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  • Springer Science and Business Media LLC  (3)
  • Frank, Wiebke  (3)
  • 1
    Online Resource
    Online Resource
    Quality of life, health-related quality of life, and associated factors in Huntington’s disease: a systematic review
    Springer Science and Business Media LLC ; 2023
    In:  Journal of Neurology Vol. 270, No. 5 ( 2023-05), p. 2416-2437
    Details
    In: Journal of Neurology, Springer Science and Business Media LLC, Vol. 270, No. 5 ( 2023-05), p. 2416-2437
    Abstract: Huntington’s disease (HD) is a genetic, neurodegenerative disease. Due to the progressive nature of HD and the absence of a cure, (health-related) quality of life ((HR)QoL) is an important topic. Several studies have investigated (HR)QoL in HD, yet a clear synthesis of the existing literature is lacking to date. We performed a systematic review on self-reported (HR)QoL, and factors and intervention effects associated with (HR)QoL in premanifest and manifest HD gene expansion carriers (pHDGECs and mHDGECs, respectively). Methods PubMed, EMBASE, Web of Science, and PsycINFO were searched systematically from September 17th, 2021, up to August 11th, 2022. Methodological and conceptual quality of the included studies was assessed with two appraisal tools. Results 30 out of 70 eligible articles were included. mHDGECs experienced lower (HR)QoL compared to pHDGECs and controls, whereas mixed findings were reported when compared to other neurological diseases. Several factors were associated with (HR)QoL that might contribute to lower (HR)QoL in mHDGECs, including depressive symptoms, physical and psychological symptoms, lower functional capacity, lower support, and unmet needs. Multidisciplinary rehabilitation programs and a respiratory muscle training were beneficial for (HR)QoL in mHDGECs. Discussion (HR)QoL is experienced differently across the course of the disease. Although (HR)QoL is key for understanding the impact of HD and the effect of symptomatic treatment, there is a need to improve the methodological and conceptual shortcomings that were found in most studies, especially regarding the conceptual clarity when reporting on QoL and HRQoL. Suggestions for strengthening these shortcomings are provided in this review.
    Type of Medium: Online Resource
    ISSN: 0340-5354 , 1432-1459
    URL: Article
    DOI: 10.1007/s00415-022-11551-8
    RVK:
    XA 10000
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2023
    detail.hit.zdb_id: 1421299-7
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  • 2
    Online Resource
    Online Resource
    Establishing normative data for the evaluation of cognitive performance in Huntington’s disease considering the impact of gender, age, language, and education
    Springer Science and Business Media LLC ; 2023
    In:  Journal of Neurology Vol. 270, No. 10 ( 2023-10), p. 4903-4913
    Details
    In: Journal of Neurology, Springer Science and Business Media LLC, Vol. 270, No. 10 ( 2023-10), p. 4903-4913
    Abstract: A declining cognitive performance is a hallmark of Huntington’s disease (HD). The neuropsychological battery of the Unified HD Rating Scale (UHDRS'99) is commonly used for assessing cognition. However, there is a need to identify and minimize the impact of confounding factors, such as language, gender, age, and education level on cognitive decline. Objectives Aim is to provide appropriate, normative data to allow clinicians to identify disease-associated cognitive decline in diverse HD populations by compensating for the impact of confounding factors Methods Sample data, N  = 3267 (60.5% females; mean age of 46.9 years ( SD  = 14.61, range 18–86) of healthy controls were used to create a normative dataset. For each neuropsychological test, a Bayesian generalized additive model with age, education, gender, and language as predictors was constructed to appropriately stratify the normative dataset. Results With advancing age, there was a non-linear decline in cognitive performance. In addition, performance was dependent on educational levels and language in all tests. Gender had a more limited impact. Standardized scores have been calculated to ease the interpretation of an individual’s test outcome. A web-based online tool has been created to provide free access to normative data. Conclusion For defined neuropsychological tests, the impact of gender, age, education, and language as factors confounding disease-associated cognitive decline can be minimized at the level of a single patient examination.
    Type of Medium: Online Resource
    ISSN: 0340-5354 , 1432-1459
    URL: Article
    DOI: 10.1007/s00415-023-11823-x
    RVK:
    XA 10000
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2023
    detail.hit.zdb_id: 1421299-7
    Location Call Number Limitation Availability
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    Online Resource
  • 3
    Online Resource
    Online Resource
    Disease-modifying treatment approaches in Huntington disease : Past and future
    Springer Science and Business Media LLC ; 2022
    In:  Der Nervenarzt Vol. 93, No. 2 ( 2022-02), p. 179-190
    Details
    In: Der Nervenarzt, Springer Science and Business Media LLC, Vol. 93, No. 2 ( 2022-02), p. 179-190
    Abstract: Huntington disease (HD) is the most frequent monogenetic neurodegenerative disease and can be unequivocally diagnosed even in the preclinical stage, at least in all individuals in whom the CAG expansion mutation in the huntingtin gene ( HTT ) is in the range of full penetrance. Therefore, important preconditions for an intervention early in the disease process are met, rendering modification of the course of the disease in a clinically meaningful way possible. In this respect, HD can be viewed as a model disorder for exploring neuroprotective treatment approaches. In the past emphasis was placed on the compensation of a suspected neurotransmitter deficit (GABA) analogous to Parkinson’s disease and on classical neuroprotective strategies to influence hypothetical common pathways in neurodegenerative diseases (e.g., excitotoxicity, mitochondrial dysfunction, oxidative stress). With the discovery of the causative HTT mutation in 1993, therapeutic research increasingly focused on intervening as proximally as possible in the chain of pathophysiological events. Currently, an important point of intervention is the HTT mRNA with the aim of reducing the continued production of mutant huntingtin gene products and thus relieving the body of their detrimental actions. To this end, various treatment modalities (single-stranded DNA and RNA, divalent RNA and zinc finger repressor complexes, orally available splice modulators) were developed and are currently in clinical trials (phases I–III) or in late stages of preclinical development. In addition, there is the notion that it may be possible to modify the length of the somatically unstable CAG mutation, i.e. its increase in the brain during the lifetime, thereby slowing the progression of HD.
    Type of Medium: Online Resource
    ISSN: 0028-2804 , 1433-0407
    URL: Article
    DOI: 10.1007/s00115-021-01224-8
    RVK:
    XA 10000
    Language: German
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2022
    detail.hit.zdb_id: 1462945-8
    detail.hit.zdb_id: 123291-5
    SSG: 2,1
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