The Neuropsychiatry of Huntington Disease-Like 2: A Comparison with Huntington’s Disease

2020 ◽  
Vol 9 (4) ◽  
pp. 325-334
Author(s):  
Aline Ferreira-Correia ◽  
Amanda Krause ◽  
David G. Anderson
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Huntington Disease ◽  
Rating Scale ◽  
Psychiatric Symptoms ◽  
African Ancestry ◽  
Autosomal Dominant Disorder ◽  
Cross Sectional ◽  
Triplet Repeat Expansion ◽  
Cross Sectional Design

Background: Huntington Disease-Like 2 (HDL2) is a rare autosomal dominant disorder caused by an abnormal CAG/CTG triplet repeat expansion on chromosome 16q24. The symptoms of progressive decline in motor, cognitive and psychiatric functioning are similar to those of Huntington’s disease (HD). The psychiatric features of the HDL2 have been poorly characterized. Objective: To describe the neuropsychiatric features of HDL2 and compare them with those of HD. Methods: A blinded cross-sectional design was used to compare the behavioural component of the Unified Huntington’s Disease Rating Scale (UHDRS) in participants with HDL2 (n = 15) and HD (n = 13) with African ancestry. Results: HDL2 patients presented with psychiatric symptoms involving mood disturbances and behavioural changes that were not significantly different from those in the HD group. Duration of disease and motor performance correlated (p < 0.001) with the Functional Capacity score and the Independence score of the UHDRS. HD patients reported movement dysfunction as the first symptom more frequently than HDL2 Patients (p < 0.001). Conclusion: The psychiatric phenotype of HDL2 is similar to that of HD and linked to motor decline and disease duration. Psychiatric symptoms seem more severe for HDL2 patients in the early stages of the disease.

“organic Personality Disorder” as Part of Early Neuropsychiatric Manifestations in Huntington’s Disease - a Case Report

2009 ◽  
Vol 24 (S1) ◽  
pp. 1-1
Author(s):  
J. Maia
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Psychiatric Symptoms ◽  
Age Of Onset ◽  
Neuropsychiatric Symptoms ◽  
Personality Change ◽  
Psychotic Symptoms ◽  
Autosomal Dominant Disorder ◽  
Neuropsychiatric Manifestations ◽  
Psychiatric Manifestations

Huntington's Disease (HD) is an inherited autosomal dominant disorder characterized by motor, cognitive and psychiatric symptomatology, being considered a paradigmatic neuropsychiatric disorder that includes all three components of the "Triadic Syndromes": dyskinesia, dementia and depression.Firstly described in 1872 as an "Hereditary Chorea" by George Huntington only in 1993 was its responsible gene identified. A person who inherits the HD gene will sooner or later develop the disease. the age of onset, early signs and rate of disease progression vary greatly from person to person.Neuropsychiatric symptoms are an integral part of HD and have been considered the earliest markers of the disease, presenting sometimes more than 10 years before a formal diagnosis is done. Patients may experience dysphoria, mood swings, agitation, irritability, hostile outbursts, psychotic symptoms and deep bouts of depression with suicidal ideation. Personality change is reported in 48% of the cases, with the paranoid subtype being described as the most prevalent. the clinical case presented illustrates a case of HD which started with insidious psychiatric symptoms and an important personality change.Despite a wide number of medications being prescribed to help control emotional, movement and behaviour problems, there is still no treatment to stop or reverse the course of the disease. Furthermore, psychiatric manifestations are often amenable to treatment, and relief of these symptoms may provide significant improvement in patient's and caregivers quality of life.A greater awarness of psychiatric manifestations of HD is essential to an earlier diagnosis and an optimized therapeutic approach.

scholarly journals Aggressive Behaviour in Huntington’s Disease: A Cross-Sectional Study in a Nursing Home Population

1993 ◽  
Vol 6 (1) ◽  
pp. 43-47 ◽  
Author(s):  
R. S. Shiwach ◽  
V. Patel
Keyword(s):  
Nursing Home ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Aggressive Behaviour ◽  
Rating Scale ◽  
Cross Sectional Study ◽  
Cognitively Impaired ◽  
Sectional Study ◽  
Nursing Home Population ◽  
Cross Sectional

We describe a cross-sectional study of aggressive behaviour in a sample of patients suffering from Huntington's disease in a residential nursing home. Data were obtained using the RAGE, a behaviourally oriented rating scale for measuring aggressive behaviour in cognitively impaired patients. Nursing staff rated 27 patients after a 3 day observation period. A third of the sample were rated to be at least mildly aggressive; the frequencies of some specific types of aggressive behaviour were high. In contrast, the frequency of injuries sustained and the use of restraints and medication for aggressive behaviour were low. Aggressive behaviour was found to be significantly related to the degree of functional impairment. These data are compared with those reported in a study using the RAGE to assess aggressive behaviour in a sample of elderly patients with dementia.

scholarly journals Molecular mediators, environmental modulators and experience-dependent synaptic dysfunction in Huntington's disease.

2004 ◽  
Vol 51 (2) ◽  
pp. 415-430 ◽  
Author(s):  
Anthony J Hannan
Keyword(s):  
Neurodegenerative Diseases ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Environmental Enrichment ◽  
Molecular Mechanisms ◽  
Psychiatric Symptoms ◽  
Brain Regions ◽  
Cag Repeat ◽  
Autosomal Dominant Disorder ◽  
Gene Environment

Huntington's disease (HD) is an autosomal dominant disorder in which there is progressive neurodegeneration producing motor, cognitive and psychiatric symptoms. HD is caused by a trinucleotide (CAG) repeat mutation, encoding an expanded polyglutamine tract in the huntingtin protein. At least eight other neurodegenerative diseases are caused by CAG/glutamine repeat expansions in different genes. Recent evidence suggests that environmental factors can modify the onset and progression of Huntington's disease and possibly other neurodegenerative disorders. This review outlines possible molecular and cellular mechanisms mediating the polyglutamine-induced toxic 'gain of function' and associated gene-environment interactions in HD. Key aspects of pathogenesis shared with other neurodegenerative diseases may include abnormal protein-protein interactions, selective disruption of gene expression and 'pathological plasticity' of synapses in specific brain regions. Recent discoveries regarding molecular mechanisms of pathogenesis are guiding the development of new therapeutic approaches. Knowledge of gene-environment interactions, for example, could lead to development of 'enviromimetics' which mimic the beneficial effects of specific environmental stimuli. The effects of environmental enrichment on brain and behaviour will also be discussed, together with the general implications for neuroscience research involving animal models.

Abnormal gait and bradykinesia in the preclinical phase of Huntington's disease – psychogenic movement disorder?

2011 ◽  
Vol 23 (6) ◽  
pp. 315-317
Author(s):  
Witold Soltan ◽  
Emilia Sitek ◽  
Hubert Wichowicz ◽  
Dariusz Wieczorek ◽  
Jaroslaw Slawek
Keyword(s):  
Huntington's Disease ◽  
Movement Disorder ◽  
Huntington’S Disease ◽  
Rating Scale ◽  
Psychiatric Symptoms ◽  
Preclinical Phase ◽  
Abnormal Gait ◽  
Genetic Status ◽  
Psychogenic Movement Disorder

Soltan W, Sitek E, Wichowicz H, Wieczorek D, Slawek J. Abnormal gait and bradykinesia in the preclinical phase of Huntington's disease – psychogenic movement disorder?Objective: Psychiatric symptoms may occur in individuals at risk of Huntington's disease (HD) regardless of their genetic status. Psychopathological symptomatology is attributed to both genetic and environmental factors. In case of asymptomatic gene carriers, psychiatric symptoms may precede involuntary movements.Methods: We report the first case with abnormal gait and bradykinesia in preclinical adult HD. A 33-year-old woman blind to her mother's HD diagnosis and her own genetic status developed motor slowing and gait disturbance. The symptoms withdrew due to counselling and antidepressant medications. Subsequently, she was informed her own and her mother's genetic testing results, but 2-year follow-up did not reveal the onset of choreic movements, cognitive deterioration or depressive symptoms in the patient. Personality assessment (Minnesota Multiphasic Personality Inventory) and neurological examination results are presented, accompanied by 2-year follow-up data. Follow-up examination included Unified Huntington's Disease Rating Scale (motor, behaviour and function), Beck Depression Inventory, Hamilton Depression Rating Scale and neuropsychological assessment (trail-making test, Stroop test, verbal fluency trials, symbol digit modalities test, digit span, serial seven subtraction, Hopkins verbal learning test and nine-hole peg test).Conclusion: Motor abnormalities in individuals at risk of HD may be of psychogenic origin. It is a matter of debate if this psychogenic reaction presented as hypokinetic syndrome may be a result of choreic movements of her mother (hyperkinetic syndrome) and depression or if this psychogenic reaction represents the preclinical psychiatric abnormalities in an asymptomatic gene carrier preceding the onset of the disease.

Factors predicting discharge of Huntington's disease patients from a neuropsychiatry unit

2010 ◽  
Vol 22 (3) ◽  
pp. 489-492 ◽  
Author(s):  
Akshya Vasudev ◽  
Tracy Palmer ◽  
Alan Thomas ◽  
David Burn ◽  
William Barker
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Rating Scale ◽  
Statistical Tests ◽  
Total Duration ◽  
Cross Sectional Study ◽  
Level Of Care ◽  
Psychiatric Unit ◽  
Cross Sectional ◽  
Levels Of Care

ABSTRACTBackground: We explored phenotypic parameters of people with Huntington's disease who had been admitted to a psychiatric unit and then discharged, with a view to determining prognostic factors for discharge to higher levels of care.Methods: A cross-sectional study was carried out on 19 patients admitted to a psychiatric unit with Huntington's disease. Data on the Unified Huntington's Disease Rating Scale (UHDRS) of behavior and function, global assessment of presence of depression and dementia as well as discharge outcomes were collated. Appropriate parametric and non-parametric statistical tests were applied.Results: Fourteen patients were discharged to accommodation with the same level of care versus five who were discharged to a higher level of care. Having poor functioning in terms of activities of daily living predicted discharge to an increased level of care. Being depressed or having dementia did not forecast poor outcome. The total duration of admission was not related to UHDRS parameters.Conclusions: Poor functioning on admission independently predicts the need for higher levels of care for patients who are admitted to a neuropsychiatric ward.

The Impact of Anosognosia on Clinical and Patient-Reported Assessments of Psychiatric Symptoms in Huntington’s Disease

2020 ◽  
Vol 9 (3) ◽  
pp. 291-302
Author(s):  
David Isaacs ◽  
Jessie S. Gibson ◽  
Jeffrey Stovall ◽  
Daniel O. Claassen
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Discriminant Validity ◽  
Rating Scales ◽  
Rating Scale ◽  
Psychiatric Symptoms ◽  
Self Report ◽  
Depression And Anxiety ◽  
Patient Reported ◽  
The Impact

Background: Psychiatric symptoms are widely prevalent in Huntington’s disease (HD) and exert greater impact on quality of life than motor manifestations. Despite this, psychiatric symptoms are frequently underrecognized and undertreated. Lack of awareness, or anosognosia, has been observed at all stages of HD and may contribute to diminished patient self-reporting of psychiatric symptoms. Objective: We sought to evaluate the impact of anosognosia on performance of commonly used clinical rating scales for psychiatric manifestations of HD. Methods: We recruited 50 HD patients to undergo a formal psychiatrist evaluation, the Problem Behavior Assessment-Short Form (PBA-s), and validated self-report rating scales for depression, anxiety, and anger. Motor impairment, cognitive function, and total functional capacity were assessed as part of clinical exam. Patient awareness of motor, cognitive, emotional, and functional capacities was quantified using the Anosognosia Rating Scale. Convergent validity, discriminant validity, classification accuracy, and anosognosia effect was determined for each psychiatric symptom rating scale. Results: Anosognosia was identified in one-third of patients, and these patients underrated the severity of depression and anxiety when completing self-report instruments. Anosognosia did not clearly influence self-reported anger, but this result may have been confounded by the sub-optimal discriminant validity of anger rating scales. Conclusion: Anosognosia undermines reliability of self-reported depression and anxiety in HD. Self-report rating scales for depression and anxiety may have a role in screening, but results must be corroborated by provider and caregiver input when anosognosia is present. HD clinical trials utilizing patient-reported outcomes as study endpoints should routinely evaluate participants for anosognosia.

scholarly journals An item response analysis of the motor and behavioral subscales of the unified Huntington's disease rating scale in huntington disease gene expansion carriers

2011 ◽  
Vol 26 (5) ◽  
pp. 877-884 ◽  
Author(s):  
Anthony L. Vaccarino ◽  
Karen Anderson ◽  
Beth Borowsky ◽  
Kevin Duff ◽  
Joseph Giuliano ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Item Response ◽  
Huntington Disease ◽  
Rating Scale ◽  
Disease Gene ◽  
Response Analysis ◽  
Gene Expansion ◽  
Disease Rating ◽  
Huntington Disease Gene

Sensitivity of gait analysis to detect motor phenotype in pre-manifest and manifest Huntington's disease – cross-sectional results from the TRACK-HD Study

2009 ◽  
Vol 36 (S 02) ◽  
Author(s):  
S Rohm ◽  
N Bechtel ◽  
H Beckmann ◽  
A Sturrock ◽  
S van den Bogaard ◽  
...  
Keyword(s):  
Gait Analysis ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Cross Sectional ◽  
Motor Phenotype

A teaching film, video library and online certification for the Unified Huntington's Disease Rating Scale Total Motor Score

2009 ◽  
Vol 36 (S 02) ◽  
Author(s):  
R Reilmann ◽  
R Roos ◽  
A Rosser ◽  
Y Grimbergen ◽  
P Kraus ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Rating Scale ◽  
Motor Score ◽  
Disease Rating ◽  
Video Library

scholarly journals Management of Traumatic Ulcerations of Lips in a Case of Huntington’s Disease: A Novel Application of Essix Retainer

2021 ◽  
pp. 030157422110234
Author(s):  
Mohamed Iqbal J
Keyword(s):  
Quality Of Life ◽  
Characteristic Feature ◽  
Neurodegenerative Disease ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Complete Resolution ◽  
Psychiatric Symptoms

Huntington’s disease is a progressive neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms. Dystonia of muscles is a characteristic feature of this condition. A case of Huntington’s disease, with orofacial dystonia, leading to severe uncontrolled biting of the lips, was referred by the Department of Neurology. Deep traumatic ulcerations were found in both upper and lower lips. A simple Essix retainer was fabricated and inserted, which acted as a barrier for the teeth from injuring the lips. The ulcers showed complete resolution in 3 to 4 weeks. The vacuum-formed retainers resulted in a good fit and resisted removal by the uncontrolled contortions of the orofacial muscles. The Essix retainer can be effectively used in improving the quality of life of patients, with Huntington’s disease, having such dystonia-related injuries to lips.

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