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Brain Sciences
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New Insights in Huntington's Disease
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New Insights in Huntington's Disease

A special issue of Brain Sciences (ISSN 2076-3425).

Deadline for manuscript submissions: closed (30 November 2018) | Viewed by 12792

Special Issue Editor

Dr. Samuel Frank

E-Mail Website
Guest Editor
Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, 330 Brookline Ave, Kirstein 228, Boston, MA 02215, USA
Interests: Huntington’s Disease, Parkinson’s Disease, Dystonia
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Huntington’s Disease (HD) is a rare, progressive and invariably fatal neurological disease. The overt and diagnosable clinical manifestations emerge when patients are commonly in their third and fourth decades, but the disease may present at any age from a pediatric to a geriatric population. The genetic mutation that leads to HD was discovered in 1993, but a cure remains elusive. However, our understanding of the disease has greatly advanced and has led to improved treatments with more therapies in development. We have made great strides in our understanding of the disease regarding pathology, brain networking, radiological findings, possible biomarkers and clinical manifestations.

The possible treatments for the symptoms of HD have progressed. There are now two FDA-approved drugs in the US with more medications under investigation. The development of therapies for HD continues to focus on symptomatic management. As our understanding of the disease improves in combination with improved technologies, new approaches to addressing the underlying disease process has moved toward clinical trials.

This Special Issue will highlight advances in the genetics, epidemiology, diagnosis and treatment of HD, including pathology, imaging, current therapies and potential future therapies. Input from physicians and allied health fields will be considered in the ethical and clinical care advances across all stages of Huntington’s Disease.

Dr. Samuel Frank
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Brain Sciences is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2200 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Huntington’s Disease
  • Chorea
  • huntingtin
  • Autosomal dominant
  • Dopamine
  • VMAT2 inhibitor
  • MRI
  • RNA

Published Papers (3 papers)

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Research

15 pages, 4581 KiB  
Article
Striatal Neurodegeneration that Mimics Huntington’s Disease Modifies GABA-induced Currents
by Jorge Flores-Hernández, Jeanette A. Garzón-Vázquez, Gustavo Hernández-Carballo, Elizabeth Nieto-Mendoza, Evelyn A. Ruíz-Luna and Elizabeth Hernández-Echeagaray
Brain Sci. 2018, 8(12), 217; https://doi.org/10.3390/brainsci8120217 - 06 Dec 2018
Viewed by 3647
Abstract
Huntington’s Disease (HD) is a degenerative disease which produces cognitive and motor disturbances. Treatment with GABAergic agonists improves the behavior and activity of mitochondrial complexes in rodents treated with 3-nitropropionic acid to mimic HD symptomatology. Apparently, GABA receptors activity may protect striatal medium [...] Read more.
Huntington’s Disease (HD) is a degenerative disease which produces cognitive and motor disturbances. Treatment with GABAergic agonists improves the behavior and activity of mitochondrial complexes in rodents treated with 3-nitropropionic acid to mimic HD symptomatology. Apparently, GABA receptors activity may protect striatal medium spiny neurons (MSNs) from excitotoxic damage. This study evaluates whether mitochondrial inhibition with 3-NP that mimics the early stages of HD, modifies the kinetics and pharmacology of GABA receptors in patch clamp recorded dissociated MSNs cells. The results show that MSNs from mice treated with 3-NP exhibited differences in GABA-induced dose-response currents and pharmacological responses that suggests the presence of GABAC receptors in MSNs. Furthermore, there was a reduction in the effect of the GABAC antagonist that demonstrates a lessening of this GABA receptor subtype activity as a result of mitochondria inhibition. Full article
(This article belongs to the Special Issue New Insights in Huntington's Disease)
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11 pages, 1106 KiB  
Article
Social Cognition and Oxytocin in Huntington’s Disease: New Insights
by Elisa Unti, Sonia Mazzucchi, Daniela Frosini, Cristina Pagni, Gloria Tognoni, Lionella Palego, Laura Betti, Fabiana Miraglia, Gino Giannaccini and Roberto Ceravolo
Brain Sci. 2018, 8(9), 161; https://doi.org/10.3390/brainsci8090161 - 26 Aug 2018
Cited by 11 | Viewed by 4015
Abstract
This study is aimed at relating social cognition in Huntington’s Disease (HD) to plasma levels of the social hormone oxytocin (OT). Indeed, HD patients commonly display reduced social skills and OT is involved in bonding behavior and improved recognition of facial emotions. Twelve [...] Read more.
This study is aimed at relating social cognition in Huntington’s Disease (HD) to plasma levels of the social hormone oxytocin (OT). Indeed, HD patients commonly display reduced social skills and OT is involved in bonding behavior and improved recognition of facial emotions. Twelve mild-symptomatic HD patients (stage II Shoulson & Fahn) and 11 gender/age matched controls (healthy controls, HC), without concurrent psychiatric disorders, were investigated at baseline (T0) for OT plasma levels and social cognition through an extensive battery of neuropsychological tests. Social cognition was also re-examined after two years (T1) in 8 of the 12 patients. Results showed a trend for reduced T0-OT levels in HD vs. HC, mean ± stardard deviation: 6.5 ± 2.4 vs. 9.9 ± 7.2 pg/mL, without reaching statistical significance. At T0, patients showed significantly lower performances than controls at the “Faux-Pas” and “Strange Stories” tests (p < 0.05; p < 0.01); a reduced perception of visual emotions (p < 0.01) and verbal stimuli (p < 0.01) was also reported, involving anger, fear, and sadness (p < 0.05; p < 0.01). Additionally, in the HD population, OT concentrations positively correlated with T1-performances at Neutral\Faux-Pas test (p < 0.05), whereas the cognitive Montreal Cognitive Assessment (MoCA) and Mini Mental State Examination (MMSE) scores positively correlated with psychosocial perception at the “Strange Stories” and Karolinska Directed Emotional Faces (KDEF) tests (p < 0.05). This study, despite its limitations, supports correlations between OT and HD social cognition, suggesting a possible therapeutic use of this hormone. More subjects and additional body tissues/fluids, such as cerebrospinal fluid, should be investigated to confirm this hypothesis. Full article
(This article belongs to the Special Issue New Insights in Huntington's Disease)
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24 pages, 3678 KiB  
Article
High and Low Levels of an NTRK2-Driven Genetic Profile Affect Motor- and Cognition-Associated Frontal Gray Matter in Prodromal Huntington’s Disease
by Jennifer A. Ciarochi, Jingyu Liu, Vince Calhoun, Hans Johnson, Maria Misiura, H. Jeremy Bockholt, Flor A. Espinoza, Arvind Caprihan, Sergey Plis, Jessica A. Turner, Jane S. Paulsen and The PREDICT-HD Investigators and Coordinators of the Huntington Study Group
Brain Sci. 2018, 8(7), 116; https://doi.org/10.3390/brainsci8070116 - 22 Jun 2018
Cited by 3 | Viewed by 4585
Abstract
This study assessed how BDNF (brain-derived neurotrophic factor) and other genes involved in its signaling influence brain structure and clinical functioning in pre-diagnosis Huntington’s disease (HD). Parallel independent component analysis (pICA), a multivariate method for identifying correlated patterns in multimodal datasets, was applied [...] Read more.
This study assessed how BDNF (brain-derived neurotrophic factor) and other genes involved in its signaling influence brain structure and clinical functioning in pre-diagnosis Huntington’s disease (HD). Parallel independent component analysis (pICA), a multivariate method for identifying correlated patterns in multimodal datasets, was applied to gray matter concentration (GMC) and genomic data from a sizeable PREDICT-HD prodromal cohort (N = 715). pICA identified a genetic component highlighting NTRK2, which encodes BDNF’s TrkB receptor, that correlated with a GMC component including supplementary motor, precentral/premotor cortex, and other frontal areas (p < 0.001); this association appeared to be driven by participants with high or low levels of the genetic profile. The frontal GMC profile correlated with cognitive and motor variables (Trail Making Test A (p = 0.03); Stroop Color (p = 0.017); Stroop Interference (p = 0.04); Symbol Digit Modalities Test (p = 0.031); Total Motor Score (p = 0.01)). A top-weighted NTRK2 variant (rs2277193) was protectively associated with Trail Making Test B (p = 0.007); greater minor allele numbers were linked to a better performance. These results support the idea of a protective role of NTRK2 in prodromal HD, particularly in individuals with certain genotypes, and suggest that this gene may influence the preservation of frontal gray matter that is important for clinical functioning. Full article
(This article belongs to the Special Issue New Insights in Huntington's Disease)
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