To assess the utility of the Mini Mental State Exam (MMSE) and Montreal Cognitive Assessment (MoCA) for tracking cognitive changes Huntington’s Disease.

Currently, the most frequently used brief assessment of global cognitive functioning is the MMSE. Although the MMSE is helpful for distinguishing individuals without significant cognitive impairment from those with dementia, it is not particularly sensitive to more subtle cognitive deficits. The MoCA is another brief cognitive screening tool that has been shown to be more sensitive to mild impairment and may have greater usefulness in subcortical dementias because of its more extensive assessment of executive function. Although the MoCA appears to have high sensitivity and specificity in a variety of neurological populations, there is currently little known about its efficacy in tracking cognitive decline in individuals with HD. We used a mixed effects model to analyze MMSE and MoCA scores collected prospectively during 5 years of follow-up for 163 patients with HD seen at one academic HDSA Center of Excellence. Baseline mean age for the HD cohort was 51.35 years, mean education 14.46 years, and a mean CAG repeat length 43.95. Mean follow-up time was 3.33 years.

Mean MMSE and MoCA scores at baseline were 25.13 (SD=1.66) and 22.76 (SD=3.70) respectively. At baseline, age and gender were not associated with MMSE and MoCA scores, while years of education were. Neither age nor gender predicted rate of decline for the MoCA while years of education predicted rate of decline for the MMSE. For the MMSE, each year of education predicted on average 0.51 points higher score at enrollment; for the MoCA, each year of education predicted on average 0.79 points higher score at enrollment. The mean rates of decline on the MMSE was 0.48 points per year (p<.001) while that on the MoCA was only 0.31 points annually (p<.001) in the first five years of observation.

The MMSE and MoCA decline significantly over time in an unselected HD population. The smaller rate of decline in the MoCA may be due, in part, to the greater variability in baseline, MoCA (SD=3.70) vs MMSE (SD=1.66) scores in our HD cohort. Unlike cortical dementias, such as Alzheimer’s disease (AD), where declines of 2-3 points per year have been described for the MMSE and MoCA, much lower annual rates of decline have been reported in subcortical dementias such as Parkinson’s disease. To our knowledge, this is the first report of rate of cognitive decline on the MMSE and MoCA in HD: such information is vital for adequately preparing patients and families for future needs, in addition to planning for interventional/treatment trials in HD.

To investigate if executive and social cognitive dysfunction was associated with apathy in a large cohort of Huntington’s disease gene expansion carriers.

Eighty premanifest and motor-manifest Huntington’s disease gene expansion carriers (Mini-Mental State Examination score ≥ 24 and Montreal Cognitive Assessment score ≥ 19) and thirty-two controls were examined with the Lille Apathy Rating Scale (LARS), a tailored and quantitative measure of apathy, and a comprehensive cognitive battery on executive functions and social cognition (emotion recognition, theory of mind and sarcasm detection), as well as general correlates like demographic variables, and neuropsychiatric and cognitive screening tests.

The motor-manifest Huntington’s disease gene expansion carriers had significantly different scores on most measures of social cognition and executive functions, compared to premanifest and control participants. Apathy was significantly correlated with most executive test scores, but the Emotion Hexagon was the only social cognitive test score significantly correlated with apathy. We found that the motor score and the depression score were the only significant predictors of the apathy score, when the social cognitive and executive tests with the strongest association with the global LARS score were entered into a multiple stepwise regression model. No cognitive test score could significantly predict apathy. The model explained 21 % of the total variance.

Despite being significantly correlated with apathy neuropsychological variables did not have a significant impact on apathy when variables as depression and motor symptoms were taken into account. Apathy should be considered an independent symptom of Huntington’s disease that requires specific examination.

Huntington’s disease (HD) is a rare (1-9/100 000), inherited disease characterized by an elongated CAG repeat on chromosome 4p, leading to a degeneration of neurons. Also, psychiatric symptoms are very common in the early stage and may appear before motor symptoms.

To characterize neuropsychiatric symptoms in a group of individuals with manifest or pre-motor Huntington’s disease in Medellín, Colombia.

Data obtained from clinical records of individuals with HD (motor-manifest or pre-motor with triplets count) evaluated for ENROLL-HD project in the Group of Neuroscience of Antioquia. We explored variables related to substances abuse, neuropsychiatric symptoms, the respective age of onset, sex, and triplet count when available.

Twenty-six (53%) were women, 8% had a familiar history of psychotic illness in a first-degree relative and 88% presented motor symptoms. Also, 59% had a history of depression, 53% irritability, 57% aggressiveness, 34% apathy, 29% perseverative/obsessive behavior, 14% psychosis, and 30% mild cognitive impairment. Ten individuals (20%) had motor without neuropsychiatric symptoms. Also, thirty-seven individuals (76%) presented motor and neuropsychiatric symptoms; of these, 41% had neuropsychiatric symptoms before motor symptoms. No psychiatric symptoms were associated with the use of alcohol, cigarettes, or drugs of abuse.

Neuropsychiatric symptoms are highly prevalent among individuals with HD and studies oriented to create relevant knowledge for the development of advice oriented to people with this disease are necessary.

No significant relationships.

Huntington’s Disease (HD) is an autosomal dominant, neurodegenerative condition with a prevalence of 10.6-13.7 per 100,000, caused by the trinucleotide CAG (cytosine, adenine, guanine) repeat expansion in the HTT gene. HD is characterized by a range of motor, cognitive, and psychiatric symptoms, the latter of which usually manifest prior to the onset of motor or cognitive disturbances. Amongst psychiatric symptoms, changes in personality are most common, followed by depression. Psychosis has a higher prevalence in those with early-onset HD.

This case report aims to demonstrate an apporach to the management of neuropsychiatric disturbances in HD as well as expose the need for development of an evidence-based apprach to treatment.

PubMed was searched for the criteria Huntington’s Disease AND Psychosis, with a secondary search for Management of Psychosis in Huntington’s Disease.

The patient is a 54-year-old male with no psychiatric history and reported past medical history of Huntington’s Disease, diagnosed one month ago. He was brought to the Psychiatric ED due to agitation and disorganized behavior at home. On admission, he demonstrated disorganized behavior, grandiose delusions, neurocognitive deficits, and reported auditory hallucinations. With the initiation of tetrabenazine and risperidone his psychiatric symptoms improved and he was able to be discharged to a long-term care facility.

Literature is scarce regarding treatment of psychiatric manifestations of HD. We catered our approach towards safe and effective symptoms management in a multidisciplinary manner. Further research is required to reach an evidence-based consensus as well as develop specific guidelines for managing psychiatric conditions related to HD.

No significant relationships.

This research examined the perspective of the Huntington’s disease (HD) community regarding the use of predictive biomarkers as endpoints for regulatory approval of therapeutics to prevent or delay the onset of clinical HD in asymptomatic mutation carriers.

An online, choice-based conjoint survey was shared with HD community members including untested at-risk individuals, presymptomatic mutation carriers, and symptomatic individuals. Across 15 scenarios, participants chose among two proposed therapies with differing degrees of biomarker improvement and side effects or a third option of no treatment.

Two hundred and thirty-eight responses were received. Attributes reflecting biomarker efficacy (e.g., prevention of brain atrophy on magnetic resonance imaging, reduced mutant huntingtin, or reduced inflammation biomarkers) had 3- to 7-fold greater importance than attributes representing side effects (e.g., increased risk of heart disease, cancer, and stroke over 20 years) and were more influential in directing choice of treatments. Reduction in mutant huntingtin protein was the most valued attribute overall. Multinomial logit model simulations based on survey responses demonstrated high interest among respondents (87–99% of the population) for drugs that might prevent or delay HD solely based upon biomarker evidence, even at the risk of serious side effects.

These results indicate a strong desire among members of the HD community for preventive therapeutics and a willingness to accept significant side effects, even before the drug has been shown to definitively delay disease onset if the drug improves biomarker evidence of HD progression. Preferences of the HD community should inform regulatory policies for approving preventive therapies.

Huntington’s disease (HD) is a progressive neuropsychiatric and degenerative disorder that shows an autosomal dominant inheritance pattern. The principal symptoms of HD are progressive movement disorders, cognitive deterioration, dementia, and certain psychiatric manifestations, which may occur in many different forms, such as depression, psychosis, personality changes.

In this presentation, two female HD patients with psychotic components complicated with suicidal and homicidal thoughts will be reported to better illustrate psychiatric components of HD.

Hospitalization records of these two patients with genetically verified HD diagnosis indicated that their psychiatric health precipitously deteriorated in the last decade.

While the first patient suffered from severe depression, anxiety, suicidality; persecution ideas, suspiciousness, hostility were noted more prominently in the latter. Moreover, both cases had a positive family history for psychiatric diseases which is one of the hallmarks of HD. Anti-psychotic drug olanzapine, which has minor side-effects on EPS, was found to be highly effective on our HD patients, alleviating the behavioral and psychiatric symptoms of the disease.

In conclusion, HD should be one of the differential diagnoses if patients with psychiatric complaints have accompanying neurological findings such as movement disorders and impaired memory, and great attention should be paid to the extrapyramidal system (EPS) sensitivity of the chosen treatment regime when treating the HD patients,

Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder, that typically manifests in adulthood, clinically characterized by progressive motor, cognitive and psychiatric/behavioural symptoms. Psychiatric symptoms are common in HD. The presentation of these symptoms is highly variable, and their course does not correlate with motor or cognitive disease progression. Psychiatric symptoms often precede motor onset by many years.

The authors intend to review the literature the most frequent psychiatric disorders in patients with HD.

Non-systematic review of the literature.

Psychiatric symptoms have been a core feature of HD. Pre-symptomatic HD patients exhibit a greater prevalence of psychiatric symptoms, particularly affective disorders. This symptoms are presenting symptoms of HD in up to half of all people. In symptomatic HD patients, it is estimated that up to 73–98% of patients will have a major psychiatric disorder or psychiatric symptoms. Psychiatric manifestations in HD include depression, irritability, apathy, anxiety, mania, perseverations, obsessions and psychosis. Cognitive changes include progressive deficits in attention, learning, executive and sensory functions, resulting in dementia. Depression, diagnosed in half of patients with HD, is the most common and earliest symptoms prior to the motor onset. There are likely multiple causes of the psychiatric symptoms, with underlying factors including a combination of neurobiological, cognitive, psychological, social and environmental factors.

Patients with HD have high psychiatric comorbidity, that causes significant functional impairment and affect quality of life. Thus, they require a multidisciplinary approach in the recognition and treatment of psychiatric symptoms.

This study aims to systematically review evidence of the accuracy of the Montreal Cognitive Assessment (MoCA) for evaluating the presence of cognitive impairment in patients with Huntington’s disease (HD) and to outline the quality and quantity of research evidence available about the use of the MoCA in this population.

We conducted a systematic literature review, searching four databases from inception until April 2020.

We identified 26 studies that met the inclusion criteria: two case–control studies comparing the MoCA to a battery of tests, three studies comparing MoCA to Mini-Mental State Examination, two studies estimating the prevalence of cognitive impairment in individuals with HD and 19 studies or clinical trials in which the MoCA was used as an instrument for the cognitive assessment of participants with HD. We found no cross-sectional studies in which participants received the index test (MoCA) and a reference standard diagnostic assessment composed of an extensive neuropsychological battery. The publication period ranged from 2010 to 2020.

In patients with HD, the MoCA provides information about disturbances in general cognitive function. Even if the MoCA demonstrated good sensitivity and specificity when used at the recommended threshold score of 26, further cross-sectional studies are required to examine the optimum cutoff score for detecting cognitive impairments in patients with HD. Moreover, more studies are necessary to determine whether the MoCA adequately assesses cognitive status in individuals with HD.

Huntington’s disease (HD) is a neurodegenerative disease characterized by increasing dysphagia as the disease progresses. Specific characteristics of the HD dysphagia are not well defined.

To characterize the swallowing disturbances of HD patients, to evaluate the feasibility of Fiberoptic Endoscopic Evaluation of Swallowing (FEES) in assessing dysphagia in HD patients, and to discern the relation between FEES findings and patients’ self-report on dysphagia symptoms and swallowing related quality of life (SWAL-QOL).

A retrospective case series in a tertiary referral center. All recruited HD patients underwent Bed Side Swallowing Evaluation (BSE), FEES, the Unified Huntington’s Disease Rating Scale (UHDRS), and the Montreal Cognitive Assessment (MoCA). All completed the Swallowing Disturbances Questionnaire (SDQ) and the SWAL-QOL questionnaire.

Fourteen HD patients were recruited. All were able to complete the FEES study. The FEES demonstrated delayed swallowing reflex, solid food residues, and pre/post swallowing spillage in most patients (50%, 53.5%, 83.3%, and 87.5%, respectively). The mean SDQ score was 13.2. Significant correlations were found between the SWAL-QOL fear of eating score; the SDQ oral, pharyngeal, and total scores; and the FEES parameters of pureed and solid food bolus flow time. Significant correlations were also found between the total UHDRS score, the volitional cough score, and the SWAL-QOL disease burden score.

HD patients exhibit prominent unique oropharyngeal dysphagia features that may serve as a marker of disease progression. The FEES and the SDQ are valuable tools for detecting these features in HD patients with swallowing disturbance.