Huntington disease is caused by a dominantly transmitted CAG repeat expansion mutation that is III, Homozygotes, ± (3)+, , ± (3)+, Huntington's disease (HD) is a prototypical neurodegenerative disease in which .. Pyruvate. Using a quinolinic acid striatal lesion model of HD, treatment . EUROPEAN HUNTINGTON'S DISEASE NETWORK Limitations in Functional Activities. 21 . Figure 1: The pre-manifest stage in Huntington's disease 1.
Huntington’s disease 3.2.3.
Before starting the experiment participants were asked for their understanding of basic emotions by a short verbal description.
The stimulus material had been matched for item difficulty, complexity, brightness and colour. Since the IAPS does not include pictures which reliably induce anger, sadness and surprise these categories were omitted.
It is known that IAPS scenes which should induce sadness or anger usually produce mixed emotions e. Affective neutral stimuli were included as a control reference condition. Pre-tests had displayed that this time was reported as sufficient for identifying the pictures also by HD patients. The presentation could be terminated early by pressing a button on a three-button device, which had been developed for the experiment.
For the scenes, subjects rated how intense the six basic emotions were induced by a particular picture e. For each facial expression subjects rated how intense the depicted person experienced the six basic emotions e. To avoid position effects, the order of the two picture perception tasks recognition vs.
We computed mean emotion intensity ratings for affective scenes and facial expressions for each emotional condition and all six basic emotions. Alpha level significance was set at 0. Effect sizes were calculated by Cohen's d. Groups did not differ in depressive symptoms BDI; patients: We also found no group effects for trait anxiety STAI; patients: Group comparison of the mean scores standard errors for intensity ratings of target emotions. Left panel refers to affective facial expressions and right panel to affective scenes.
Group comparison of the mean scores standard errors for classification accuracy difference between rated target emotion intensity and mean sum of non-target intensity ratings for affective facial expressions. Higher scores mean better classification performance.
Group comparison of the Mean scores standard deviations for intensity ratings in neutral stimuli for emotion perception tasks. In this study we investigated emotion recognition and emotion experience in symptomatic HD. The participants had been asked to judge the intensity of affective facial expressions as well as the intensity of emotional experiences elicited by affective scenes using graded choice over six basic emotions.
The analysis of the recognition task revealed lower intensity ratings of target emotions for angry, disgusted and surprised faces in HD patients compared to controls. This points to a quantitative recognition deficit in HD patients. Effect sizes were large for anger and medium for disgust and surprise.
Besides this quantitative deficit, patients showed lower classification accuracy concerning facial expressions of anger and disgust large effect sizes , and for sadness and surprise medium effect sizes. The described deficits of our patients are in line with findings of Snowden et al. Fear recognition was comparably poor in patients as well as in healthy controls.
This is in accordance with previous studies on healthy subjects where facial expressions of fear were typically recognised more poorly than other expressions e. The patients rated angry, fearful and sad faces as happier compared to controls. Also, they perceived neutral faces as happier and as more surprised than the healthy subjects.
In contrast, the controls rated neutral faces as slightly sad, which is in line with earlier findings e. Negative emotions are more difficult to decipher and the patients clearly displayed recognition deficits for affects with negative valence. Due to the reduced recognition of negative emotions, the sensitivity for signs of positive emotions might be enhanced. Altogether, HD patients showed quantitative and qualitative deviations from healthy subjects as to emotion recognition.
There were differences regarding the perceived intensity as well as the distinction of emotions with negative and inconclusive valence. We could also display that these deviations were not specifically linked with patients' poorer cognitive performance. Our second main objective was to determine if the impairment in emotion recognition extends to experience. Interestingly, patients had a tendency to give higher intensity ratings for all experienced emotions happiness, fear, and disgust than controls.
The group difference in experienced emotion intensity was only marginally significant and therefore should be interpreted with caution. However, our data clearly show that HD patients responded differently to affective scenes increased intensity ratings compared to affective faces decreased intensity ratings. Perhaps HD patients start to focus more on their own emotions because the decoding of emotions in others becomes more and more difficult as the disease progresses.
The diminished perception of emotions in others might lead to a compensatory enhancement of one's own feelings. Another explanation is also possible. Since HD patients experience strong emotions and are overwhelmed by them, this might interfere with the correct perception of emotional cues in others.
Moreover, patients and controls rated neutral scenes differently. They displayed a positivity bias similar to the positivity bias for neutral faces and experienced more happiness and surprise when viewing neutral scenes relative to the healthy participants.
Future studies are needed in order to replicate this observation. Hence our data show an HD-related differential impairment in emotion recognition and experience. Such a deficit seems possible as the two processes recognition and experience were independent from each other. The intensity ratings for emotional faces and scenes for a given target emotion were not correlated with each other, neither in patients nor in controls.
We also investigated whether heterogeneous findings on disgust recognition and experience in HD may be due to an influence of personality and gender-related factors.
But we found no difference between patients and controls in habitual emotional reactivity concerning disgust, anxiety, anger and depression. This is in line with results of previous questionnaire assessments Sprengelmeyer et al.
We also found no gender-specific effects in HD. Associations between experience of visual emotional stimuli and habitual emotional reactivity concerned anxiety sensitivity, trait anxiety, disgust sensitivity, and trait anger being related to experienced disgust and fear.
This corresponds with previous studies e. Although no findings exist from previous studies on symptomatic HD we expected symptom severity to affect emotion processing. We found associations between functioning in everyday life and emotion recognition deficits. Huntington disease has a significant impact on the social life. Deficient comprehension of other persons' affect can lead to a breakdown in interpersonal relationships, especially when linguistic functionality becomes worse with progress of disease.
Especially impaired perception of others' anger and fear may result in negative consequences for communication. Our results point to a relationship between these deficiencies and everyday functioning. Therefore, therapeutic approaches should address this aspect and supply emotional recognition trainings for symptomatic patients.
As a limitation of the present study it needs to be mentioned that the two applied emotional tasks differed in their difficulty. The emotion recognition task included six emotions, whereas the experience task only contained three conditions. This might have influenced the ratings.
Furthermore, we plan to study a larger sample of HD patients in order to replicate the findings on enhanced emotion experience. Appendix A Supplementary data to this article can be found online at doi: National Center for Biotechnology Information , U.
Author information Article notes Copyright and License information Disclaimer. This article has been cited by other articles in PMC. Associated Data Supplementary Materials Supplementary material 1. Disease severity in patient samples of previous studies. Clinical ratings of the patient sample. Abstract Findings on affective processing deficits in Huntington's disease HD have been inconsistent.
Symptomatic Huntington's disease, Affective faces, Affective scenes, Intensity perception, Classification accuracy. Introduction Huntington's disease HD is an autosomal dominant, neurodegenerative disorder.
Habitual emotional reactivity was assessed by self-report inventories: Cronbach's alpha is 0. The Cronbach's alpha of the total scale is 0. The Cronbach's alpha of the scale is 0. We only assessed trait anger. All items are rated on 4-point scales. Forty-two pictures with emotional facial expressions depicting happiness 6 , fear 6 , sadness 6 , anger 6 , disgust 6 , surprise 6 , and a neutral affective state 6 from the Karolinska-Set Lundquist et al. Half of the posers were female, half were male.
Twenty-four emotion-relevant scenes for the induction of happiness 6 , fear 6 , disgust 6 , and an affectively neutral state 6 were presented. Disgust-inducing pictures were developed by Schienle et al. Open in a separate window. Intensities of target emotions: Classification accuracy of target emotions: Perception of neutral faces: Patients reported marginally higher intensities for neutral faces than controls. Intensity of target emotions: Patients experienced emotions marginally more intense than controls.
Experience of neutral scenes: Patients tended to estimate neutral scenes as more intense than controls. Controlling for confounding variables: Measures of disease severity: Discussion In this study we investigated emotion recognition and emotion experience in symptomatic HD.
Footnotes Appendix A Supplementary data to this article can be found online at doi: Supplementary data Supplementary material 1. Click here to view. Magnetic resonance imaging as an approach towards identifying neuropathological biomarkers for Huntington's disease. Neuropsychology of fear and loathing. Onset symptoms in patients with Huntington's disease. This disorder usually subsides in 3 to 6 months with no permanent neurological or muscle damage.
The disease is progressive and, if left untreated, it may cause liver hepatic disease, central nervous system dysfunction, and death. Early diagnosis and treatment may prevent serious long-term disability and life threatening complications. Treatment is aimed at reducing the amount of copper that has accumulated in the body and maintaining normal copper levels thereafter. Tourette syndrome is a neurological movement disorder that usually first appears between the ages of two and 16 years.
Initial symptoms are often rapid eye blinking or facial grimaces, but many parts of the body may be affected. Symptoms wax and wane, with new symptoms replacing old ones that have disappeared.
Tourette syndrome is not progressive nor degenerative, and patients live a normal life span. Muscle and vocal tics characterize this disorder. The disorder has been traced to a gene located at 16q Onset typically occurs in the fourth decade, with involuntary movements and abnormalities of voluntary movements, as well as dementia.
The gene has been traced to a site at 16q The diagnosis of Huntington's disease may be confirmed by a thorough clinical evaluation, detailed patient history, and a variety of specialized tests. Specialized x-ray studies such as computerized tomography CT scanning, magnetic resonance imaging MRI , or electroencephalography EEG may help confirm the diagnosis of Huntington's Disease. During CT scanning, a computer and x-rays are used to create a file showing cross-sectional images of the brain.
During MRI, a magnetic field and radio waves are used to create cross-sectional images of the brain. During an EEG, an instrument records electrical activity of the brain. In August , the Food and Drug Administration FDA approved tetrabenazine Xenazine for the treatment of the repetitive, involuntary movements chorea.
The drug has been available in Europe for several years. Other treatment for Huntington's disease is symptomatic and supportive. There are some treatments that may alleviate various symptoms temporarily. Neuroleptic medication such as haloperidon can partially suppress the involuntary movement, especially in the early stages.
Other medication can often help depression and other emotional symptoms. Special high calorie food preparations may help an affected individual maintain weight and avoid choking during the later stages of Huntington's disease. Genetic counseling will be of benefit for affected individuals and their families. Family members of affected individuals should also receive clinical evaluations to detect any symptoms and physical characteristics that may be potentially associated with Huntington's disease.
Information on current clinical trials is posted on the Internet at www. All studies receiving U. In , the U. It also appeared to elevate brain levels of creatine. HD is produced by Avicena. For information, contact the company at:. The one in the U. For information, call the Huntington Study Group at or go to www. This study was launched in The report details studies with animals, but studies involving rapamycin and humans now are planned.
Researchers are studying mice with the HD gene and the use of a type of bile acid called TUDCA in possibly preventing the death of brain neurons. However, more research is needed before this approach can be tested in humans. This trial is being conducted at the Massachusetts General Hospital in Boston.
The principal investigator is Merit E. More information may be obtained by contacting:. Additional study is needed to determine the safety and effectiveness of this treatment for Huntington disease. In , the FDA granted ethyl eicosapentaenoate orphan drug status for the treatment of Huntington disease. Information about current clinical trials related to Huntington disease may be accessed through the Huntington Study Group, a non-profit organization of physicians and other healthcare providers in the United States, Europe, Canada, and Australian.
Beers MH, Berkow R, eds. The Merck Manual, 17th ed. Merck Research Laboratories; The Merck Manual-Home Edition. Mayo Clinic Family Health Book. William Morrow and Company, Inc; Choreas, Athetosis, and Ballism. Bennett JC, Plum F. Cecil Textbook of Medicine. Rosenblatt A, et al, eds. Looking backward to move forward: Curr Neurol Neurosci Rep.
Ostenfeld T, Svendsen CN. Recent advances in stem neurobiology. Adv Tech Stand Neurosurg. Curr Opin Investig Drugs. State of the art review: Movement Disorders Society task for on molecular diagnosis.
Expert Opin Biol Ther. Genetic counseling issues in predictive genetic testing for familial adult-onset neurologic diseases.
Emotion recognition and experience in Huntington's disease: Is there a differential impairment?
Neuron. May;14(5) Widespread expression of Huntington's disease gene (IT15) protein product. Sharp AH(1), Loev SJ, Schilling G, Li SH, Li XJ. Findings on affective processing deficits in Huntington's disease (HD) have been .. Correlative analyses. a). Controlling for confounding variables: For. Calculating something as simple as the prevalence of Huntington's disease (HD) is problematic and . using the meta package in R RESULTS. Figure 1.