GLORIA

GEOMAR Library Ocean Research Information Access

X

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 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
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 2
    Online Resource
    Online Resource
    PET Molecular Imaging of Phosphodiesterase 10A: An Early Biomarker of Huntington's Disease Progression
    Wiley ; 2020
    In:  Movement Disorders Vol. 35, No. 4 ( 2020-04), p. 606-615
    Details
    In: Movement Disorders, Wiley, Vol. 35, No. 4 ( 2020-04), p. 606-615
    Abstract: Changes in phosphodiesterase 10A enzyme levels may be a suitable biomarker of disease progression in Huntington's disease. Objectives To evaluate phosphodiesterase 10A PET imaging as a biomarker of HD progression using the radioligand, [ 18 F]MNI‐659. Methods The cross‐sectional study (NCT02061722) included 45 Huntington's disease gene‐expansion carriers stratified into four disease stages (early and late premanifest and Huntington's disease stages 1 and 2) and 45 age‐ and sex‐matched healthy controls. The primary analysis compared striatal and pallidal phosphodiesterase 10A availability between Huntington's disease gene‐expansion carriers and healthy controls as assessed by [ 18 F]MNI‐659 binding. We assessed changes in phosphodiesterase 10A expression using several PET methodologies and compared with previously proposed measures of Huntington's disease progression (PET imaging of D 2/3 receptors and anatomical volume loss on MRI). The longitudinal follow‐up study (NCT02956148) continued evaluation of phosphodiesterase 10A availability in 35 Huntington's disease gene‐expansion carriers at a mean of 18 months from baseline of the cross‐sectional study. Results Primary analyses revealed that phosphodiesterase 10A availability in caudate, putamen, and globus pallidus was significantly lower in Huntington's disease gene‐expansion carriers versus healthy controls across all stages. Striatal and pallidal phosphodiesterase 10A availability progressively declined in the premanifest stages and appeared to plateau between stages 1 and 2. The percentage decline of phosphodiesterase 10A availability measured cross‐sectionally between Huntington's disease gene‐expansion carriers and healthy controls was greater than that demonstrated by D 2/3 receptor availability or volumetric changes. Annualized rates of phosphodiesterase 10A change showed a statistically significant decline between the cross‐sectional study and follow‐up. Conclusions [ 18 F]MNI‐659 PET imaging is a biologically plausible biomarker of Huntington's disease progression that is more sensitive than the dopamine‐receptor and volumetric methods currently used. © 2020 International Parkinson and Movement Disorder Society
    Type of Medium: Online Resource
    ISSN: 0885-3185 , 1531-8257
    URL: Issue
    URL: Article
    DOI: 10.1002/mds.v35.4
    DOI: 10.1002/mds.27963
    RVK:
    XA 10000
    Language: English
    Publisher: Wiley
    Publication Date: 2020
    detail.hit.zdb_id: 2041249-6
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 3
    Online Resource
    Online Resource
    Relationship of serum beta‐synuclein with blood biomarkers and brain atrophy
    Wiley ; 2023
    In:  Alzheimer's & Dementia Vol. 19, No. 4 ( 2023-04), p. 1358-1371
    Details
    In: Alzheimer's & Dementia, Wiley, Vol. 19, No. 4 ( 2023-04), p. 1358-1371
    Abstract: Recent data support beta‐synuclein as a blood biomarker to study synaptic degeneration in Alzheimer's disease (AD). Methods We provide a detailed comparison of serum beta‐synuclein immunoprecipitation – mass spectrometry (IP‐MS) with the established blood markers phosphorylated tau 181 (p‐tau181) (Simoa) and neurofilament light (NfL) (Ella) in the German FTLD consortium cohort ( n  = 374) and its relation to brain atrophy (magnetic resonance imaging) and cognitive scores. Results Serum beta‐synuclein was increased in AD but not in frontotemporal lobar degeneration (FTLD) syndromes. Beta‐synuclein correlated with atrophy in temporal brain structures and was associated with cognitive impairment. Serum p‐tau181 showed the most specific changes in AD but the lowest correlation with structural alterations. NfL was elevated in all diseases and correlated with frontal and temporal brain atrophy. Discussion Serum beta‐synuclein changes differ from those of NfL and p‐tau181 and are strongly related to AD, most likely reflecting temporal synaptic degeneration. Beta‐synuclein can complement the existing panel of blood markers, thereby providing information on synaptic alterations. Highlights Blood beta‐synuclein is increased in Alzheimer's disease (AD) but not in frontotemporal lobar degeneration (FTLD) syndromes. Blood beta‐synuclein correlates with temporal brain atrophy in AD. Blood beta‐synuclein correlates with cognitive impairment in AD. The pattern of blood beta‐synuclein changes in the investigated diseases is different to phosphorylated tau 181 (p‐tau181) and neurofilament light (NfL).
    Type of Medium: Online Resource
    ISSN: 1552-5260 , 1552-5279
    URL: Issue
    URL: Article
    DOI: 10.1002/alz.v19.4
    DOI: 10.1002/alz.12790
    Language: English
    Publisher: Wiley
    Publication Date: 2023
    detail.hit.zdb_id: 2201940-6
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 4
    Online Resource
    Online Resource
    Commentary: Acanthocytes identified in Huntington's disease
    Frontiers Media SA ; 2022
    In:  Frontiers in Neuroscience Vol. 16 ( 2022-11-4)
    Details
    In: Frontiers in Neuroscience, Frontiers Media SA, Vol. 16 ( 2022-11-4)
    Type of Medium: Online Resource
    ISSN: 1662-453X
    URL: Article
    DOI: 10.3389/fnins.2022.1049676
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2411902-7
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 5
    Online Resource
    Online Resource
    Monitoring the Motor Phenotype in Huntington’s Disease by Analysis of Keyboard Typing During Real Life Computer Use
    IOS Press ; 2021
    In:  Journal of Huntington's Disease Vol. 10, No. 2 ( 2021-06-09), p. 259-268
    Details
    In: Journal of Huntington's Disease, IOS Press, Vol. 10, No. 2 ( 2021-06-09), p. 259-268
    Abstract: Background: Besides cognitive and psychiatric abnormalities, motor symptoms are the most prominent in Huntington’s disease. The manifest disease is preceded by a prodromal phase with subtle changes such as fine motor disturbances or concentration problems. Objective: Movement disorders show a high variation in their clinical manifestation depending on condition and external influences. Therefore, devices for continuous measurements, which patients use in their daily life and which can monitor motor abnormalities, in addition to the medical examination, might be useful. The aim of current scientific efforts is to find markers that reflect the prodromal phase in gene carriers. This is important for future interventional studies, as future therapies should be applied at the stage of neuronal dysfunction, i.e., before the clinical manifestation. Methods: We performed a software-supported, continuous monitoring of keyboard typing on the participants’ own computer to evaluate this method as a tool to assess the motor phenotype in HD. We included 40 participants and obtained sufficient data from 25 participants, 12 of whom were manifest HD patients, 7 HD gene expansion carriers (HDGEC) and 6 healthy controls. Results: In a cross-sectional analysis we found statistically significant higher typing inconsistency in HD patients compared to controls. Typing inconsistency compared between HDGEC and healthy controls showed a trend to higher inconsistency levels in HDGEC. We found correlations between typing cadence and clinical scores: the UHDRS finger tapping item, the composite UHDRS and the CAP score. Conclusion: The typing cadence inconsistency is an appropriate marker to evaluate fine motor skills of HD patients and HDGEC and is correlated to established clinical measurements.
    Type of Medium: Online Resource
    ISSN: 1879-6397 , 1879-6400
    URL: Article
    DOI: 10.3233/JHD-200451
    Language: Unknown
    Publisher: IOS Press
    Publication Date: 2021
    detail.hit.zdb_id: 2673033-9
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 6
    Online Resource
    Online Resource
    Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases
    Springer Science and Business Media LLC ; 2021
    In:  Orphanet Journal of Rare Diseases Vol. 16, No. 1 ( 2021-12)
    Details
    In: Orphanet Journal of Rare Diseases, Springer Science and Business Media LLC, Vol. 16, No. 1 ( 2021-12)
    Abstract: Patient involvement in research increases the impact of research and the likelihood of adoption in clinical practice. A first step is to know which research themes are important for patients. We distributed a survey on research priorities to ERN-RND members, both patient representatives and healthcare professionals, asking them to prioritize five research themes for rare neurological diseases on a scale ranging from 1 (most important) to 5 (least important). A follow-up e-mail interview was conducted with patient representatives and professionals to assess potential reasons for differences in opinions between these two groups. Results In total, 156 responses were analysed: 61 from professionals and 95 from patient representatives. They covered all ERN-RND disease groups and came from 20 different EU countries. Almost half of the respondents considered ‘Developing therapies and preventive strategies’ the most important research theme. In particular, patient representatives prioritized this theme more often than professionals, while professionals prioritized ‘Disease mechanisms and models’. Patient representatives indicated that therapies and prevention were of the utmost importance to them, because their lives are often heavily impacted by the disease and their main goal is to relief the burden of disease. Professionals indicated that investigating disease mechanisms will lead to more knowledge and is indispensable for finding new treatments. Conclusions Patients and professionals have different opinions on which research theme should have priority. A qualitative follow-up shows that they respect each others’ view points. Different stakeholders involved in research should be aware of their differences in research theme priority. Explaining these differences to each other leads to more understanding, and could improve patient engagement in research. Graphical Abstract
    Type of Medium: Online Resource
    ISSN: 1750-1172
    URL: Article
    DOI: 10.1186/s13023-020-01641-z
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2021
    detail.hit.zdb_id: 2225857-7
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 7
    Online Resource
    Online Resource
    Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease
    Ovid Technologies (Wolters Kluwer Health) ; 2021
    In:  Neurology Vol. 96, No. 19 ( 2021-05-11), p. e2395-e2406
    Details
    In: Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 96, No. 19 ( 2021-05-11), p. e2395-e2406
    Abstract: To assess the prevalence, timing, and functional impact of psychiatric, cognitive, and motor abnormalities in Huntington disease (HD) gene carriers, we analyzed retrospective clinical data from individuals with manifest HD. Methods Clinical features of patients with HD were analyzed for 6,316 individuals in an observational study of the European Huntington's Disease Network (REGISTRY) from 161 sites across 17 countries. Data came from clinical history and the patient-completed Clinical Characteristics Questionnaire that assessed 8 symptoms: motor, cognitive, apathy, depression, perseverative/obsessive behavior, irritability, violent/aggressive behavior, and psychosis. Multiple logistic regression was used to analyze relationships between symptoms and functional outcomes. Results The initial manifestation of HD is increasingly likely to be motor and less likely to be psychiatric as age at presentation increases and is independent of pathogenic CAG repeat length. The Clinical Characteristics Questionnaire captures data on nonmotor symptom prevalence that correlate specifically with validated clinical measures. Psychiatric and cognitive symptoms are common in HD gene carriers, with earlier onsets associated with longer CAG repeats. Of patients with HD, 42.4% reported at least 1 psychiatric or cognitive symptom before motor symptoms, with depression most common. Each nonmotor symptom was associated with significantly reduced total functional capacity scores. Conclusions Psychiatric and cognitive symptoms are common and functionally debilitating in HD gene carriers. They require recognition and targeting with clinical outcome measures and treatments. However, because it is impossible to distinguish confidently between nonmotor symptoms arising from HD and primary psychiatric disorders, particularly in younger premanifest patients, nonmotor symptoms should not be used to make a clinical diagnosis of HD. Trial Registration Information ClinicalTrials.gov Identifier: NCT01590589
    Type of Medium: Online Resource
    ISSN: 0028-3878 , 1526-632X
    URL: Article
    DOI: 10.1212/WNL.0000000000011893
    RVK:
    XA 10000
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2021
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 8
    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
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 9
    Online Resource
    Online Resource
    Motor speech disorders in the nonfluent, semantic and logopenic variants of primary progressive aphasia
    Elsevier BV ; 2021
    In:  Cortex Vol. 140 ( 2021-07), p. 66-79
    Details
    In: Cortex, Elsevier BV, Vol. 140 ( 2021-07), p. 66-79
    Type of Medium: Online Resource
    ISSN: 0010-9452
    URL: Article
    DOI: 10.1016/j.cortex.2021.03.017
    RVK:
    XA 10000
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2021
    detail.hit.zdb_id: 2080335-7
    SSG: 12
    SSG: 5,2
    SSG: 5,21
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 10
    Online Resource
    Online Resource
    How to Arrange Follow-Up Time-Intervals for Longitudinal Brain MRI Studies in Neurodegenerative Diseases
    Frontiers Media SA ; 2021
    In:  Frontiers in Neuroscience Vol. 15 ( 2021-7-15)
    Details
    In: Frontiers in Neuroscience, Frontiers Media SA, Vol. 15 ( 2021-7-15)
    Abstract: Longitudinal brain MRI monitoring in neurodegeneration potentially provides substantial insights into the temporal dynamics of the underlying biological process, but is time- and cost-intensive and may be a burden to patients with disabling neurological diseases. Thus, the conceptualization of follow-up time-intervals in longitudinal MRI studies is an essential challenge and substantial for the results. The objective of this work is to discuss the association of time-intervals and the results of longitudinal trends in the frequently used design of one baseline and two follow-up scans. Methods Different analytical approaches for calculating the linear trend of longitudinal parameters were studied in simulations including their performance of dealing with outliers; these simulations were based on the longitudinal striatum atrophy in MRI data of Huntington’s disease patients, detected by atlas-based volumetry (ABV). Results For the design of one baseline and two follow-up visits, the simulations with outliers revealed optimum results for identical time-intervals between baseline and follow-up scans. However, identical time-intervals between the three acquisitions lead to the paradox that, depending on the fit method, the first follow-up scan results do not influence the final results of a linear trend analysis. Conclusions This theoretical study analyses how the design of longitudinal imaging studies with one baseline and two follow-up visits influences the results. Suggestions for the analysis of longitudinal trends are provided.
    Type of Medium: Online Resource
    ISSN: 1662-453X
    URL: Article
    DOI: 10.3389/fnins.2021.682812
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
    detail.hit.zdb_id: 2411902-7
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...