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Pol Andresbenito - One of the best experts on this subject based on the ideXlab platform.

  • transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type i neuroDegeneration
    Neuropathology and Applied Neurobiology, 2021
    Co-Authors: Antonio Jimenezmarin, Ibai Diez, Garazi Labayru, Andone Sistiaga, Maria Cristina Caballero, Pol Andresbenito
    Abstract:

    Aim To delineate the neurogenetic profiles of Brain Degeneration patterns in Myotonic Dystrophy Type I (DM1). Methods In two cohorts of DM1 patients, Brain maps of volume loss (VL) and neuropsychological deficits (ND) were intersected to large-scale transcriptome maps provided by the Allen Human Brain Atlas (AHBA). For validation, neuropathological and RNA analyses were performed in a small series of DM1 Brain samples. Results Two-fold: 1. From a list of preselected hypothesis-driven genes, confirmatory analyses found that three genes play a major role in Brain Degeneration: dystrophin (DMD), alpha-synuclein (SNCA) and the microtubule-associated protein tau (MAPT). Neuropathological analyses confirmed a highly heterogeneous Tau-pathology in DM1, different to the one in Alzheimer's disease. 2. Exploratory analyses revealed gene clusters enriched for key biological processes in the central nervous system, such as synaptic vesicle recycling, localization, endocytosis and exocytosis, and the serotonin and dopamine neurotransmitter pathways. RNA analyses confirmed synaptic vesicle dysfunction. Conclusions The combination of large-scale transcriptome interactions with Brain imaging and cognitive function sheds light on the neurobiological mechanisms of Brain Degeneration in DM1, that might help define future therapeutic strategies and research into this condition.

Barry E Kosofsky - One of the best experts on this subject based on the ideXlab platform.

  • Brain region specific Degeneration with disease progression in late infantile neuronal ceroid lipofuscinosis cln2 disease
    American Journal of Neuroradiology, 2016
    Co-Authors: Jonathan P Dyke, Dolan Sondhi, Henning U Voss, Kaleb Yohay, Charlene Hollmann, D Mancenido, Stephen M Kaminsky, Linda Heier, Kyle Rudser, Barry E Kosofsky
    Abstract:

    BACKGROUND AND PURPOSE: Late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is a uniformly fatal lysosomal storage disease resulting from mutations in the CLN2 gene. Our hypothesis was that regional analysis of cortical Brain Degeneration may identify Brain regions that are affected earliest and most severely by the disease. MATERIALS AND METHODS: Fifty-two high-resolution 3T MR imaging datasets were prospectively acquired on 38 subjects with CLN2. A retrospective cohort of 52 disease-free children served as a control population. The FreeSurfer software suite was used for calculation of cortical thickness. RESULTS: An increased rate of global cortical thinning in CLN2 versus control subjects was the primary finding in this study. Three distinct patterns were observed across Brain regions. In the first, subjects with CLN2 exhibited differing rates of cortical thinning versus age. This was true in 22 and 26 of 34 regions in the left and right hemispheres, respectively, and was also clearly discernable when considering Brain lobes as a whole and Brodmann regions. The second pattern exhibited a difference in thickness from healthy controls but with no discernable change with age (9 left hemispheres, 5 right hemispheres). In the third pattern, there was no difference in either the rate of cortical thinning or the mean cortical thickness between groups (3 left hemispheres, 3 right hemispheres). CONCLUSIONS: This study demonstrates that CLN2 causes differential rates of Degeneration across the Brain. Anatomic and functional regions that degenerate sooner and more severely than others compared with those in healthy controls may offer targets for directed therapies. The information gained may also provide neurobiologic insights regarding the mechanisms underlying disease progression.

  • Brain region specific Degeneration with disease progression in late infantile neuronal ceroid lipofuscinosis cln2 disease
    American Journal of Neuroradiology, 2016
    Co-Authors: Jonathan P Dyke, Dolan Sondhi, Henning U Voss, Kaleb Yohay, Charlene Hollmann, D Mancenido, Stephen M Kaminsky, Linda Heier, Kyle Rudser, Barry E Kosofsky
    Abstract:

    BACKGROUND AND PURPOSE: Late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is a uniformly fatal lysosomal storage disease resulting from mutations in the CLN2 gene. Our hypothesis was that regional analysis of cortical Brain Degeneration may identify Brain regions that are affected earliest and most severely by the disease. MATERIALS AND METHODS: Fifty-two high-resolution 3T MR imaging datasets were prospectively acquired on 38 subjects with CLN2. A retrospective cohort of 52 disease-free children served as a control population. The FreeSurfer software suite was used for calculation of cortical thickness. RESULTS: An increased rate of global cortical thinning in CLN2 versus control subjects was the primary finding in this study. Three distinct patterns were observed across Brain regions. In the first, subjects with CLN2 exhibited differing rates of cortical thinning versus age. This was true in 22 and 26 of 34 regions in the left and right hemispheres, respectively, and was also clearly discernable when considering Brain lobes as a whole and Brodmann regions. The second pattern exhibited a difference in thickness from healthy controls but with no discernable change with age (9 left hemispheres, 5 right hemispheres). In the third pattern, there was no difference in either the rate of cortical thinning or the mean cortical thickness between groups (3 left hemispheres, 3 right hemispheres). CONCLUSIONS: This study demonstrates that CLN2 causes differential rates of Degeneration across the Brain. Anatomic and functional regions that degenerate sooner and more severely than others compared with those in healthy controls may offer targets for directed therapies. The information gained may also provide neurobiologic insights regarding the mechanisms underlying disease progression.

Paul M Thompson - One of the best experts on this subject based on the ideXlab platform.

  • Brain structural changes following adaptive cognitive training assessed by tensor based morphometry tbm
    Neuropsychologia, 2016
    Co-Authors: Roberto Colom, Miguel Burgaleta, Francisco J Roman, Kenia Martinez, Jeffrey L Gunter, Susanna Carmona, Susanne M Jaeggi, Paul M Thompson
    Abstract:

    Tensor-Based Morphometry (TBM) allows the automatic mapping of Brain changes across time building 3D deformation maps. This technique has been applied for tracking Brain Degeneration in Alzheimer's and other neurodegenerative diseases with high sensitivity and reliability. Here we applied TBM to quantify changes in Brain structure after completing a challenging adaptive cognitive training program based on the n-back task. Twenty-six young women completed twenty-four training sessions across twelve weeks and they showed, on average, large cognitive improvements. High-resolution MRI scans were obtained before and after training. The computed longitudinal deformation maps were analyzed for answering three questions: (a) Are there differential Brain structural changes in the training group as compared with a matched control group? (b) Are these changes related to performance differences in the training program? (c) Are standardized changes in a set of psychological factors (fluid and crystallized intelligence, working memory, and attention control) measured before and after training, related to structural changes in the Brain? Results showed (a) greater structural changes for the training group in the temporal lobe, (b) a negative correlation between these changes and performance across training sessions (the greater the structural change, the lower the cognitive performance improvements), and (c) negligible effects regarding the psychological factors measured before and after training.

  • tensor based morphometry reveals volumetric deficits in moderate severe pediatric traumatic Brain injury
    Journal of Neurotrauma, 2016
    Co-Authors: Emily L Dennis, Julio E Villalonreina, Lisa M Moran, Claudia Kernan, Talin Babikian, Richard Mink, Christopher Babbitt, Jeffrey L Johnson, Christopher C Giza, Paul M Thompson
    Abstract:

    Abstract Traumatic Brain injury (TBI) can cause widespread and prolonged Brain Degeneration. TBI can affect cognitive function and Brain integrity for many years after injury, often with lasting effects in children, whose Brains are still immature. Although TBI varies in how it affects different individuals, image analysis methods such as tensor-based morphometry (TBM) can reveal common areas of Brain atrophy on magnetic resonance imaging (MRI), secondary effects of the initial injury, which will differ between subjects. Here we studied 36 pediatric moderate to severe TBI (msTBI) participants in the post-acute phase (1–6 months post-injury) and 18 msTBI participants who returned for their chronic assessment, along with well-matched controls at both time-points. Participants completed a battery of cognitive tests that we used to create a global cognitive performance score. Using TBM, we created three-dimensional (3D) maps of individual and group differences in regional Brain volumes. At both the post-acute...

Nancy M Bonini - One of the best experts on this subject based on the ideXlab platform.

  • dynamic neural and glial responses of a head specific model for traumatic Brain injury in drosophila
    Proceedings of the National Academy of Sciences of the United States of America, 2020
    Co-Authors: Janani Saikumar, China N Byrns, Matthew A Hemphill, David F Meaney, Nancy M Bonini
    Abstract:

    Traumatic Brain injury (TBI) is the strongest environmental risk factor for the accelerated development of neurodegenerative diseases. There are currently no therapeutics to address this due to lack of insight into mechanisms of injury progression, which are challenging to study in mammalian models. Here, we have developed and extensively characterized a head-specific approach to TBI in Drosophila, a powerful genetic system that shares many conserved genes and pathways with humans. The Drosophila TBI (dTBI) device inflicts mild, moderate, or severe Brain trauma by precise compression of the head using a piezoelectric actuator. Head-injured animals display features characteristic of mammalian TBI, including severity-dependent ataxia, life span reduction, and Brain Degeneration. Severe dTBI is associated with cognitive decline and transient glial dysfunction, and stimulates antioxidant, proteasome, and chaperone activity. Moreover, genetic or environmental augmentation of the stress response protects from severe dTBI-induced Brain Degeneration and life span deficits. Together, these findings present a tunable, head-specific approach for TBI in Drosophila that recapitulates mammalian injury phenotypes and underscores the ability of the stress response to mitigate TBI-induced Brain Degeneration.

  • the microrna mir 34 modulates ageing and neuroDegeneration in drosophila
    Nature, 2012
    Co-Authors: Nan Liu, Michael Landreh, Kajia Cao, Masashi Abe, Gertjan Hendriks, Jason R Kennerdell, Yongqing Zhu, Lisan Wang, Nancy M Bonini
    Abstract:

    Human neurodegenerative diseases have the temporal hallmark of afflicting the elderly population. Ageing is one of the most prominent factors to influence disease onset and progression, yet little is known about the molecular pathways that connect these processes. To understand this connection it is necessary to identify the pathways that functionally integrate ageing, chronic maintenance of the Brain and modulation of neurodegenerative disease. MicroRNAs (miRNA) are emerging as critical factors in gene regulation during development; however, their role in adult-onset, age-associated processes is only beginning to be revealed. Here we report that the conserved miRNA miR-34 regulates age-associated events and long-term Brain integrity in Drosophila, providing a molecular link between ageing and neuroDegeneration. Fly mir-34 expression exhibits adult-onset, Brain-enriched and age-modulated characteristics. Whereas mir-34 loss triggers a gene profile of accelerated Brain ageing, late-onset Brain Degeneration and a catastrophic decline in survival, mir-34 upregulation extends median lifespan and mitigates neuroDegeneration induced by human pathogenic polyglutamine disease protein. Some of the age-associated effects of miR-34 require adult-onset translational repression of Eip74EF, an essential ETS domain transcription factor involved in steroid hormone pathways. Our studies indicate that miRNA-dependent pathways may have an impact on adult-onset, age-associated events by silencing developmental genes that later have a deleterious influence on adult life cycle and disease, and highlight fly miR-34 as a key miRNA with a role in this process.

  • chaperoning Brain Degeneration
    Proceedings of the National Academy of Sciences of the United States of America, 2002
    Co-Authors: Nancy M Bonini
    Abstract:

    Drosophila has emerged as a premiere model system for the study of human neurodegenerative disease. Genes associated with neuroDegeneration can be expressed in flies, causing phenotypes remarkably similar to those of the counterpart human diseases. Because human neurodegenerative diseases, including Huntington's and Parkinson's diseases, are disorders for which few cures or treatments are available, Drosophila brings to bear powerful genetics to the problem of these diseases. The molecular chaperones were the first modifiers defined that interfere in the progression of such disease phenotypes in Drosophila. Hsp70 is a potent suppressor of both polyglutamine disease and Parkinson's disease in Drosophila. These studies provide the promise of treatments for human neuroDegeneration through the up-regulation of stress and chaperone pathways.

Peggy Bosch - One of the best experts on this subject based on the ideXlab platform.

  • A study of the effects of 8-week acupuncture treatment on patients with Parkinson's disease
    Medicine, 2018
    Co-Authors: Maurits Van Den Noort, Peggy Bosch
    Abstract:

    Background: Parkinson's disease (PD) is a degenerative Brain disorder, resulting in decreased neural responses in the supplementary motor area, putamen, and thalamus. Previous research showed that acupuncture was able to improve the motor dysfunction. The primary aim of this study is to assess the efficacy of longer acupuncture treatment for preventing Brain Degeneration in patients with PD. Methods: Ten outpatients with PD were recruited from Kyung Hee Medical Hospital. Behavioral and neural responses were examined before and after 8 weeks of acupuncture treatment. A semi-individualized treatment approach was used; patients were treated for 15 minutes with 120-Hz electro-acupuncture at the right GB34 and Taechung (LR3), followed by manual acupuncture based on the individual symptoms of the patient. Results: Immediately after 8 weeks of acupuncture treatment, the Unified Parkinson's Disease Rating Scale (UPDRS) sub-scores and the depression scores for the patients had statistically decreased compared to the scores before acupuncture treatment; moreover, 8 weeks later, these scores remained stable. Compared to the neural responses before the acupuncture stimulation, those after the acupuncture treatment were significantly higher in the thalamus, cingulate gyrus, anterior cingulate, lingual gyrus, parahippocampal gyrus, lateral globus pallidus, mammillary body, middle temporal gyrus, cuneus, and fusiform gyrus. Finally, a positive correlation was found between the UPDRS and the mean magnetic resonance signal change for the thalamus. Conclusion: This study found beneficial clinical effects of 8-week acupuncture treatment in the Brains of patients with PD.