Journal of Huntington’s Disease

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ISSN print
ISSN online
10; 4 issues
Last issue (10:2) online on 11 June 2021
Next issue
10:3 scheduled for September 2021
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Biochemistry, Medicine & Health, Neurosciences, Neurosciences
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COVID-19 Statement – The current COVID-19 crisis is affecting many lives, and also research initiatives. We appreciate the efforts of our editors, authors, and reviewers working on our journal at this difficult time. See the full Journal of Huntington's Disease (JHD) COVID-19 statement here.

Social Media & Sign Ups
: JHD is on Facebook and Twitter, with social media editor Lauren Byrne at the helm. Be sure to follow us and be part of the conversation! If you do not already receive the JHD newsletter, we invite you to sign up to receive notification of new JHD issues, plus other related news. 
Sign up via this link & you can read the latest newsletter here

Clinical Trials Corner: This open-access feature was launched in 2017 (JHD 6:3, Sept 2017), with Drs. Edward Wild and Filipe Rodrigues as editors of this section. Read the first instalment here – one of the top 10 most viewed JHD articles of 2017 – or click on the visual on the left for the latest instalment (in JHD 9:2). If you know of any Huntington Disease Clinical Trials that have not been featured, feel free to get in touch

Indexing: Journal of Huntington's Disease is included in PubMed (MEDLINE), the largest component of PubMed. MEDLINE is searchable for free using PubMed at Citations and abstracts for articles published in JHD are listed going back to Volume 1/Number 1.

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
The University of British Columbia
Vancouver, BC, Canada

Leslie M. Thompson, PhD
University of California
Irvine, CA, USA

Editor for Reviews

Marian DiFiglia
Massachusetts General Hospital Charlestown, Boston, USA

Associate Editors for Reviews

Flaviano Giorgini
University of Leicester, Leicester, United Kingdom

Ai Yamamoto
Columbia University, New York, USA

Associate Editor for Clinical Trials Corner

Edward Wild
UCL Institute of Neurology, London, United Kingdom

Associate Editors

Karen E. Anderson
MedStar Georgetown University Hospital & Georgetown University Medical Center, Washington, USA

Neil Aronin
University of Massachusetts Medical School, Worcester, USA

Lu Boxun
School of Life Sciences, Fudan University, Shanghai, China

Jang-Ho Cha 
Merck, North Wales, USA

David Craufurd
The University of Manchester, Manchester, United Kingdom

Alexandra Durr
Université Pierre et Marie Curie, Paris, France

Lisa M. Ellerby
Buck Institute for Research on Aging, Novato, USA

Samuel Frank
Beth Israel Deaconess Medical Center, Boston, USA

Anthony Hannan
The University of Melbourne, VIC, Australia

Lesley Jones
Cardiff University, Cardiff, UK

Kimberly B. Kegel-Gleason
MassGeneral Institute for Neurodegeneration (MIND), Harvard Medical School-MGH, Charlestown, MA, USA

Doug Langbehn
University of Iowa Hospital & Clinic, Iowa, USA

Michael Levine
University of California, Los Angeles, USA

Cynthia McMurray
Lawrence Berkeley National Laboratory, Life Sciences Division, Berkeley, CA, USA

Martha A. Nance
Struthers Parkinson's Center, Golden Valley, USA

Hoa Huu Phuc Nguyen
Ruhr University, Bochum, Germany

Asa Petersen
Lund University, Lund, Sweden

Mahmoud A. Pouladi
National University of Singapore, and Agency for Science, Technology and Research, Singapore

Oliver Quarrell
Sheffield Clinical Genetics Department, Sheffield Children's Hospital, Sheffield, United Kingdom

Lori Quinn
Department of Biobehavioral Studies, Teachers College, Columbia University, New York, NY, USA

Lynn Raymond
University of British Columbia, Vancouver, Canada

Ralf Reilmann
George-Huntington-Institute, Münster, University of Münster, University of Tübingen, Germany

Christopher A. Ross 
Johns Hopkins University, Baltimore, USA

Carsten Saft
St. Josef Hospital, Bochum, Germany

Frédéric Saudou 
Institut Curie, Paris, France

Julie Stout
Monash University, Victoria, Australia

Sarah Tabrizi
University College London, London, United Kingdom

X. William Yang
David Geffen School of Medicine at UCLA, Los Angeles, CA, USA

Anne B. Young 
Massachusetts General Hospital, Boston, USA

Scott O. Zeitlin
University of Virginia School of Medicine, Charlottesville, USA

Social Media Editor

Lauren Byrne
UCL Institute of Neurology, London, United Kingdom

Managing Editor

Bethany Kumar
Case Western Reserve University, Cleveland, USA

Editorial Board

Nick Allen
Cardiff School of Biosciences, Cardiff, United Kingdom

Roger A. Barker
University of Cambridge, Cambridge, United Kingdom

Gillian P. Bates
Kings College London, London, United Kingdom

M. Flint Beal
Weill Medical College of Cornell University, New York, USA

Ilya Bezprozvanny
University of Texas Southwestern Medical School, Dallas, USA

Kevin M. Biglan
University of Rochester Medical Center, Rochester, USA

Juan Botas
Baylor College of Medicine, Houston, USA

Patrik Brundin
Van Andel Research Institute, Grand Rapids, USA

Josep M. Canals
University of Barcelona, Barcelona, Spain

Jeff Carroll
Western Washington University, Bellingham, USA

Elena Cattaneo
Universita degli Studi di Milano, Milan, Italy

Marie-Francoise Chesselet
University of California, Los Angeles, USA

Jody Corey-Bloom
University of California, San Diego, USA

Merit Cudkowicz
Massachusetts General Hospital, Boston, USA

Beverly Davidson
The University of Iowa, Iowa City, USA

Ray Dorsey
University of Rochester Medical Center, Rochester, NY, USA

Wenzhen Duan
Johns Hopkins University, Baltimore, USA

Richard Faull
University of Auckland, Grafton, New Zealand

Andrew Feigin
NYU Langone Health, New York, USA

Joaquim Ferreira
Instituto de Farmacologia e Terapêutica Geral, Lisbon, Portugal

Steven Finkbeiner
University of California, San Francisco, USA

Nellie Georgiou-Karistianis
Monash University, Victoria, Australia

Michelle Gray
The University of Alabama at Birmingham, Birmingham, USA

James F. Gusella
Massachusetts General Hospital, Boston, USA

Mark Guttman
Centre for Movement Disorders, Toronto, ON, Canada

Michael Hayden
Centre for Molecular Medicine and Therapeutics, Vancouver, Canada

Steven M. Hersch
Massachusetts General Hospital, Boston, USA

David E. Housman
Koch Institute at MIT, Cambridge, USA

Carl D. Johnson
Hereditary Disease Foundation, Broadway, USA

Aleksey G. Kazantsev
Massachusetts General Hospital, Boston, USA

Ron R. Kopito
Stanford University School of Medicine, Stanford, USA

Dimitri Krainc
Northwestern University, Chicago, IL, USA

G. Bernhard Landwehrmeyer
Universitätsklinik Ulm, Ulm, Germany

Albert La Spada
University of California, San Diego, USA

Ruth Luthi-Carter
University of Leicester, Leicester, United Kingdom

Marcy MacDonald
Massachusetts General Hospital, Boston, USA

J. Lawrence Marsh
University of California, Irvine, USA

Wayne Martin
University of Alberta, Edmonton, AB, Canada

Mark Mattson
NIA, NIH, Bethesda, USA

Diane Merry
Thomas Jefferson University, Pennsylvania, USA

Anne Messer
University of Albany, New York, USA

Gerardo Morfini
University of Illinois at Chicago, Chicago, USA

Jenny Morton
University of Cambridge, Cambridge, United Kingdom

Richard H. Myers
Boston University, Boston, USA

Peg Nopoulos
University of Iowa Carver College of Medicine, Iowa City, USA

Nobuyuki Nukina
Doshisha University Graduate School of Brain Science, Kyoto, Japan

Jane S. Paulsen
University of Iowa, Iowa City, USA

Henry Paulson
University of Michigan Health System, Ann Arbor, USA

Anna C. Pfalzer
Vanderbilt University Medical Center, Nashville, USA

Laura Ranum
University of Florida, Gainesville, USA

Raj Ratan
Burke Rehabilitation Hospital, White Plains, USA

Anton Reiner
The University of Tennessee Health Science Center, Memphis, USA

Eric Reits
University of Amsterdam, Amsterdam, The Netherlands

Raymund Roos
Leiden University Medical Center, Leiden, Netherlands

Diana Rosas
Massachusetts General Hospital, Boston, USA

Adam Rosenblatt
Virginia Commonwealth University Medical Center, Richmond, USA

Anne Rosser
Cardiff University, Cardiff, United Kingdom

Ira Shoulson 
Georgetown University, Washington DC, USA

Andrew Singleton
NIH, Bethesda, USA

Amber L. Southwell
University of Central Florida, Orlando, FL, USA

Ferdinando Squitieri
IRCCS Casa Sollievo della Sofferenza Hospital and LIRH Foundation, Rome, Italy

Joan S. Steffan
University of California, Irvine, USA

Erin Furr Stimming
University of Texas Health Science Center, Houston, USA

Victor Sung
University of Alabama, Birmingham, USA

Jean-Paul Vonsattel
Columbia University, New York, USA

Judith R. Walters
NIH, Bethesda, USA

Erich Wanker
Max Delbrueck Center for Molecular Medicine, Berlin, Germany

Alice Wexler
University of California, Los Angeles, USA

Nancy Wexler
Columbia University, New York, USA

Vanessa Wheeler
Massachusetts General Hospital, Boston, USA

X. William Yang
University of California, Los Angeles, USA

George Yohrling
Huntington's Disease Society of America, New York, USA




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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 Authors will be informed in writing of the result of their appeal.


Research Reports

Organization and style of presentation
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Title page

  • Title (should be clear, descriptive and concise).
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The abstract should try to be no longer than 250 words.
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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:
[1] 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.
[2] Murray PR, Rosenthal KS, Kobayashi GS, Pfaller MA. Medical microbiology. 4th ed. St. Louis: Mosby; 2002.
[3] Berkow R, Fletcher AJ, editors. The Merck manual of diagnosis and therapy. 16th ed. Rahway (NJ): Merck Research Laboratories; 1992.
[4] 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.
[5] Canadian Cancer Society [homepage on the Internet]. Toronto: The Society; 2006 [updated 2006 May 12; cited 2006 Oct 17]. Available from:
[6] 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.
[7] 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.

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Number the figures according to their sequence in the text. The text should include references to all figures.
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Supplementary Material
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.

Review Articles
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.

Short Communications
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
Book reviews should be 750 words or less and without sections. Suggestions can be proposed to the Editors-in-Chief.

Section: Controversies
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 to assess the topic, before submitting manuscripts.

Section: Correspondence
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 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


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.
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- 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.

In manuscript:
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. 

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Autophagy May Be the Key to Finding Treatments for Early Huntington’s Disease

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....

Taming the Huntington’s Disease Proteome: Mass Spectrometry May Provide Answers

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....

New Evidence: Effects of Huntington’s Disease Mutation May Begin in Childhood

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. ...

The Right Mouse Model Is Crucial for Huntington’s Disease Drug Development

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....

Huntington’s Disease Patients Need Better Understanding of Risks and Benefits of Clinical Trials

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....

Q-Suite Motor Assessment Tool Promising for Evaluating Huntington's Disease Therapies in Children

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....

Stem Cell Research Leads to Insights Into How Huntington's Disease Develops

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....

When Designing Clinical Trials for Huntington’s Disease, First Ask the Experts: The Patients

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....

Expert-Based Clinical Guidelines Focus on Behavioral Symptoms in Huntington’s Disease

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....

2017 Neuroscience & Neurology brochure available

06 Jun 2017 - IOS Press Neuroscience & Neurology brochure...

What Matters Most to Huntington’s Disease Patients? New Survey

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. ...

New Neuroscience & Neurology Brochure Available

01 Apr 2016 - Journals and Books...

Eleven IOS Press journals selected for ESCI

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. ...

2014 Neuroscience Neurology Brochure

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. ...

Leading Researchers Report on the Elusive Search for Biomarkers in 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....

Large Animal Models of Huntington’s Disease Offer New and Promising Research Options

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....

Cell Loss in the Brain Relates to Variations in Individual Symptoms in Huntington’s Disease

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. ...

2013 Neuroscience Neurology Brochure

27 Nov 2012 - Download the 2013 Neuroscience Neurology Brochure here. ...

Well-known Author and Historian Reports on Progress in Huntington’s Therapies

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....

Device Implanted in Brain Has Therapeutic Potential for Huntington’s 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. ...

New Studies Hint at Possible Approaches to Protect Those at Risk for Huntington’s Disease

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....