Huntington's Gene Research Articles

Apathy and Impulsivity Co-Occur in Huntington's Disease.

Apathy is a debilitating behavioral change in Huntington's disease (HD), but impulsivity in HD has not been well documented, and the co-occurrence of these behaviors in HD has not been investigated. Our objective was to determine whether apathy and impulsivity co-occur in people with HD and their associations with quality of life. Carriers of Huntington's gene expansion (premanifest to mild motor manifest disease; n=42) along with healthy controls (n=20) completed measures of apathy (Apathy Evaluation Scale and Apathy Motivation Index) and impulsivity (Barratt Impulsiveness Scale-11 and UPPS-P impulsivity scale), along with mood, cognition, clinical, and quality of life measures. Apathy and impulsivity measures were each reduced to a single metric per patient using principal component analysis. Correlations and multiple linear regression models determined associations between apathy and impulsivity and the potential influence of other covariates. Apathy and impulsivity were significantly correlated (r=0.6, p<0.001, 95% CI [0.36, 0.76]) in HD, with this association remaining after controlling for depressive symptoms, motor disease severity, and cognitive function. Furthermore, apathy and depressive symptoms were associated with poorer quality of life. Apathy and impulsivity co-occur in individuals with premanifest to mild manifest HD and have a significant impact on wellbeing. We add to a growing evidence body that apathy and impulsivity may be intrinsically linked.

Huntington’s Disease: A Review of The Clinical Survey and Therapeutics Management of Neuropsychiatric Drug

Huntington disease (HD) is an autosomal neurodegenerative disease caused by the excess of CAG trinucleotide repeats in the Huntington gene (HTT). In addition to various symptoms such as chorea, movement disorders, cognitive impairment and psychosis, patients with HD may also experience behavioral and physical changes. Although there is no known cure for HD, there are many ways to try to reduce symptoms and slow the progression of the disease. Medications such as tetrabenazine and tetrabenazine target physical symptoms by reducing movement. Antidepressants and antipsychotics are also used to manage the psychotic and cognitive symptoms of HD. The purpose of this review is to discuss the effectiveness of current HD treatments and explore the progress in clinical research on emerging HD treatments.

Mitochondrial targeted antioxidants as potential therapy for huntington's disease.

Huntington's disease (HD) is an inherited neurodegenerative disorder caused by an expansion in CAG repeat on huntington (Htt) gene, leading to a degeneration of GABAergic medium spiny neurons (MSNs) in the striatum, resulting in the generation of reactive oxygen species, and decrease antioxidant activity. These pathophysiological alterations impair mitochondrial functions, leading to an increase in involuntary hyperkinetic movement. However, researchers investigated the neuroprotective effect of antioxidants using various animal models. Still, their impact is strictly limited to curtailing oxidative stress and increasing the antioxidant enzyme in the brain, which is less effective in HD. Meanwhile, researchers discovered Mitochondria-targeted antioxidants (MTAXs) that can improve mitochondrial functions and antioxidant activity through the modulation of mitochondrial signaling pathways, including peroxisome proliferator-activated receptor (PPAR)-coactivator 1 (PGC-1α), dynamin-related protein 1 (Drp1), mitochondrial fission protein 1 (Fis1), and Silent mating type information regulation 2 homolog 1 (SIRT-1), showing neuroprotective effects in HD. The present review discusses the clinical and preclinical studies that investigate the neuroprotective effect of MTAXs (SS31, XJB-5-131, MitoQ, bezafibrate, rosiglitazone, meldonium, coenzyme Q10, etc.) in HD. This brief literature review will help to understand the relevance of MTAXs in HD and enlighten the importance of MTAXs in future drug discovery and development.

An Overview of Huntington’s Disease using Machine Learning

Huntington’s disease (HD) is one of the rare neurodegenerative diseases caused because of genetic mutation of the Huntington gene and also characterized by progressive motor dysfunction, cognitive impairment, and psychiatric symptoms. Since no cure is possible and only symptomatic therapy is available, early detection and individualized therapy are guaranteed for effective disease treatment. Artificial intelligence has emerged as a transformative tool in healthcare, revolutionizing many aspects of medical practice and research, enabling the detection, monitoring and treatment of Huntington's disease. Additionally, this paper serves as a valuable resource for researchers in the field of machine learning and neurodegenerative disease detection, as well as healthcare professionals.

Diagnostic Uncertainties: Chorea.

Chorea is a hyperkinetic movement disorder with a multitude of potential etiologies, both acquired and inherited. Although the differential diagnosis for new-onset chorea is extensive, there are often clues in the history, exam, and basic testing that can help to narrow the options. Evaluation for treatable or reversible causes should take priority, as rapid diagnosis can lead to more favorable outcomes. While Huntington's disease is most common genetic cause of chorea, multiple phenocopies also exist and should be considered if Huntington gene testing is negative. The decision of what additional genetic testing to pursue should be based on both clinical and epidemiological factors. The following review provides an overview of the many possible etiologies as well as a practical approach for a patient presenting with new-onset chorea.

An in silico study to find potential effective circRNAs in the progression of Huntington's disease.

Huntington's disease (HD) is identified as a progressive genetic disorder caused by a mutation in the Huntington gene. Although the pathogenesis of this disease has not been fully understood, investigations have demonstrated the role of various genes and non-coding RNAs in the disease progression. In this study, we aimed to discover the potential promising circRNAs which can bind to miRNAs of HD. We used several bioinformatics tools such as ENCORI, Cytoscape, circBase, Knime, and Enrichr to collect possible circRNAs and then evaluate their connections with target miRNAs to reach this goal. We also found the probable relationship between parental genes of these circRNAs and the disease progress. According to the data collected, more than 370 thousand circRNA-miRNA interactions were found for 57 target miRNAs. Several of circRNAs were spliced out of parental genes involved in the etiology of HD. Some of them need to be further investigated to elucidate their role in this neurodegenerative disease. This in silico investigation highlights the potential role of circRNAs in the progression of HD and opens up new horizons for drug discovery as well as diagnostic approaches for the disease.

Pathogenesis and potential therapeutic application of stem cells transplantation in Huntington's disease.

Huntington's disease (HD) is a progressive neurodegenerative disorder which is caused due to repetitive CAG or glutamine expression along the coding region of the Huntington gene. This disease results in certain movement abnormalities, affective disturbances, dementia and cognitive impairments. To this date, there is no proper cure for this rare and fatal neurological condition but there have been certain advancements in the field of genetic animal model research studies to elucidate the understanding of the pathogenesis of this condition. Currently, HD follows a certain therapeutic approach which just relieves the symptoms but doesn't cure the underlying cause of the disease. Stem cell therapy can be a breakthrough in developing a potential cure for this condition. In this review, we have discussed the pathogenesis and the efficacy and clinical practicality of the therapeutic application of stem cell transplantation in Huntington's disease. The application of this groundbreaking therapy on genetically altered animal models has been listed and analyzed in brief.

Huntington's Disease: A Clinical Review.

The Huntington's gene on chromosome 4 has a dominantly inherited CAG trinucleotide repeat expansion, ultimately resulting in Huntington's disease (HD), a completely penetrant neurological condition. The frequency is 10-100 times higher in the population descended from Europe than in East Asia. Through various processes, including impairment of proteostasis, transcription, and cell function, as well as direct toxicity of the mutant protein, mutated huntingtin triggers neuronal malfunction and loss at the cellular level. As the disease worsens, the brain becomes affected together with the striatum's initial macroscopic alterations. Since there are presently few medications that can change the course of the disease, palliative therapy, and symptom control are the cornerstone of treatment. Studying the cellular pathology and gross structural changes to the brain which occur as the illness advances have made enormous progress in recent years. There's been a substantial increase in medical studies and possible treatment options over the past ten years. The new treatments that aim to reduce amounts of mutant huntingtin are the most optimistic. However, one strategy is antisense oligonucleotide treatment, for which clinical trials are currently being conducted. These control trials might help us get another inch ahead of managing and perhaps even eliminating this nasty disease.

What Is the Evidence for Using Anti-Epileptic Drugs to Treat Agitation and Irritability in Huntington's Disease?

AimsBackground: Huntington's disease (HD), due to the pathological expansion of CAG trinucleotide repeats within the Huntington's gene on chromosome 4p (1), is an autosomal dominant progressive neurodegenerative disease with motor, cognitive and neuropsychiatric symptoms that includes irritability and agitation in an estimated 38–73% of HD patients (2) which is characterized by impatience and a tendency to become angry in response to minimal provocation. Expert consensus recommends implementation of environmental and behavioural strategies then commencing treatment with SSRI's, Neuroleptics or Anti-Epileptic Drugs (AED) (3). No previous papers, to our knowledge, have examined the newest antiepileptic agents or have identified the most efficacious antiepileptics for this use. Aim: We present a review of the literature describing antiepileptic treatments for agitation and irritability in HD focusing on identification of the most efficacious antiepileptics and the role of newer antiepileptic agents for this use.MethodsA search in the main database sources (EMBASE, MEDLINE, Allied and Complementary medicine) was performed in order to obtain a comprehensive evaluation of available antiepileptic psychopharmacological treatments in HD for agitation and irritability.ResultsAntiepileptic (AED) agents described in consensus statements and case studies have included sodium valproate, carbamazepine and lamotrigine, which work by inhibition of voltage gated Na and Ca channels, and are often combined with antipsychotic agents for improvement of pathological mood swings and irritability. However, none of the papers identified were Level III or better.ConclusionNo specific mood stabilizing antiepileptic psychopharmacological treatment of the Psychiatric symptoms of irritability and agitation in HD was identified. Overall, the use of AED have weak evidence base with no quantifiable outcome measures, such as such as the Disruptive or Aggressive Behavior behavioural subscale of the Unified Huntington's Disease Rating Scale or the Neuropsychiatric Inventory, indicating improvement of symptoms identified. Surveys and expert opinions were based on their personal knowledge of the HD populations and the selection of the experts surveyed was not systematic which could influence the practice pattern results. The review indicates a pressing need for treatment studies to determine which psychopharmacological and behavioral treatments are most efficacious.

Anosognosia and Memory Encoding in Huntington Disease.

Anosognosia can manifest as an unawareness of neurobehavioral symptoms in individuals with Huntington disease (HD). Measurement of anosognosia is challenging, but the Anosognosia Scale (AS) represents a brief option with promising findings in small samples. To replicate application of the AS in a larger HD sample than previous studies in order to assess psychometrics and demographic correlates and to investigate the genetic, motor, and neuropsychological correlates of the AS in individuals with HD. We retrospectively reviewed the AS ratings of 74 genetically confirmed Huntington gene carriers, nearly all early motor manifest, who had been referred for clinical neuropsychological assessment. Concurrent clinical neurologic examination and neuropsychometric assessment data were compiled, where available (ns = 35-74). The severity of the anosognosia per AS ratings was characterized for the HD sample. The AS ratings did not correlate with demographic variables, genetic markers, or motor dysfunction severity. Correlation analyses revealed that higher AS ratings correlated with worse recognition-discrimination memory performance (r = 0.38, P < 0.05) but not cognitive control on executive functioning performance or on collateral-reported frontal-behavioral symptoms. Higher AS ratings also correlated with fewer patient-reported depressive symptoms (r = -0.38, P < 0.01) and diurnal hypersomnia symptoms (r = -0.44, P < 0.01). Anosognosia (per AS) is associated with recognition-discrimination deficits and fewer self-reported neuropsychiatric symptoms in individuals with pre-to-early manifest HD, though not with HD severity per genetic or motor markers, nor to executive dysfunction or collateral-reported frontal-behavioral symptoms.

Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy.

One percent of patients with a Huntington's disease (HD) phenotype do not have the Huntington (HTT) gene mutation. These are known as HD phenocopies. Their diagnosis is still a challenge. Our objective is to provide a diagnostic approach to HD phenocopies based on medical expertise and a review of the literature. We employed two complementary approaches sequentially: a review of the literature and two surveys analyzing the daily clinical practice of physicians who are experts in movement disorders. The review of the literature was conducted from 1993 to 2020, by extracting articles about chorea or HD-like disorders from the database Pubmed, yielding 51 articles, and analyzing 20 articles in depth to establish the surveys. Twenty-eight physicians responded to the first survey exploring the red flags suggestive of specific disease entities. Thirty-three physicians completed the second survey which asked for the classification of paraclinical tests according to their diagnostic significance. The analysis of the results of the second survey used four different clustering algorithms and the density-based clustering algorithm DBSCAN to classify the paraclinical tests into 1st, 2nd, and 3rd-line recommendations. In addition, we included suggestions from members of the European Reference Network-Rare Neurological Diseases (ERN-RND Chorea & Huntington disease group). Finally, we propose guidance that integrate the detection of clinical red flags with a classification of paraclinical testing options to improve the diagnosis of HD phenocopies.

Huntington's Disease Gene Hunters: An Expanding Tale.

Huntington's Disease Gene Hunters: An Expanding Tale.

Huntington's Chorea-a Rare Neurodegenerative Autosomal Dominant Disease: Insight into Molecular Genetics, Prognosis and Diagnosis.

Huntington's disease is a neurodegenerative autosomal disease results due to expansion of polymorphic CAG repeats in the huntingtin gene. Phosphorylation of the translation initiation factor 4E-BP results in the alteration of the translation control leading to unwanted protein synthesis and neuronal function. Consequences of mutant huntington (mhtt) gene transcription are not well known. Variability of age of onset is an important factor of Huntington's disease separating adult and juvenile types. The factors which are taken into account are-genetic modifiers, maternal protection i.e excessive paternal transmission, superior ageing genes and environmental threshold. A major focus has been given to the molecular pathogenesis which includes-motor disturbance, cognitive disturbance and neuropsychiatric disturbance. The diagnosis part has also been taken care of. This includes genetic testing and both primary and secondary symptoms. The present review also focuses on the genetics and pathology of Huntington's disease.

Prolong psychosis preceding cognitive and motor symptoms; an unusual presentation in Huntington's disease

ObjectiveTo describe an unusual clinical presentation of Huntington's disease.Case reportA 39-years-old married female, a homemaker, presented to the psychiatry clinic with her husband, with over a nine-year history of decreased sleep, suspiciousness, self-talking, agitation, anger outbursts, aggression, and social isolation. The patient was diagnosed with schizophrenia. Previously, she received various antipsychotics and Electroconvulsive therapy (ECT). The patient showed a partial response to treatment. Over the last 2-3 years, the patient had a progressive decline and later required supervision in her Activities of Daily Living (ADLs). She developed slurred speech limited to 1-2 worded answers, gait disturbance, falls, involuntary movements of the trunk and distal extremities, bowel and bladder incontinence, and severe weight loss. The patient's mother and older brother had a history of death in their early 40s due to an unknown cause.At presentation, the patient was restless, irritable, self-talking incoherently, neither made nor maintained eye contact and tried hitting and biting upon approaching closely. She did not respond to any queries or followed commands. The patient showed poor personal hygiene. On examination, the patient was hemodynamically stable, had a loss of muscle bulk, broad-based gait, and choreiform movements of the trunk and distal extremities. We admitted the patient to the psychiatry ward and also consulted the neurology team. Her blood investigations showed ASMA antibodies positive, MRI brain was suggestive of Huntington's disease (HD), and her genetic test for Huntington gene confirmed the diagnosis of HD. We started the patient on Fluoxetine, Clonazepam, and Olanzapine. The patient showed a decrease in agitation, and her self-talking stopped.DiscussionHD is a rare genetic disease that has well-characterized symptoms. However, as seen in our patient, these symptoms can evolve and progress unusually in the early and middle stages. Psychosis in HD patients is rare but known. Psychosis is rare in HD and usually presents after a clear clinical picture of HD is apparent. Our case discussed psychotic symptoms in the pre-choreic stage of HD which adds to the existing evidence on challenging presentations and management of HD. Further research can help increase confidence in these outcomes and treatment guidelines.ConclusionOur case highlights an unusual clinical presentation of HD, which can be challenging and lead to diagnostic delays. We recommend a thorough approach to history and revision of diagnosis in case of atypical presentations.

Association of CAG Repeat Length in the Huntington Gene With Cognitive Performance in Young Adults.

To investigate the relationships between CAG repeat length in the huntingtin gene and cognitive performance in participants above and below the disease threshold for Huntington disease (HD), we performed a cross-sectional analysis of the Enroll-HD database. We analyzed data from young, developing adults (≤30 years of age) without a history of depression, apathy, or cognitive deficits. We included participants with and without the gene expansion (CAG ≥36) for HD. All participants had to have a Total Functional Capacity Score of 13, a diagnostic confidence level of zero, and a total motor score of <10 and had to be >28.6 years from their predicted motor onset. We performed regression analyses to investigate the nonlinear relationship between CAG repeat length and various cognitive measures controlling for age, sex, and education level. There were significant positive relationships between CAG repeat length and the Symbol Digit Modalities, Stroop Color Naming, and Stroop Interference test scores. There were significant negative relationships between CAG repeat length and scores on Parts A and B of the Trails Making Test (p < 0.05), indicating that longer CAG repeat lengths were associated with better performance. An increasing number of CAG repeats in the huntingtin gene below disease threshold and low pathologic CAG ranges were associated with some improvements in cognitive performance. These findings outline the relationship between CAG repeats within the huntingtin gene and cognitive development. This study provides Class IV evidence that CAG repeat length is positively associated with cognitive function across a spectrum of CAG repeat lengths.

PRO48 THE EPIDEMIOLOGY OF HUNTINGTON'S DISEASE IN US, EU5 AND JAPAN: A SYSTEMATIC LITERATURE REVIEW

Huntington’s disease (HD) is a life threatening autosomal dominant neurodegenerative disorder caused by an expanded cytosine-adenine-guanine triplet repeat in the Huntington gene, which encodes an abnormal polyglutamine expansion in the Huntington protein. Literature suggest that HD incidence and prevalence varies globally. Our aim was to conduct a systematic literature review (SLR) to describe the incidence and prevalence of HD confirmed by genetic mutation testing. A comprehensive search was conducted from 2011-2019 using biomedical databases (MEDLINE®, EMBASE®). Studies published prior to 2011 were identified by bibliographic searching of published SLRs’. Additional web-based searches were performed to identify evidence from registries, conferences and grey literature. We included studies from 1993 onwards as identification of the genetic mutation for HD started in 1993, and literature suggests that studies conducted prior to this may therefore underestimate the true prevalence of HD. The quality assessment of relevant studies was conducted, and data was extracted. A total of 21 studies reported data for US (2), UK (8), Spain (3), Italy (5), and Japan (3). Relevant literature was not available for France and Germany. Three studies were assessed as high quality (UK-2; Italy-1) and remaining 18 studies (US-2; UK-6; Italy-4; Spain-3; Japan-3) were of medium quality. The prevalence rates in UK, Italy, Spain, and Japan were 12.3, 10.85, 5.0 and 0.7 per 100,000 respectively. No studies were identified for the prevalence of HD in the general US population. The HD prevalence has increased over time in UK (6.4 in 1993- 12.3 in 2010) and Japan (0.65 in 1993- 0.7 in 2015). The annual incidence rate in US, UK, Italy and Spain were 1.59, 0.72, 0.34 and 0.47 per 100,000 persons. HD prevalence was lower in Japan compared to Western countries. Genetic, demographic and methodological differences among studies could be the reasons for geographic and ethnic variations.

De-Novo Ligand Design against Mutated Huntington Gene by Ligand-based Pharmacophore Modeling Approach.

Huntington's disease is characterized by three side effects, including motor disturbances, psychiatric elements, and intellectual weakness. The onset for HD has nonlinear converse associations with the number of repeat sequences of the polyglutamine mutations, so that younger patients have a tendency for longer repeats length. This HD variation is because of the development of a polyglutamine (CAG) repeats in the exon 1 of the Huntingtin protein. In the present study, a few derivatives utilized as a part of the treatment of HD, are used to create the pharmacophore model and based on the features of the pharmacophore model; an attempt is made to design the de-novo drug for the HD protein. HD protein structure was built and docked with the novel ligand, based on shared feature pharmacophore model, through a ligand-based pharmacophore modeling approach. The novel ligand contains 1 HBAs, 2 HBDs, and 2 aromatic rings. It fulfills all the properties of certain drug-likeness rules, non-toxic in nature. In the docked complex, the common interactive amino acids identified are SER 1035, ALA 1062, MET 1068, LEU 1031, and THR 1036, which confirmed the validity and stability of a ligand molecule to be used as a drug in the treatment of Huntington's disease. A novel ligand can be used in clinical trials as a drug molecule against the mutations of HD gene and in laboratory procedures for efficacy analysis.

Cognitive Screening Tests in Huntington Gene Mutation Carriers: Examining the Validity of the Mini-Mental State Examination and the Montreal Cognitive Assessment.

Due to high prevalence of cognitive impairment in Huntington's disease (HD) gene mutation carriers, even before onset of motor symptoms, cognitive screening is important for the optimal management of patients. The Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA) are widely used, but the validity for HD has only been evaluated in few studies with important limitations. To evaluate the discriminative validity of the MMSE and the MoCA for the assessment of cognitive dysfunction in HD gene mutation carriers, independently of motor manifestation and furthermore, to report estimated probabilities for cognitive impairment with different score ranges on the MMSE and the MoCA. 106 pre-motor-manifest and motor-manifest HD gene mutation carriers and 40 non-HD gene mutation carriers were administered the MMSE, the MoCA, and an extensive neuropsychological battery with operationalized criteria for cognitive impairment. The same physician and the same neuropsychologist performed all examinations; blinded to one another. The area under the receiver operating characteristic (ROC) curve was 0.70 for the MMSE and 0.82 for the MoCA. The latter correctly diagnosed 82% of the cognitively impaired and not-impaired HD gene mutation carriers and non-HD gene mutation carriers, whereas the MMSE only diagnosed 73% correctly. The MMSE and the MoCA can both be used as cognitive screening tests in HD gene mutation carriers, but both have important limitations. Our results indicate that the MoCA is a better cognitive screening test for HD than the MMSE. In addition, our study provides estimated probabilities for cognitive impairment with different score ranges, which may be used as clinical guidelines in the interpretation of results from the two tests.

Bioinformatic analysis of a microRNA regulatory network in Huntington's disease.

Huntington's disease is an autosomal dominant hereditary neurodegenerative disease characterized by progressive dystonia, chorea and cognitive or psychiatric disturbances. The leading cause is the Huntington gene mutation on the patient's chromosome 4 that produces a mutated protein. Recently, attention has focused on the relationship between microRNAs and Huntington's disease's pathogenesis. In Huntington's disease, microRNAs can interact with various transcriptionfactors; dysregulated microRNAs may be associated with the Cytosine deoxynucleotide-Adenine ribonucleotides-Guanine ribonucleotide length and Huntington's disease's progression and severity. This study explores the role of microRNAs in the pathogenesis of Huntington's disease through bioinformatics analysis. By analyzing data from the Gene Expression Omnibus database, we identified a total of 9 differentially expressed microRNA. Subsequently, target genes and long non-coding RNAs were predicted, and a comprehensive regulatory network centered on microRNA was constructed. The microRNA integrated regulatory network, Homo sapiens (hsa)-miR-144-3p, interacted with the largest number of long non-coding RNAs, including X-inactive specific transcriptand taurine upregulated gene 1. The miRNAs, hsa-miR-10b-5p and hsa-miR-196a-5p, regulated most of the target genes, including class I homeobox and brain-derived neurotrophic factorgenes. Additionally, 59 Gene Ontology terms and eight enrichment pathways were identified by analyzing the target genes of hsa-miR-196a-5p and hsa-microRNA-10b-5p. In conclusion, hsa-miR-10b-5p and hsa-miR-196a-5p were significantly and differentially expressed in Huntington's disease, the long non-coding RNAs X-inactive specific transcript, taurine upregulated gene 1, and target genes such as homeobox or brain-derived neurotrophic factor may play critical roles in the pathogenesis of Huntington's disease.

Activity Behaviour of Minipigs Transgenic for the Huntington Gene.

To increase the reliability of translating preclinical findings to humans, large animal models, such as the transgenic (tg) Libechov minipig, were established. As minipigs possess high genetic homology with humans and have similarities in anatomy, physiology and metabolism to humans, they are considered for studying neurodegenerative diseases longitudinally. Recently, sleep abnormalities and changes in circadian rhythm in Huntington's disease (HD) patients were acknowledged to present one of the early symptoms in HD. The aim of the present study was to explore the activity behaviour of Libechov minipigs and to investigate whether tgHD and wildtype (wt) minipigs exhibit differences in activity behaviour. Furthermore, it was investigated whether activity assessments may serve as reliable endpoints for phenotyping minipigs transgenic for the Huntington gene. Activity behaviour of minipigs was studied by video recording the stables twice a week over a total study period of five weeks for a cohort of five tgHD minipigs and five wt minipigs. Statistical analysis was performed using the linear mixed model. Once a week, the distances covered by two minipigs in focus (tgHD, wt) were measured using the VideoMotionTracker® software. Libechov minipigs showed a biphasic pattern of activity, spending most of the time inactive or grubbing in litter. Differences in activity behaviour (rooting, resting and standing) were detected between wt and tgHD minipigs. The influence of the genotype on behavioural patterns was observed during circadian monitoring. TgHD minipigs covered longer distances on average and during every 24 h observation period than wt minipigs. Activity behaviour may be a viable marker for phenotyping minipigs transgenic for the Huntington gene. Video recordings of behavioural patterns provide a non-invasive opportunity to capture potential disease signs. Phenotypic progression including the age of disease manifestation may be explored by documentation of circadian characteristics.