currently incurable, the HD research community anticipates that new disease-modifying therapies in development may slow or minimize disease progression. The success of HD research depends upon the identification of reliable and sensitive biomarkers to track disease and evaluate therapies, and these biomarkers may eventually be used as outcome measures in clinical trials. Biomarkers could be especially helpful to monitor changes during the time prior to diagnosis and appearance of overt symptomatology. Three reports in the current issue of the Journal of Huntington’s Disease explore the potential of neuroimaging, proteomic analysis of brain tissue, and plasma inflammatory markers as biomarkers for Huntington’s disease....
23 Apr 2013 - Scientific progress in Huntington’s disease (HD) relies upon the availability of appropriate animal models that enable insights into the disease’s genetics and/or pathophysiology. Large animal models, such as domesticated farm animals, offer some distinct advantages over rodent models, including a larger brain that is amenable to imaging and intracerebral therapy, longer lifespan, and a more human-like neuro-architecture. Three articles in the latest issue of the Journal of Huntington’s Disease discuss the potential benefits of using large animal models in HD research and the implications for the development of gene therapy....
07 Jan 2013 - Scientists have wrestled to understand why Huntington’s disease, which is caused by a single gene mutation, can produce such variable symptoms. An authoritative review by a group of leading experts summarizes the progress relating cell loss in the striatum and cerebral cortex to symptom profile in Huntington’s disease, suggesting a possible direction for developing targeted therapies. The article is published in the latest issue of the Journal of Huntington’s Disease. ...
27 Nov 2012 - Download the 2013 Neuroscience Neurology Brochure here. ...
26 Jun 2012 - Our understanding of the causes and mechanisms of Huntington’s disease (HD) has grown at a dramatic pace since the discovery of the genetic marker for the disease in 1983. While therapies to treat the disease lag behind these laboratory discoveries, disease altering interventions are moving closer to the clinic. In the inaugural issue of the Journal of Huntington’s Disease Alice Wexler, PhD, an authority on the history of Huntington’s disease, author, and research scholar with the UCLA Center for the Study of Women, recounts important milestones along the journey towards a treatment or cure for the disease....
19 Jun 2012 - Studies suggest that neurotrophic factors, which play a role in the development and survival of neurons, have significant therapeutic and restorative potential for neurologic diseases such as Huntington’s disease. However, clinical applications are limited because these proteins cannot easily cross the blood brain barrier, have a short half-life, and cause serious side effects. Now, a group of scientists has successfully treated neurological symptoms in laboratory rats by implanting a device to deliver a genetically engineered neurotrophic factor directly to the brain. They report on their results in the latest issue of Restorative Neurology and Neuroscience. ...
19 Jun 2012 - Two new studies published in the inaugural issue of the Journal of Huntington's Disease hint at possible approaches to protect those at risk for HD....