The cognitive burden in Huntington's disease: pathology, phenotype, and mechanisms of compensation.
Identifieur interne : 000393 ( Main/Exploration ); précédent : 000392; suivant : 000394The cognitive burden in Huntington's disease: pathology, phenotype, and mechanisms of compensation.
Auteurs : Marina Papoutsi [Royaume-Uni] ; Izelle Labuschagne ; Sarah J. Tabrizi ; Julie C. StoutSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.
English descriptors
- KwdEn :
- MESH :
- pathology : Brain, Cognition Disorders, Huntington Disease.
- physiology : Cognition.
- physiopathology : Cognition Disorders, Huntington Disease.
- Animals, Brain Mapping, Humans, Phenotype.
Abstract
Huntington's disease (HD) is an inherited autosomal dominant neurodegenerative disorder. The most prominent sign of HD is the presence of involuntary motor movements. However, HD is also characterized by marked cognitive decline, which often precedes the onset of motor symptoms and is generally considered to be more debilitating to the patients and their families, compared to motor symptoms. Cognitive decline is widespread across most faculties of cognition in later stages of the disease, but seems to be selective in preclinical and early stages of the disease, with deficits in the HD patients' ability to multitask, their speed of processing, and executive function. It is now well established that preceding clinical diagnosis there is a preclinical stage, during which HD gene mutation carriers are relatively symptom free, despite disease pathological onset and the presence of neurodegeneration. Evidence from functional brain imaging studies suggests the presence of neural compensation in preclinical stages of HD, whereby the brain undergoes functional reorganization in response to neurodegeneration to preserve motor and cognitive performance. In this review, we will describe the underlying HD pathology with a focus on how it links to the cognitive phenotype. We will also present evidence regarding the presence of neural compensation in HD and the possible mechanisms supporting it. Finally, we will discuss current research in the field of cognitive interventions that aim to support and enhance neural compensation in HD. These research efforts could, one day, prolong the preclinical stage and assist with symptom management of those affected with HD.
DOI: 10.1002/mds.25864
PubMed: 24757115
Affiliations:
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Le document en format XML
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Tabrizi</name></author><author><name sortKey="Stout, Julie C" sort="Stout, Julie C" uniqKey="Stout J" first="Julie C" last="Stout">Julie C. 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Tabrizi</name></author><author><name sortKey="Stout, Julie C" sort="Stout, Julie C" uniqKey="Stout J" first="Julie C" last="Stout">Julie C. Stout</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Animals</term><term>Brain (pathology)</term><term>Brain Mapping</term><term>Cognition (physiology)</term><term>Cognition Disorders (pathology)</term><term>Cognition Disorders (physiopathology)</term><term>Humans</term><term>Huntington Disease (pathology)</term><term>Huntington Disease (physiopathology)</term><term>Phenotype</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Cognition Disorders</term><term>Huntington Disease</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Cognition</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Cognition Disorders</term><term>Huntington Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Animals</term><term>Brain Mapping</term><term>Humans</term><term>Phenotype</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Huntington's disease (HD) is an inherited autosomal dominant neurodegenerative disorder. The most prominent sign of HD is the presence of involuntary motor movements. However, HD is also characterized by marked cognitive decline, which often precedes the onset of motor symptoms and is generally considered to be more debilitating to the patients and their families, compared to motor symptoms. Cognitive decline is widespread across most faculties of cognition in later stages of the disease, but seems to be selective in preclinical and early stages of the disease, with deficits in the HD patients' ability to multitask, their speed of processing, and executive function. It is now well established that preceding clinical diagnosis there is a preclinical stage, during which HD gene mutation carriers are relatively symptom free, despite disease pathological onset and the presence of neurodegeneration. Evidence from functional brain imaging studies suggests the presence of neural compensation in preclinical stages of HD, whereby the brain undergoes functional reorganization in response to neurodegeneration to preserve motor and cognitive performance. In this review, we will describe the underlying HD pathology with a focus on how it links to the cognitive phenotype. We will also present evidence regarding the presence of neural compensation in HD and the possible mechanisms supporting it. Finally, we will discuss current research in the field of cognitive interventions that aim to support and enhance neural compensation in HD. These research efforts could, one day, prolong the preclinical stage and assist with symptom management of those affected with HD.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><noCountry><name sortKey="Labuschagne, Izelle" sort="Labuschagne, Izelle" uniqKey="Labuschagne I" first="Izelle" last="Labuschagne">Izelle Labuschagne</name><name sortKey="Stout, Julie C" sort="Stout, Julie C" uniqKey="Stout J" first="Julie C" last="Stout">Julie C. Stout</name><name sortKey="Tabrizi, Sarah J" sort="Tabrizi, Sarah J" uniqKey="Tabrizi S" first="Sarah J" last="Tabrizi">Sarah J. Tabrizi</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Papoutsi, Marina" sort="Papoutsi, Marina" uniqKey="Papoutsi M" first="Marina" last="Papoutsi">Marina Papoutsi</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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