29,241 research outputs found
Clinical and genetic analysis of 29 Brazilian patients with Huntington’s disease-like phenotype
Huntington’s disease (HD) is a neurodegenerative disorder characterized by chorea,
behavioral disturbances and dementia, caused by a pathological expansion of the CAG
trinucleotide in the HTT gene. Several patients have been recognized with the typical HD
phenotype without the expected mutation. The objective of this study was to assess the
occurrence of diseases such as Huntington’s disease-like 2 (HDL2), spinocerebellar ataxia
(SCA) 1, SCA2, SCA3, SCA7, dentatorubral-pallidoluysian atrophy (DRPLA) and choreaacanthocytosis
(ChAc) among 29 Brazilian patients with a HD-like phenotype. In the group
analyzed, we found 3 patients with HDL2 and 2 patients with ChAc. The diagnosis was not
reached in 79.3% of the patients. HDL2 was the main cause of the HD-like phenotype in
the group analyzed, and is attributable to the African ancestry of this population. However,
the etiology of the disease remains undetermined in the majority of the HD negative
patients with HD-like phenotype.
Key words: Huntington’s disease, Huntington’s disease-like, chorea-acanthocytosis,
Huntington’s disease-like 2
Nutritional management of individuals with Huntington’s disease: nutritional guidelines
The delivery of good nutritional care is a fundamental element of the management of individuals with Huntington’s disease and all patients with Huntington’s disease will, at some time, need dietary intervention because of the sequela of the disease; yet there are no European nutritional guidelines. The European Huntington’s Disease Network Standards of Care Dietitians Group has brought together expert dietitians from across Europe to produce nutritional guidelines to improve the nutritional management of individuals with Huntington’s disease. The guidelines were developed to promote optimal nutritional screening, assessment and management of individuals throughout all stages of the disease, with the aim of improving the standard of nutritional care delivered. Literature was systematically searched in an attempt to ensure that the recommendations are based on sound evidence and where evidence is lacking, specific guidance is based on consensus expert dietetic opinion. The provision of nutritional care varies widely between countries. Implementation of these nutritional guidelines across Europe should improve the quality of nutritional care delivered to individuals with Huntington’s disease
PromOTing Quality of Life for Individuals with Huntington’s Disease
Objectives of Presentation:
Describe the symptoms of Huntington’s disease and their impact on functional performance.
Recognize the role of occupational therapy in improving quality of life for individuals with Huntington’s disease.
Discuss how occupational therapy interventions for individuals with Huntington’s disease can be applied in a variety of settings.
Clinical Question:
What is the effectiveness of occupational therapy interventions in improving quality of life for individuals with Huntington’s disease?
Presentation: 46 minute
Huntington\u27s Disease--A Review
Huntington’s disease is degenerative and effects both cognitive and motor functioning, beginning in the 20s and continuing a decline for about two decades until death. In this disease, the huntingtin gene on chromosome four codes for an abnormally elongated repeating CAG polypeptide sequence. This mutation causes an atrophy in the brain that translates into decreasing control of movements and other aspects of cognition. To date, there is no cure for Huntington’s disease, but there are treatments for many symptoms that accompany the disease. Even still, there are promising new methods that may be more beneficial to patients in the future
Rating scales for behavioural symptoms in Huntington's Disease: critique and recommendations
Behavioral symptoms are an important feature of Huntington’s disease and contribute to impairment in quality of life. The Movement Disorder Society commissioned the assessment of the clinimetric properties of rating scales in Huntington’s disease in order to make recommendations regarding their use, following previously used standardized criteria. A systematic literature search was conducted to identify the scales used to assess behavioral symptoms in Huntington’s disease. For the purpose of this review, seven behavioral domains were deemed significant in Huntington’s disease: irritability, anxiety, depression, apathy, obsessive-compulsive behaviors, psychosis and suicidal ideation. We included a total of 27 behavioral rating scales, 19 of which were of a single behavioral domain, and the remaining 8 scales included multiple behavioral domains. Three rating scales were classified as “recommended” exclusively for screening purposes: the Irritability Scale for irritability, and the Beck Depression Inventory-II and the Hospital Anxiety and Depression Scale for depression. There were no “recommended” scales for other purposes such as diagnosis, severity or change in time or to treatment. The main challenges identified for assessment of behavioral symptoms in Huntington’s disease are the co-occurrence of multiple behavioural symptoms, the particular features of a behavioral symptom in Huntington’s disease, as well as the need to address stage- and disease-specific features, including cognitive impairment and lack of insight. The committee concluded that there is a need to further validate currently available behavioral rating scales in Huntington’s disease to address gaps in scale validation for specific behavioral domains and purpose of use
Comprehensive behavioral testing in the R6/2 mouse model of Huntington's disease shows no benefit from CoQ10 or minocycline
Previous studies of the effects of coenzyme Q10 and minocycline on mouse models of Huntington’s disease have produced conflicting results regarding their efficacy in behavioral tests. Using our recently published best practices for husbandry and testing for mouse models of Huntington’s disease, we report that neither coenzyme Q10 nor minocycline had significant beneficial effects on measures of motor function, general health (open field, rotarod, grip strength, rearing-climbing, body weight and survival) in the R6/2 mouse model. The higher doses of minocycline, on the contrary, reduced survival. We were thus unable to confirm the previously reported benefits for these two drugs, and we discuss potential reasons for these discrepancies, such as the effects of husbandry and nutrition
Exploring the structural relationship between interviewer and self-rated affective symptoms in Huntington’s disease
This study explores the structural relationship between self-report and interview measures of affect in Huntington’s disease. The findings suggest continued use of both to recognize the multidimensionality within a single common consideration of distress
Implications of Huntington\u27s Disease on Daily Living: An Educational Tool and Guide for Occupational Therapists Treating Individuals with Huntington\u27s Disease
Huntington’s disease (HD) is a neurodegenerative disease that can cause stress on the individual as well as their family members and caregivers. Due to the rareness of Huntington’s disease (HD), it is common that professionals are often at a loss when treating patients who have it. Dawson et al. (2004) discussed the need for individualized and client-centered care for those individuals diagnosed with HD, as well as providing practical supports for those diagnosed and their families. Furthermore, a major challenge to assessment and intervention is the complexity of the symptoms present with HD. Etchgary (2011) found in her study that caregivers and those diagnosed with HD discovered many primary care providers lacked the foundational knowledge of HD and often were not able to find a correct diagnosis for the symptoms presented in the initial phase, thus contributing to the problem of lack of supportive care for this client population.
Implications of Huntington’s Disease on Daily Living: An Educational Tool and Guide for Occupational Therapists Treating Individuals with Huntington’s Disease, was developed to address the continuing need for supportive care in healthcare for those affected by Huntington’s disease. A literature review was conducted to identify evidence based and best practices. The guide is designed to address various occupational components affected by Huntington’s disease thus increasing quality of care, and decreasing lack of supportive care for individuals affected by Huntington’s disease and their caregivers
A fruitful fly forward : the role of the fly in drug discovery for neurodegeneration
AD, Alzheimer’s disease; APP, amyloid precursor protein; BBB, blood brain barrier; GFP, green fluorescent protein; HTS, high-throughput screening; HD, Huntington’s disease; LB, Lewy bodies; PD, Parkinson’s disease; PolyQ, Polyglutamine; RNAi, RNA interference; SNCA, α-synuclein gene; UAS, Upstream Activating Sequence.peer-reviewe
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