Age, CAG repeat length, and clinical progression in Huntington's disease.
Identifieur interne : 000F44 ( Main/Merge ); précédent : 000F43; suivant : 000F45Age, CAG repeat length, and clinical progression in Huntington's disease.
Auteurs : Adam Rosenblatt [États-Unis] ; Brahma V. Kumar ; Alisa Mo ; Claire S. Welsh ; Russell L. Margolis ; Christopher A. RossSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- Activities of Daily Living, Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Aging, Baltimore, Child, Disability Evaluation, Disease Progression, Female, Humans, Huntington Disease (genetics), Huntington Disease (physiopathology), Huntington Disease (psychology), Longitudinal Studies, Male, Mental Status Schedule, Middle Aged, Trinucleotide Repeats (genetics), Young Adult.
- MESH :
- geographic : Baltimore.
- genetics : Huntington Disease, Trinucleotide Repeats.
- physiopathology : Huntington Disease.
- psychology : Huntington Disease.
- Activities of Daily Living, Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Aging, Child, Disability Evaluation, Disease Progression, Female, Humans, Longitudinal Studies, Male, Mental Status Schedule, Middle Aged, Young Adult.
Abstract
The objective of this study was to further explore the effect of CAG repeat length on the rate of clinical progression in patients with Huntington's disease. The dataset included records for 569 subjects followed prospectively at the Baltimore Huntington's Disease Center. Participants were seen for a mean of 7.1 visits, with a mean follow-up of 8.2 years. Subjects were evaluated using the Quantified Neurologic Examination and its Motor Impairment subscale, the Mini-Mental State Examination, and the Huntington's disease Activities of Daily Living Scale. By itself, CAG repeat length showed a statistically significant but small effect on the progression of all clinical measures. Contrary to our previous expectations, controlling for age of onset increased the correlation between CAG repeat length and progression of all variables by 69% to 159%. Graphical models further supported the idea that individuals with smaller triplet expansions experience a more gradual decline. CAG repeat length becomes an important determinant of clinical prognosis when accounting for age of onset. This suggests that the aging process itself influences clinical outcomes in Huntington's disease. Inconsistent results in prior studies examining CAG repeat length and progression may indeed reflect a lack of age adjustment.
DOI: 10.1002/mds.24024
PubMed: 22173986
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pubmed:22173986Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Age, CAG repeat length, and clinical progression in Huntington's disease.</title><author><name sortKey="Rosenblatt, Adam" sort="Rosenblatt, Adam" uniqKey="Rosenblatt A" first="Adam" last="Rosenblatt">Adam Rosenblatt</name><affiliation wicri:level="2"><nlm:affiliation>Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. arosenba@jhmi.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Kumar, Brahma V" sort="Kumar, Brahma V" uniqKey="Kumar B" first="Brahma V" last="Kumar">Brahma V. Kumar</name></author><author><name sortKey="Mo, Alisa" sort="Mo, Alisa" uniqKey="Mo A" first="Alisa" last="Mo">Alisa Mo</name></author><author><name sortKey="Welsh, Claire S" sort="Welsh, Claire S" uniqKey="Welsh C" first="Claire S" last="Welsh">Claire S. Welsh</name></author><author><name sortKey="Margolis, Russell L" sort="Margolis, Russell L" uniqKey="Margolis R" first="Russell L" last="Margolis">Russell L. Margolis</name></author><author><name sortKey="Ross, Christopher A" sort="Ross, Christopher A" uniqKey="Ross C" first="Christopher A" last="Ross">Christopher A. Ross</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2012">2012</date><idno type="doi">10.1002/mds.24024</idno><idno type="RBID">pubmed:22173986</idno><idno type="pmid">22173986</idno><idno type="wicri:Area/PubMed/Corpus">000F13</idno><idno type="wicri:Area/PubMed/Curation">000F13</idno><idno type="wicri:Area/PubMed/Checkpoint">000F53</idno><idno type="wicri:Area/Ncbi/Merge">003517</idno><idno type="wicri:Area/Ncbi/Curation">003517</idno><idno type="wicri:Area/Ncbi/Checkpoint">003517</idno><idno type="wicri:Area/Main/Merge">000F44</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Age, CAG repeat length, and clinical progression in Huntington's disease.</title><author><name sortKey="Rosenblatt, Adam" sort="Rosenblatt, Adam" uniqKey="Rosenblatt A" first="Adam" last="Rosenblatt">Adam Rosenblatt</name><affiliation wicri:level="2"><nlm:affiliation>Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. arosenba@jhmi.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Kumar, Brahma V" sort="Kumar, Brahma V" uniqKey="Kumar B" first="Brahma V" last="Kumar">Brahma V. Kumar</name></author><author><name sortKey="Mo, Alisa" sort="Mo, Alisa" uniqKey="Mo A" first="Alisa" last="Mo">Alisa Mo</name></author><author><name sortKey="Welsh, Claire S" sort="Welsh, Claire S" uniqKey="Welsh C" first="Claire S" last="Welsh">Claire S. Welsh</name></author><author><name sortKey="Margolis, Russell L" sort="Margolis, Russell L" uniqKey="Margolis R" first="Russell L" last="Margolis">Russell L. Margolis</name></author><author><name sortKey="Ross, Christopher A" sort="Ross, Christopher A" uniqKey="Ross C" first="Christopher A" last="Ross">Christopher A. Ross</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="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Activities of Daily Living</term><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Aging</term><term>Baltimore</term><term>Child</term><term>Disability Evaluation</term><term>Disease Progression</term><term>Female</term><term>Humans</term><term>Huntington Disease (genetics)</term><term>Huntington Disease (physiopathology)</term><term>Huntington Disease (psychology)</term><term>Longitudinal Studies</term><term>Male</term><term>Mental Status Schedule</term><term>Middle Aged</term><term>Trinucleotide Repeats (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Baltimore</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Huntington Disease</term><term>Trinucleotide Repeats</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Huntington Disease</term></keywords><keywords scheme="MESH" qualifier="psychology" xml:lang="en"><term>Huntington Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Activities of Daily Living</term><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Aging</term><term>Child</term><term>Disability Evaluation</term><term>Disease Progression</term><term>Female</term><term>Humans</term><term>Longitudinal Studies</term><term>Male</term><term>Mental Status Schedule</term><term>Middle Aged</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The objective of this study was to further explore the effect of CAG repeat length on the rate of clinical progression in patients with Huntington's disease. The dataset included records for 569 subjects followed prospectively at the Baltimore Huntington's Disease Center. Participants were seen for a mean of 7.1 visits, with a mean follow-up of 8.2 years. Subjects were evaluated using the Quantified Neurologic Examination and its Motor Impairment subscale, the Mini-Mental State Examination, and the Huntington's disease Activities of Daily Living Scale. By itself, CAG repeat length showed a statistically significant but small effect on the progression of all clinical measures. Contrary to our previous expectations, controlling for age of onset increased the correlation between CAG repeat length and progression of all variables by 69% to 159%. Graphical models further supported the idea that individuals with smaller triplet expansions experience a more gradual decline. CAG repeat length becomes an important determinant of clinical prognosis when accounting for age of onset. This suggests that the aging process itself influences clinical outcomes in Huntington's disease. Inconsistent results in prior studies examining CAG repeat length and progression may indeed reflect a lack of age adjustment.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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