3 recherche sur le mot-clé 'Lysosomal storage disorder'

Symptoms of Autism Spectrum Disorder (ASD) in Individuals with Mucopolysaccharide Disease Type III (Sanfilippo Syndrome): A Systematic Review / C. WOLFENDEN in Journal of Autism and Developmental Disorders, 47-11 (November 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-11 (November 2017) . - p.3620-3633 Titre : Symptoms of Autism Spectrum Disorder (ASD) in Individuals with Mucopolysaccharide Disease Type III (Sanfilippo Syndrome): A Systematic Review Type de document : texte imprimé Auteurs : C. WOLFENDEN, Auteur ; A. WITTKOWSKI, Auteur ; Dougal Julian HARE, Auteur Article en page(s) : p.3620-3633 Langues : Anglais (eng) Mots-clés : Asd  Behavioural difficulties  Developmental disorder  Lysosomal storage disorder  Mucopolysacchardosis  Speech/language delay Index. décimale : PER Périodiques Résumé : The prevalence of autism spectrum disorder (ASD) in many genetic disorders is well documented but not as yet in Mucopolysaccharidosis type III (MPS III). MPS III is a recessively inherited metabolic disorder and evidence suggests that symptoms of ASD present in MPS III. This systematic review examined the extant literature on the symptoms of ASD in MPS III and quality assessed a total of 16 studies. Results indicated that difficulties within speech, language and communication consistent with ASD were present in MPS III, whilst repetitive and restricted behaviours and interests were less widely reported. The presence of ASD-like symptoms can result in late diagnosis or misdiagnosis of MPS III and prevent opportunities for genetic counselling and the provision of treatments. En ligne : http://dx.doi.org/10.1007/s10803-017-3262-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=325 [article] Symptoms of Autism Spectrum Disorder (ASD) in Individuals with Mucopolysaccharide Disease Type III (Sanfilippo Syndrome): A Systematic Review [texte imprimé] / C. WOLFENDEN, Auteur ; A. WITTKOWSKI, Auteur ; Dougal Julian HARE, Auteur . - p.3620-3633. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-11 (November 2017) . - p.3620-3633 Mots-clés : Asd  Behavioural difficulties  Developmental disorder  Lysosomal storage disorder  Mucopolysacchardosis  Speech/language delay Index. décimale : PER Périodiques Résumé : The prevalence of autism spectrum disorder (ASD) in many genetic disorders is well documented but not as yet in Mucopolysaccharidosis type III (MPS III). MPS III is a recessively inherited metabolic disorder and evidence suggests that symptoms of ASD present in MPS III. This systematic review examined the extant literature on the symptoms of ASD in MPS III and quality assessed a total of 16 studies. Results indicated that difficulties within speech, language and communication consistent with ASD were present in MPS III, whilst repetitive and restricted behaviours and interests were less widely reported. The presence of ASD-like symptoms can result in late diagnosis or misdiagnosis of MPS III and prevent opportunities for genetic counselling and the provision of treatments. En ligne : http://dx.doi.org/10.1007/s10803-017-3262-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=325

Characterization of early markers of disease in the mouse model of mucopolysaccharidosis IIIB / Katherine B. MCCULLOUGH in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Characterization of early markers of disease in the mouse model of mucopolysaccharidosis IIIB Type de document : texte imprimé Auteurs : Katherine B. MCCULLOUGH, Auteur ; Amanda TITUS, Auteur ; Kate REARDON, Auteur ; Sara CONYERS, Auteur ; Joseph D. DOUGHERTY, Auteur ; Xia GE, Auteur ; Joel R. GARBOW, Auteur ; Patricia DICKSON, Auteur ; Carla M. YUEDE, Auteur ; Susan E. MALONEY, Auteur Langues : Anglais (eng) Mots-clés : Humans  Animals  Adult  Child  Mucopolysaccharidosis III/genetics/pathology  Diffusion Tensor Imaging  Brain  Disease Models, Animal  Treatment Outcome  Aggression  Dominance  Fear conditioning  Gait  Lysosomal storage disorder  Mri/dti  Mucopolysaccharidosis IIIB  Sanfilippo B  Startle response  Ultrasonic vocalization Index. décimale : PER Périodiques Résumé : BACKGROUND: Mucopolysaccharidosis (MPS) IIIB, also known as Sanfilippo Syndrome B, is a devastating childhood disease. Unfortunately, there are currently no available treatments for MPS IIIB patients. Yet, animal models of lysosomal storage diseases have been valuable tools in identifying promising avenues of treatment. Enzyme replacement therapy, gene therapy, and bone marrow transplant have all shown efficacy in the MPS IIIB model systems. A ubiquitous finding across rodent models of lysosomal storage diseases is that the best treatment outcomes resulted from intervention prior to symptom onset. Therefore, the aim of the current study was to identify early markers of disease in the MPS IIIB mouse model as well as examine clinically-relevant behavioral domains not yet explored in this model. METHODS: Using the MPS IIIB mouse model, we explored early developmental trajectories of communication and gait, and later social behavior, fear-related startle and conditioning, and visual capabilities. In addition, we examined brain structure and function via magnetic resonance imaging and diffusion tensor imaging. RESULTS: We observed reduced maternal isolation-induced ultrasonic vocalizations in MPS IIIB mice relative to controls, as well as disruption in a number of the spectrotemporal features. MPS IIIB also exhibited disrupted thermoregulation during the first two postnatal weeks without any differences in body weight. The developmental trajectories of gait were largely normal. In early adulthood, we observed intact visual acuity and sociability yet a more submissive phenotype, increased aggressive behavior, and decreased social sniffing relative to controls. MPS IIIB mice showed greater inhibition of startle in response to a pretone with a decrease in overall startle response and reduced cued fear memory. MPS IIIB also weighed significantly more than controls throughout adulthood and showed larger whole brain volumes and normalized regional volumes with intact tissue integrity as measured with magnetic resonance and diffusion tensor imaging, respectively. CONCLUSIONS: Together, these results indicate disease markers are present as early as the first two weeks postnatal in this model. Further, this model recapitulates social, sensory and fear-related clinical features. Our study using a mouse model of MPS IIIB provides essential baseline information that will be useful in future evaluations of potential treatments. En ligne : https://dx.doi.org/10.1186/s11689-024-09534-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Characterization of early markers of disease in the mouse model of mucopolysaccharidosis IIIB [texte imprimé] / Katherine B. MCCULLOUGH, Auteur ; Amanda TITUS, Auteur ; Kate REARDON, Auteur ; Sara CONYERS, Auteur ; Joseph D. DOUGHERTY, Auteur ; Xia GE, Auteur ; Joel R. GARBOW, Auteur ; Patricia DICKSON, Auteur ; Carla M. YUEDE, Auteur ; Susan E. MALONEY, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Animals  Adult  Child  Mucopolysaccharidosis III/genetics/pathology  Diffusion Tensor Imaging  Brain  Disease Models, Animal  Treatment Outcome  Aggression  Dominance  Fear conditioning  Gait  Lysosomal storage disorder  Mri/dti  Mucopolysaccharidosis IIIB  Sanfilippo B  Startle response  Ultrasonic vocalization Index. décimale : PER Périodiques Résumé : BACKGROUND: Mucopolysaccharidosis (MPS) IIIB, also known as Sanfilippo Syndrome B, is a devastating childhood disease. Unfortunately, there are currently no available treatments for MPS IIIB patients. Yet, animal models of lysosomal storage diseases have been valuable tools in identifying promising avenues of treatment. Enzyme replacement therapy, gene therapy, and bone marrow transplant have all shown efficacy in the MPS IIIB model systems. A ubiquitous finding across rodent models of lysosomal storage diseases is that the best treatment outcomes resulted from intervention prior to symptom onset. Therefore, the aim of the current study was to identify early markers of disease in the MPS IIIB mouse model as well as examine clinically-relevant behavioral domains not yet explored in this model. METHODS: Using the MPS IIIB mouse model, we explored early developmental trajectories of communication and gait, and later social behavior, fear-related startle and conditioning, and visual capabilities. In addition, we examined brain structure and function via magnetic resonance imaging and diffusion tensor imaging. RESULTS: We observed reduced maternal isolation-induced ultrasonic vocalizations in MPS IIIB mice relative to controls, as well as disruption in a number of the spectrotemporal features. MPS IIIB also exhibited disrupted thermoregulation during the first two postnatal weeks without any differences in body weight. The developmental trajectories of gait were largely normal. In early adulthood, we observed intact visual acuity and sociability yet a more submissive phenotype, increased aggressive behavior, and decreased social sniffing relative to controls. MPS IIIB mice showed greater inhibition of startle in response to a pretone with a decrease in overall startle response and reduced cued fear memory. MPS IIIB also weighed significantly more than controls throughout adulthood and showed larger whole brain volumes and normalized regional volumes with intact tissue integrity as measured with magnetic resonance and diffusion tensor imaging, respectively. CONCLUSIONS: Together, these results indicate disease markers are present as early as the first two weeks postnatal in this model. Further, this model recapitulates social, sensory and fear-related clinical features. Our study using a mouse model of MPS IIIB provides essential baseline information that will be useful in future evaluations of potential treatments. En ligne : https://dx.doi.org/10.1186/s11689-024-09534-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN) / Tufikameni BRIMA in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN) Type de document : texte imprimé Auteurs : Tufikameni BRIMA, Auteur ; Edward G. FREEDMAN, Auteur ; Kevin D. PRINSLOO, Auteur ; Erika F. AUGUSTINE, Auteur ; Heather R. ADAMS, Auteur ; Kuan Hong WANG, Auteur ; Jonathan W. MINK, Auteur ; Luke H. SHAW, Auteur ; Emma P. MANTEL, Auteur ; John J. FOXE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Neuronal Ceroid-Lipofuscinoses/complications  Auditory Perception  Evoked Potentials, Auditory  Memory  Brain  Membrane Glycoproteins  Molecular Chaperones  Eeg  Erp  Event-related potential  Jncl  Lysosomal storage disorder  Neurodegenerative disease  Neurodevelopmental disorder  would bias the work reported herein. Index. décimale : PER Périodiques Résumé : BACKGROUND: We interrogated auditory sensory memory capabilities in individuals with CLN3 disease (juvenile neuronal ceroid lipofuscinosis), specifically for the feature of "duration" processing. Given decrements in auditory processing abilities associated with later-stage CLN3 disease, we hypothesized that the duration-evoked mismatch negativity (MMN) of the event related potential (ERP) would be a marker of progressively atypical cortical processing in this population, with potential applicability as a brain-based biomarker in clinical trials. METHODS: We employed three stimulation rates (fast: 450 ms, medium: 900 ms, slow: 1800 ms), allowing for assessment of the sustainability of the auditory sensory memory trace. The robustness of MMN directly relates to the rate at which the regularly occurring stimulus stream is presented. As presentation rate slows, robustness of the sensory memory trace diminishes. By manipulating presentation rate, the strength of the sensory memory trace is parametrically varied, providing greater sensitivity to detect auditory cortical dysfunction. A secondary hypothesis was that duration-evoked MMN abnormalities in CLN3 disease would be more severe at slower presentation rates, resulting from greater demand on the sensory memory system. RESULTS: Data from individuals with CLN3 disease (N = 21; range 6-28 years of age) showed robust MMN responses (i.e., intact auditory sensory memory processes) at the medium stimulation rate. However, at the fastest rate, MMN was significantly reduced, and at the slowest rate, MMN was not detectable in CLN3 disease relative to neurotypical controls (N = 41; ages 6-26 years). CONCLUSIONS: Results reveal emerging insufficiencies in this critical auditory perceptual system in individuals with CLN3 disease. En ligne : https://dx.doi.org/10.1186/s11689-023-09515-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN) [texte imprimé] / Tufikameni BRIMA, Auteur ; Edward G. FREEDMAN, Auteur ; Kevin D. PRINSLOO, Auteur ; Erika F. AUGUSTINE, Auteur ; Heather R. ADAMS, Auteur ; Kuan Hong WANG, Auteur ; Jonathan W. MINK, Auteur ; Luke H. SHAW, Auteur ; Emma P. MANTEL, Auteur ; John J. FOXE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Neuronal Ceroid-Lipofuscinoses/complications  Auditory Perception  Evoked Potentials, Auditory  Memory  Brain  Membrane Glycoproteins  Molecular Chaperones  Eeg  Erp  Event-related potential  Jncl  Lysosomal storage disorder  Neurodegenerative disease  Neurodevelopmental disorder  would bias the work reported herein. Index. décimale : PER Périodiques Résumé : BACKGROUND: We interrogated auditory sensory memory capabilities in individuals with CLN3 disease (juvenile neuronal ceroid lipofuscinosis), specifically for the feature of "duration" processing. Given decrements in auditory processing abilities associated with later-stage CLN3 disease, we hypothesized that the duration-evoked mismatch negativity (MMN) of the event related potential (ERP) would be a marker of progressively atypical cortical processing in this population, with potential applicability as a brain-based biomarker in clinical trials. METHODS: We employed three stimulation rates (fast: 450 ms, medium: 900 ms, slow: 1800 ms), allowing for assessment of the sustainability of the auditory sensory memory trace. The robustness of MMN directly relates to the rate at which the regularly occurring stimulus stream is presented. As presentation rate slows, robustness of the sensory memory trace diminishes. By manipulating presentation rate, the strength of the sensory memory trace is parametrically varied, providing greater sensitivity to detect auditory cortical dysfunction. A secondary hypothesis was that duration-evoked MMN abnormalities in CLN3 disease would be more severe at slower presentation rates, resulting from greater demand on the sensory memory system. RESULTS: Data from individuals with CLN3 disease (N = 21; range 6-28 years of age) showed robust MMN responses (i.e., intact auditory sensory memory processes) at the medium stimulation rate. However, at the fastest rate, MMN was significantly reduced, and at the slowest rate, MMN was not detectable in CLN3 disease relative to neurotypical controls (N = 41; ages 6-26 years). CONCLUSIONS: Results reveal emerging insufficiencies in this critical auditory perceptual system in individuals with CLN3 disease. En ligne : https://dx.doi.org/10.1186/s11689-023-09515-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575