Juvenile Huntington S Disease
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Juvenile Onset Huntington S Disease
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Author : Peggy C. Nopoulos
language : en
Publisher: MDPI
Release Date : 2021-01-14
Juvenile Onset Huntington S Disease written by Peggy C. Nopoulos and has been published by MDPI this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-01-14 with Science categories.
The Special Issue “Juvenile Onset Huntington’s Disease” highlights the growing interest in understanding the unique aspects of this ultra-rare disorder. After decades of research, gene therapy trials are underway for Adult Onset Huntington’s Disease (AOHD). However, patients with Juvenile Onset Huntington’s Disease (JOHD) are often excluded from these efforts, leaving many questions regarding its phenomenology. The current issue includes seven articles spanning work on the difficult emotional experiences of parents of children with JOHD; a review of the clinical manifestations of JOHD; behavioral issues in JOHD; CAG repeat and age of motor onset; autonomic nervous system dysfunction; and abnormality in MRI metabolic markers. Finally, a review of the therapeutic advances is included, highlighting future possibilities of clinical trials in JOHD subjects. The HD community—patients, family members at-risk for HD, caregivers, health-care professionals and scientists—is keen on expanding our understanding of JOHD. In the flurry of research on AOHD, those with JOHD were seemingly ‘left behind.’ The study of patients who are afflicted early in life with HD has become imperative, with this Special Issue representing just the beginning of the required effort to address this urgent need.
Juvenile Huntington S Disease
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Author : Oliver W. J. Quarrell
language : en
Publisher: OUP Oxford
Release Date : 2009-01-08
Juvenile Huntington S Disease written by Oliver W. J. Quarrell and has been published by OUP Oxford this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009-01-08 with Medical categories.
Huntington's disease (HD) is an inherited progressive neurodegenerative disorder. Although onset of Huntington's Disease usually occurs in adulthood, the age of onset of the condition is extremely variable with approximately 5-10% of cases having an onset of less than 20 years, or Juvenile Huntington's Disease (JHD). While JHD shares many of the clinical features of adult HD (e.g., chorea and personality disorders), patients with JHD often experience additional problems including seizures, dystonia and Parkinsonism. Diagnosis in patients with JHD is often delayed because of the failure of clinicians to recognise the characteristic features of the condition. While several textbooks have been published on HD, no books have been published to date focussing solely on the juvenile onset form of the disease. This book summarises, for the first time, the clinical and scientific knowledge available on JHD. It also collects together accounts from families affected by the condition, putting the clinical and scientific chapters into context. Edited by members of the working group on Juvenile Huntington's Disease within the European Huntington Disease Network (EHDN), this book forms the first comprehensive text on JHD and is of interest to neurologists, geneticists, academic/research scientists and other healthcare professionals.
Living With Juvenile Huntington S Disease
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Author : Huntington Society of Canada
language : en
Publisher:
Release Date : 1997
Living With Juvenile Huntington S Disease written by Huntington Society of Canada and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1997 with Children categories.
Juvenile Onset Huntington S Disease
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Author : Peggy C. Nopoulos
language : en
Publisher:
Release Date : 2021
Juvenile Onset Huntington S Disease written by Peggy C. Nopoulos and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021 with categories.
The Special Issue “Juvenile Onset Huntington's Disease” highlights the growing interest in understanding the unique aspects of this ultra-rare disorder. After decades of research, gene therapy trials are underway for Adult Onset Huntington's Disease (AOHD). However, patients with Juvenile Onset Huntington's Disease (JOHD) are often excluded from these efforts, leaving many questions regarding its phenomenology. The current issue includes seven articles spanning work on the difficult emotional experiences of parents of children with JOHD; a review of the clinical manifestations of JOHD; behavioral issues in JOHD; CAG repeat and age of motor onset; autonomic nervous system dysfunction; and abnormality in MRI metabolic markers. Finally, a review of the therapeutic advances is included, highlighting future possibilities of clinical trials in JOHD subjects. The HD community--patients, family members at-risk for HD, caregivers, health-care professionals and scientists--is keen on expanding our understanding of JOHD. In the flurry of research on AOHD, those with JOHD were seemingly 'left behind.' The study of patients who are afflicted early in life with HD has become imperative, with this Special Issue representing just the beginning of the required effort to address this urgent need.
Juvenile Huntington Disease
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Author :
language : en
Publisher:
Release Date : 2000
Juvenile Huntington Disease written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2000 with categories.
Brave Breanna
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Author : Shelby Lentz
language : en
Publisher:
Release Date : 2021-07-17
Brave Breanna written by Shelby Lentz and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-07-17 with categories.
This is the story of Breanna. Breanna is quite an exceptional 8 year old. She loves singing, movies, and princess dresses, and everywhere she goes, she takes her million-dollar smile with her. One day, she notices her body doing things she doesn't expect or understand. After a trip to the doctors, she learns that she is living with Juvenile Huntington's Disease, a genetic condition affecting the brain. Rather than letting it get her down, Breanna shows everyone just what it means to be a positive force in the world. Join her as she teaches the people around her what it really means to be brave, and helps them to find their smile even when it seems like nothing is going their way.
Pediatric Neurology Part Iii
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Author : Derek Letort
language : en
Publisher: Elsevier Inc. Chapters
Release Date : 2013-04-24
Pediatric Neurology Part Iii written by Derek Letort and has been published by Elsevier Inc. Chapters this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-04-24 with Medical categories.
Huntington's disease (HD) is a dominantly inherited, fatal neurodegenerative disease. This incurable illness is characterized by a triad of a movement disorder, cognitive decline and psychiatric manifestations. Although most patients with HD have disease onset in the adult years, a small but significant proportion present with pediatric HD. It has been long known that patients with early-onset HD commonly exhibit prominent parkinsonism, known as the Westphal variant of HD. However, even among patients with pediatric HD there are differential clinical features depending on the age of onset, with younger patients frequently presenting diagnostic challenges. In his chapter, the characteristics of patients with childhood- and adolescence-onset HD are discussed, focusing on the differential clinical features that can aid the clinical reach a correct diagnosis, the indications and rational use of genetic testing and the currently available options for symptomatic treatment.
Huntington S Chorea
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Author : M.R. Hayden
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
Huntington S Chorea written by M.R. Hayden and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-12-06 with Medical categories.
Huntington S Disease
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Author : Oliver Quarrell
language : en
Publisher: Oxford University Press
Release Date : 2008-02-28
Huntington S Disease written by Oliver Quarrell and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-02-28 with Family & Relationships categories.
Huntington's disease affects 1 person in 10,000 but this figure is an underestimate because the immediate carer, spouse/partner and the close relatives at risk of developing this condition in the future are also affected. The new edition has been revised to include important new developments that have occurred in the field in recent years.
Juvenile Huntington S Disease Human Brain Proteomics Analyses Reveals Dysregulated Mitochondrial Systems With Alterations In Neuropeptides
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Author : William Poon
language : en
Publisher:
Release Date : 2021
Juvenile Huntington S Disease Human Brain Proteomics Analyses Reveals Dysregulated Mitochondrial Systems With Alterations In Neuropeptides written by William Poon and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021 with categories.
Huntington's disease is a heritable neurodegenerative disease caused by an autosomal dominant trinucleotide expansion of 35+ CAG repeats in the HTT gene while juvenile HD results from a trinucleotide expansion of 60+ CAG repeats. In both cases, an increased number of CAG repeats can increase the severity and onset of the disease. Additionally, there is a substantial dysregulation in protein interactions and cellular pathways in the putamen as well as global brain degeneration. Previous findings in proteomic analysis of expanded allele HTT knock-in mice have suggested mitochondrial toxicity and downregulated vesicle trafficking are some of the main causes of HD pathology, but this analysis has not been done with juvenile HD human brain tissue. To discover the dysregulated proteins in the cortex areas of Brodmann Area 4 and Brodmann Area 6 combined with the putamen, regions that regulate motor function, we performed mass spectrometry and proteomic analysis on trypsin-digested postmortem juvenile HD brain tissue and postmortem human control brain tissue to find dysregulated proteins in both conditions. Our findings showed: (1) proteins in juvenile HD only, (2) control only, (3) dysregulated proteins, (4) dysregulation of mitochondrial components in juvenile HD, (5) distinct neuropeptides in the juvenile HD and control proteome. The data suggest that mutant Htt causes gain and loss of expression of proteins in the human brain. In the cortex, the absence of mitochondrial pathway components indicates loss of function in this system. Furthermore, neuropeptides were found only in juvenile HD and control, shared, and dysregulated in juvenile HD.