Nicole Pizzorni, Andrea Ciammola, Chiara Pirola, Lorenzo Nanetti, Anna Castaldo, Barbara Poletti, Caterina Mariotti, Antonio Schindler
BACKGROUND: Oropharyngeal dysphagia (OD) is a common symptom in Huntington's disease (HD) and is associated with severe health and psychosocial consequences. Different OD phenotypes are defined on the basis of characteristic patterns at fiberoptic endoscopic evaluation of swallowing (FEES), and they may vary during disease progression. OBJECTIVE: To describe OD phenotypes in different HD stages and to analyze their association with neurological data and tongue pressure measurements...
May 28, 2024: Journal of Huntington's Disease
Louis Salaun, Thomas Bonduelle, Imad Ghorayeb, Umberto Spampinato, Sabrina Debruxelles, Dominique Guehl, Cyril Goizet
Huntington's disease (HD) is a rare neurodegenerative disorder with a distinct phenotype, including involuntary movements, cognitive decline, and behavioral disturbances. Sleep disorder include insomnia, increased sleep onset latency, decrease in total sleep time with frequent nocturnal awakenings and excessive daytime sleepiness. Increased sleep motor activities and abnormal nocturnal agitation have been increasingly recognized as an important component affecting negatively the sleep quality. Here, we report a case of an intensification of diurnal choreic movement during the night, notably during REM-sleep in a patient with manifest HD...
May 18, 2024: Journal of Huntington's Disease
Nicola Z Hobbs, Marina Papoutsi, Aline Delva, Kirsi M Kinnunen, Mitsuko Nakajima, Koen Van Laere, Wim Vandenberghe, Priyantha Herath, Rachael I Scahill
 Neuroimaging is increasingly being included in clinical trials of Huntington's disease (HD) for a wide range of purposes from participant selection and safety monitoring, through to demonstration of disease modification. Selection of the appropriate modality and associated analysis tools requires careful consideration. On behalf of the EHDN Imaging Working Group, we present current opinion on the utility and future prospects for inclusion of neuroimaging in HD trials. Covering the key imaging modalities of structural-, functional- and diffusion- MRI, perfusion imaging, positron emission tomography, magnetic resonance spectroscopy, and magnetoencephalography, we address how neuroimaging can be used in HD trials to: 1) Aid patient selection, enrichment, stratification, and safety monitoring; 2) Demonstrate biodistribution, target engagement, and pharmacodynamics; 3) Provide evidence for disease modification; and 4) Understand brain re-organization following therapy...
May 17, 2024: Journal of Huntington's Disease
Luis A Sierra, Amy Wynn, Ella Lanzaro, Katya Dzekon, Aine Russell, Mark Halko, Daniel O Claassen, Samuel Frank, Ciaran M Considine, Simon Laganiere
BACKGROUND: Huntington's disease (HD) is a neurodegenerative disorder marked by cognitive impairment, movement abnormalities, and behavioral disturbances. The Stroop Color Word Test (SCWT) is a widely used tool to detect cognitive decline in HD. Variations in SCWT formats-horizontal (original) and vertical (Golden)-may influence performance, given HD's impact on cognitive and oculomotor abilities. OBJECTIVE: This study aimed to compare the effectiveness of the horizontal and Golden vertical SCWT formats in detecting cognitive decline in HD, and to determine how performance may have been influenced by eye movement abnormalities...
May 11, 2024: Journal of Huntington's Disease
Ali Khoshnan
Huntingtin (HTT) protein is expressed in most cell lineages, and the toxicity of mutant HTT in multiple organs may contribute to the neurological and psychiatric symptoms observed in Huntington's disease (HD). The proteostasis and neurotoxicity of mutant HTT are influenced by the intracellular milieu and responses to environmental signals. Recent research has highlighted a prominent role of gut microbiota in brain and immune system development, aging, and the progression of neurological disorders. Several studies suggest that mutant HTT might disrupt the homeostasis of gut microbiota (known as dysbiosis) and impact the pathogenesis of HD...
May 9, 2024: Journal of Huntington's Disease
Karen E Anderson, Lakshmi Arbatti, Abhishek Hosamath, Andrew Feigin, Jody Goldstein, Elise Kayson, Brett L Kinsler, Lauren Falanga, Lynn Denise, Noelle E Carlozzi, Samuel Frank, Katie Jackson, Sandra Kostyk, Jennifer L Purks, Kenneth P Serbin, Shari Kinel, Christopher A Beck, Ira Shoulson
BACKGROUND: Direct-to-participant online reporting facilitates the conduct of clinical research by increasing access and clinically meaningful patient engagement. OBJECTIVE: We assessed feasibility of online data collection from adults with diagnosed Huntington's disease (HD) who directly reported their problems and impact in their own words. METHODS: Data were collected online from consenting United States residents who self-identified as 1) having been diagnosed with Huntington's disease, 2) able to ambulate independently, and 3) self-sufficient for most daily needs...
April 30, 2024: Journal of Huntington's Disease
Mayke Oosterloo, Alexiane Touze, Lauren M Byrne, Jannis Achenbach, Hande Aksoy, Annabelle Coleman, Dawn Lammert, Martha Nance, Peggy Nopoulos, Ralf Reilmann, Carsten Saft, Helen Santini, Ferdinando Squitieri, Sarah Tabrizi, Jean-Marc Burgunder, Oliver Quarrell
 Juvenile Huntington's disease (JHD) is rare. In the first decade of life speech difficulties, rigidity, and dystonia are common clinical motor symptoms, whereas onset in the second decade motor symptoms may sometimes resemble adult-onset Huntington's disease (AOHD). Cognitive decline is mostly detected by declining school performances. Behavioral symptoms in general do not differ from AOHD but may be confused with autism spectrum disorder or attention deficit hyperactivity disorder and lead to misdiagnosis and/or diagnostic delay...
April 26, 2024: Journal of Huntington's Disease
Karlijne W Geijtenbeek, Angela Santiago Aranda, Alicia Sanz Sanz, Jolien Janzen, Aleksandra E Bury, Suzan Kors, Nur Al Amery, Nina C M Schmitz, Eric A J Reits, Sabine Schipper-Krom
BACKGROUND: Huntington's disease is an inheritable autosomal dominant disorder caused by an expanded CAG trinucleotide repeat within the Huntingtin gene, leading to a polyglutamine (polyQ) expansion in the mutant protein. OBJECTIVE: A potential therapeutic approach for delaying or preventing the onset of the disease involves enhancing the degradation of the aggregation-prone polyQ-expanded N-terminal mutant huntingtin (mHTT) exon1 fragment. A few proteases and peptidases have been identified that are able to cleave polyQ fragments with low efficiency...
April 16, 2024: Journal of Huntington's Disease
Abigail L B Snow, Abagail E Ciriegio, Kelly H Watson, Anna C Pfalzer, Spencer Diehl, Lisa Hale, Katherine E McDonell, Daniel O Claassen, Bruce E Compas
BACKGROUND: Huntington's disease (HD) is a neurodegenerative disease that presents families with significant numbers of stressful events. However, relatively little empirical research has characterized the stressors encountered by members of HD-affected families and their correlations with psychological symptoms. OBJECTIVE: This study examined frequencies of specific stressors in HD patients and at-risk individuals and the correlates of these stressors with demographics, disease characteristics, and symptoms of depression and anxiety...
April 3, 2024: Journal of Huntington's Disease
Johana Escudero-Cabarcas, Wilmar Pineda-Alhucema, Martha Martinez-Banfi, Johan E Acosta-López, Martha L Cervantes-Henriquez, Elsy Mejía-Segura, Giomar Jiménez-Figueroa, Cristian Sánchez-Barros, Pedro J Puentes-Rozo, Luz M Noguera-Machacón, Mostapha Ahmad, Moisés de la Hoz, Jorge I Vélez, Mauricio Arcos-Burgos, David A Pineda, Manuel Sánchez
BACKGROUND: People with Huntington's disease (HD) exhibit neurocognitive alterations throughout the disease, including deficits in social cognitive processes such as Theory of Mind (ToM). OBJECTIVE: The aim is to identify methodologies and ToM instruments employed in HD, alongside relevant findings, within the scientific literature of the past two decades. METHODS: We conducted a comprehensive search for relevant papers in the SCOPUS, PubMed, APA-PsyArticles, Web of Science, Redalyc, and SciELO databases...
March 22, 2024: Journal of Huntington's Disease
Annabelle Coleman, Mackenzie T Langan, Gaurav Verma, Harry Knights, Aaron Sturrock, Blair R Leavitt, Sarah J Tabrizi, Rachael I Scahill, Nicola Z Hobbs
BACKGROUND: Perivascular spaces (PVS) are fluid-filled cavities surrounding small cerebral blood vessels. There are limited reports of enlarged PVS across the grey matter in manifest Huntington's disease (HD). Little is known about how PVS morphometry in the white matter may contribute to HD. Enlarged PVS have the potential to both contribute to HD pathology and affect the distribution and success of intraparenchymal and intrathecally administered huntingtin-lowering therapies. OBJECTIVE: To investigate PVS morphometry in the global white matter across the spectrum of HD...
March 19, 2024: Journal of Huntington's Disease
Harry Knights, Annabelle Coleman, Nicola Z Hobbs, Sarah J Tabrizi, Rachael I Scahill
BACKGROUND: The Huntington's Disease Integrated Staging System (HD-ISS) defined disease onset using volumetric cut-offs for caudate and putamen derived from Freesurfer 6 (FS6). The impact of the latest software update (FS7) on volumes remains unknown. The Huntington's Disease Young Adult Study (HD-YAS) is appropriately positioned to explore differences in FS bias when detecting early atrophy. OBJECTIVE: Explore the Relationships and differences between raw caudate and putamen volumes, calculated total intracranial volumes (cTICV), and adjusted caudate and putamen volumes, from FS6 and FS7, in derived from HD-YAS...
March 15, 2024: Journal of Huntington's Disease
Haoyu Li, Radhika Desai, Norberto Quiles, Lori Quinn, Ciarán Friel
BACKGROUND: Huntington's disease (HD) is an autosomal dominant, neurodegenerative disease that involves dysfunction in the autonomic nervous system (ANS). Heart rate variability (HRV) is a valid and noninvasive measure for ANS dysfunction, yet no study has characterized HRV response to exercise in people with HD. OBJECTIVE: Characterize HRV response to exercise in individuals with HD and explore its implications for exercise prescription and cardiac dysautonomia mechanisms...
March 14, 2024: Journal of Huntington's Disease
Carlos Estevez-Fraga, Sarah J Tabrizi, Edward J Wild
In this edition of the Huntington's Disease Clinical Trials Update, we expand on the ongoing program from VICO Therapeutics and on the recently terminated VIBRANT-HD clinical trials. We also discuss updates from uniQure's AMT-130 program and PTC therapeutics' trial of PTC518 and list all currently registered and ongoing clinical trials in Huntington's disease.
March 10, 2024: Journal of Huntington's Disease
Russell G Wells, Azzam F Azzam, Amie L Hiller, Michael F Sardinia
BACKGROUND: Huntington's disease (HD) is a neurodegenerative disorder characterized by motor, cognitive, and psychiatric dysfunction caused by a mutant huntingtin protein. Compromised metabolic activity resulting from systemic administration of the mitochondrial toxin, 3-nitropropionic acid (3-NP), is known to mimic the pathology of HD and induce HD-like symptoms in rats. N-hexanoic-Tyr-Ile-(6)-amino hexanoic amide (PNB-0408), also known as Dihexa, has been shown to have neuroprotective and procognitive properties in animal models of Alzheimer's and Parkinson's diseases...
March 10, 2024: Journal of Huntington's Disease
Anna C Pfalzer, Shuhei Shiino, James Silverman, Simona G Codreanu, Stacy D Sherrod, John A McLean, Daniel O Claassen
BACKGROUND: Huntington's disease (HD) is a neurodegenerative disorder caused by expanded cytosine-adenine-guanine (CAG) repeats in the Huntingtin gene, resulting in the production of mutant huntingtin proteins (mHTT). Previous research has identified urea as a key metabolite elevated in HD animal models and postmortem tissues of HD patients. However, the relationship between disease course and urea elevations, along with the molecular mechanisms responsible for these disturbances remain unknown...
March 2, 2024: Journal of Huntington's Disease
Morgane Louessard, Michel Cailleret, Margot Jarrige, Julie Bigarreau, Sophie Lenoir, Noëlle Dufour, Maria Rey, Frédéric Saudou, Nicole Deglon, Anselme L Perrier
BACKGROUND: Mutations in the Huntingtin (HTT) gene cause Huntington's disease (HD), a neurodegenerative disorder. As a scaffold protein, HTT is involved in numerous cellular functions, but its normal and pathogenic functions during human forebrain development are poorly understood. OBJECTIVE: To investigate the developmental component of HD, with a specific emphasis on understanding the functions of wild-type and mutant HTT alleles during forebrain neuron development in individuals carrying HD mutations...
February 24, 2024: Journal of Huntington's Disease
Renee R Handley, Suzanne J Reid, Zoe Burch, Jessie C Jacobsen, Tammy Gillis, Kevin Correia, Skye R Rudiger, Clive J McLaughlin, C Simon Bawden, Marcy E MacDonald, Vanessa C Wheeler, Russell G Snell
Somatic instability of the huntingtin (HTT) CAG repeat mutation modifies age-at-onset of Huntington's disease (HD). Understanding the mechanism and pathogenic consequences of instability may reveal therapeutic targets. Using small-pool PCR we analyzed CAG instability in the OVT73 sheep model which expresses a full-length human cDNA HTT transgene. Analyses of five- and ten-year old sheep revealed the transgene (CAG)69 repeat was remarkably stable in liver, striatum, and other brain tissues. As OVT73 sheep at ten years old have minimal cell death and behavioral changes, our findings support instability of the HTT expanded-CAG repeat as being required for the progression of HD...
February 18, 2024: Journal of Huntington's Disease
Niroshan Jeyakumar, Sarah N Hilmer, Armando Teixeira-Pinto, Clement T Loy
BACKGROUND: Over one third of age of onset variation in Huntington's disease is unexplained by CAG repeat length. In Alzheimer's disease, frailty partly modulates the relationship between neuropathology and dementia. OBJECTIVE: We investigated whether a multi-domain frailty index, reflecting non-genetic factors in Huntington's disease, similarly modulates the relationship between CAG repeat length and age of onset. METHODS: We created a frailty index assessing comorbidities, substance abuse, polypharmacy, and education...
November 24, 2023: Journal of Huntington's Disease
Lis Frydenreich Hasholt
Incidence of cancer is markedly reduced in patients with the hereditary neurodegenerative polyglutamine (polyQ) diseases. We have very poor knowledge of the underlying molecular mechanisms, but the expanded polyQ sequence is assumed to play a central role, because it is common to the respective disease related proteins. The inhibition seems to take place in all kinds of cells, because the lower cancer frequency applies to nearly all types of tumors and is not related with the characteristic pathological changes in specific brain tissues...
October 27, 2023: Journal of Huntington's Disease
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