Juvenile Onset Huntington's Disease

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 Hunt...

Full description

Saved in:
Bibliographic Details
Sonstige:
Year of Publication:2021
Language:English
Physical Description:1 electronic resource (102 p.)
Tags: Add Tag
No Tags, Be the first to tag this record!
id 993545580304498
ctrlnum (CKB)5400000000040809
(oapen)https://directory.doabooks.org/handle/20.500.12854/68296
(EXLCZ)995400000000040809
collection bib_alma
record_format marc
spelling Nopoulos, Peggy C. edt
Juvenile Onset Huntington's Disease
Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute 2021
1 electronic resource (102 p.)
text txt rdacontent
computer c rdamedia
online resource cr rdacarrier
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.
English
Medicine bicssc
Huntington's disease
CAG repeat
mutant huntingtin (mHTT)
therapeutics
neurodegeneration
juvenile Huntington's disease
pediatric Huntington's disease
early-onset Huntington's disease
personal experiences
caregivers
case series
juvenile-onset Huntington's disease
T1-Rho
neuroimaging
behavioral regulation
executive function
trinucleotide repeat disorder
CAG
motor onset
juvenile-onset Huntington's Disease
autonomic
3-03943-811-5
3-03943-812-3
Nopoulos, Peggy C. oth
language English
format eBook
author2 Nopoulos, Peggy C.
author_facet Nopoulos, Peggy C.
author2_variant p c n pc pcn
author2_role Sonstige
title Juvenile Onset Huntington's Disease
spellingShingle Juvenile Onset Huntington's Disease
title_full Juvenile Onset Huntington's Disease
title_fullStr Juvenile Onset Huntington's Disease
title_full_unstemmed Juvenile Onset Huntington's Disease
title_auth Juvenile Onset Huntington's Disease
title_new Juvenile Onset Huntington's Disease
title_sort juvenile onset huntington's disease
publisher MDPI - Multidisciplinary Digital Publishing Institute
publishDate 2021
physical 1 electronic resource (102 p.)
isbn 3-03943-811-5
3-03943-812-3
illustrated Not Illustrated
work_keys_str_mv AT nopoulospeggyc juvenileonsethuntingtonsdisease
status_str n
ids_txt_mv (CKB)5400000000040809
(oapen)https://directory.doabooks.org/handle/20.500.12854/68296
(EXLCZ)995400000000040809
carrierType_str_mv cr
is_hierarchy_title Juvenile Onset Huntington's Disease
author2_original_writing_str_mv noLinkedField
_version_ 1796648759623417859
fullrecord <?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>03000nam-a2200541z--4500</leader><controlfield tag="001">993545580304498</controlfield><controlfield tag="005">20231214133241.0</controlfield><controlfield tag="006">m o d </controlfield><controlfield tag="007">cr|mn|---annan</controlfield><controlfield tag="008">202105s2021 xx |||||o ||| 0|eng d</controlfield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(CKB)5400000000040809</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(oapen)https://directory.doabooks.org/handle/20.500.12854/68296</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(EXLCZ)995400000000040809</subfield></datafield><datafield tag="041" ind1="0" ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Nopoulos, Peggy C.</subfield><subfield code="4">edt</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Juvenile Onset Huntington's Disease</subfield></datafield><datafield tag="260" ind1=" " ind2=" "><subfield code="a">Basel, Switzerland</subfield><subfield code="b">MDPI - Multidisciplinary Digital Publishing Institute</subfield><subfield code="c">2021</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">1 electronic resource (102 p.)</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">computer</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">online resource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">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.</subfield></datafield><datafield tag="546" ind1=" " ind2=" "><subfield code="a">English</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Medicine</subfield><subfield code="2">bicssc</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">Huntington's disease</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">CAG repeat</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">mutant huntingtin (mHTT)</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">therapeutics</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">neurodegeneration</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">juvenile Huntington's disease</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">pediatric Huntington's disease</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">early-onset Huntington's disease</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">personal experiences</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">caregivers</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">case series</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">juvenile-onset Huntington's disease</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">T1-Rho</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">neuroimaging</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">behavioral regulation</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">executive function</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">trinucleotide repeat disorder</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">CAG</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">motor onset</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">juvenile-onset Huntington's Disease</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">autonomic</subfield></datafield><datafield tag="776" ind1=" " ind2=" "><subfield code="z">3-03943-811-5</subfield></datafield><datafield tag="776" ind1=" " ind2=" "><subfield code="z">3-03943-812-3</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Nopoulos, Peggy C.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="906" ind1=" " ind2=" "><subfield code="a">BOOK</subfield></datafield><datafield tag="ADM" ind1=" " ind2=" "><subfield code="b">2023-12-15 05:47:54 Europe/Vienna</subfield><subfield code="f">system</subfield><subfield code="c">marc21</subfield><subfield code="a">2022-04-04 09:22:53 Europe/Vienna</subfield><subfield code="g">false</subfield></datafield><datafield tag="AVE" ind1=" " ind2=" "><subfield code="i">DOAB Directory of Open Access Books</subfield><subfield code="P">DOAB Directory of Open Access Books</subfield><subfield code="x">https://eu02.alma.exlibrisgroup.com/view/uresolver/43ACC_OEAW/openurl?u.ignore_date_coverage=true&amp;portfolio_pid=5337986610004498&amp;Force_direct=true</subfield><subfield code="Z">5337986610004498</subfield><subfield code="b">Available</subfield><subfield code="8">5337986610004498</subfield></datafield></record></collection>