Spectrum of gait impairments in presymptomatic and symptomatic Huntington's disease.
Identifieur interne : 002104 ( Ncbi/Merge ); précédent : 002103; suivant : 002105Spectrum of gait impairments in presymptomatic and symptomatic Huntington's disease.
Auteurs : Ashwini K. Rao [États-Unis] ; Lisa Muratori ; Elan D. Louis ; Carol B. Moskowitz ; Karen S. MarderSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
English descriptors
- KwdEn :
- Adult, DNA Mutational Analysis, Early Diagnosis, Female, Gait Disorders, Neurologic (diagnosis), Gait Disorders, Neurologic (etiology), Gait Disorders, Neurologic (genetics), Heterozygote Detection, Humans, Huntington Disease (diagnosis), Huntington Disease (genetics), Male, Middle Aged, Nerve Tissue Proteins (genetics), Neurologic Examination, Nuclear Proteins (genetics), Postural Balance, Predictive Value of Tests, Signal Processing, Computer-Assisted, Software, Trinucleotide Repeats (genetics).
- MESH :
- chemical , genetics : Nerve Tissue Proteins, Nuclear Proteins.
- diagnosis : Gait Disorders, Neurologic, Huntington Disease.
- etiology : Gait Disorders, Neurologic.
- genetics : Gait Disorders, Neurologic, Huntington Disease, Trinucleotide Repeats.
- Adult, DNA Mutational Analysis, Early Diagnosis, Female, Heterozygote Detection, Humans, Male, Middle Aged, Neurologic Examination, Postural Balance, Predictive Value of Tests, Signal Processing, Computer-Assisted, Software.
Abstract
The purpose of this study was to quantify gait impairments in presymptomatic and symptomatic Huntington's disease (HD) subjects, and examine sensitivity of gait measures. Our sample (n = 65) included presymptomatic mutation carriers (PMC) (n = 15), symptomatic HD subjects (SHD) (n = 30) and healthy controls (n = 20). Participants were requested to walk at their preferred speed on a computerized walkway that recorded spatiotemporal variables. We administered the Unified HD Rating Scale (UHDRS) for PMC and SHD. PMC demonstrated decreased gait velocity (P < 0.01), stride length (P < 0.008), and increased time in double support (P < 0.001); and demonstrated higher variability in stride length (P < 0.01) and step time (P < 0.004) compared with controls. These impairments worsened with increasing disease severity for SHD. Gait impairments were correlated with predicted years to onset in PMC (velocity = -0.65; cadence = -0.70, step time = 0.71) and demonstrated high sensitivity and specificity in distinguishing between controls and mutation carriers. In contrast, UHDRS scores did not reveal impairments in gait and balance. Gait bradykinesia and dynamic balance impairments begin in the presymptomatic stage of HD and continue to worsen in the symptomatic stages. Gait measures are sensitive in differentiating between mutation positive and negative individuals even when impairments were not detected by clinical neurological examination. (c) 2008 Movement Disorder Society.
DOI: 10.1002/mds.21987
PubMed: 18412252
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Rao</name><affiliation wicri:level="2"><nlm:affiliation>Program in Physical Therapy, Department of Rehabilitation Medicine, Columbia University Medical Center, New York, NY 10032, USA. akr7@columbia.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Program in Physical Therapy, Department of Rehabilitation Medicine, Columbia University Medical Center, New York, NY 10032</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Muratori, Lisa" sort="Muratori, Lisa" uniqKey="Muratori L" first="Lisa" last="Muratori">Lisa Muratori</name></author><author><name sortKey="Louis, Elan D" sort="Louis, Elan D" uniqKey="Louis E" first="Elan D" last="Louis">Elan D. Louis</name></author><author><name sortKey="Moskowitz, Carol B" sort="Moskowitz, Carol B" uniqKey="Moskowitz C" first="Carol B" last="Moskowitz">Carol B. Moskowitz</name></author><author><name sortKey="Marder, Karen S" sort="Marder, Karen S" uniqKey="Marder K" first="Karen S" last="Marder">Karen S. Marder</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2008">2008</date><idno type="doi">10.1002/mds.21987</idno><idno type="RBID">pubmed:18412252</idno><idno type="pmid">18412252</idno><idno type="wicri:Area/PubMed/Corpus">002257</idno><idno type="wicri:Area/PubMed/Curation">002257</idno><idno type="wicri:Area/PubMed/Checkpoint">002082</idno><idno type="wicri:Area/Ncbi/Merge">002104</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Spectrum of gait impairments in presymptomatic and symptomatic Huntington's disease.</title><author><name sortKey="Rao, Ashwini K" sort="Rao, Ashwini K" uniqKey="Rao A" first="Ashwini K" last="Rao">Ashwini K. 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Marder</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="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>DNA Mutational Analysis</term><term>Early Diagnosis</term><term>Female</term><term>Gait Disorders, Neurologic (diagnosis)</term><term>Gait Disorders, Neurologic (etiology)</term><term>Gait Disorders, Neurologic (genetics)</term><term>Heterozygote Detection</term><term>Humans</term><term>Huntington Disease (diagnosis)</term><term>Huntington Disease (genetics)</term><term>Male</term><term>Middle Aged</term><term>Nerve Tissue Proteins (genetics)</term><term>Neurologic Examination</term><term>Nuclear Proteins (genetics)</term><term>Postural Balance</term><term>Predictive Value of Tests</term><term>Signal Processing, Computer-Assisted</term><term>Software</term><term>Trinucleotide Repeats (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term><term>Nuclear Proteins</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Gait Disorders, Neurologic</term><term>Huntington Disease</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Gait Disorders, Neurologic</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gait Disorders, Neurologic</term><term>Huntington Disease</term><term>Trinucleotide Repeats</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>DNA Mutational Analysis</term><term>Early Diagnosis</term><term>Female</term><term>Heterozygote Detection</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Postural Balance</term><term>Predictive Value of Tests</term><term>Signal Processing, Computer-Assisted</term><term>Software</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The purpose of this study was to quantify gait impairments in presymptomatic and symptomatic Huntington's disease (HD) subjects, and examine sensitivity of gait measures. Our sample (n = 65) included presymptomatic mutation carriers (PMC) (n = 15), symptomatic HD subjects (SHD) (n = 30) and healthy controls (n = 20). Participants were requested to walk at their preferred speed on a computerized walkway that recorded spatiotemporal variables. We administered the Unified HD Rating Scale (UHDRS) for PMC and SHD. PMC demonstrated decreased gait velocity (P < 0.01), stride length (P < 0.008), and increased time in double support (P < 0.001); and demonstrated higher variability in stride length (P < 0.01) and step time (P < 0.004) compared with controls. These impairments worsened with increasing disease severity for SHD. Gait impairments were correlated with predicted years to onset in PMC (velocity = -0.65; cadence = -0.70, step time = 0.71) and demonstrated high sensitivity and specificity in distinguishing between controls and mutation carriers. In contrast, UHDRS scores did not reveal impairments in gait and balance. Gait bradykinesia and dynamic balance impairments begin in the presymptomatic stage of HD and continue to worsen in the symptomatic stages. Gait measures are sensitive in differentiating between mutation positive and negative individuals even when impairments were not detected by clinical neurological examination. (c) 2008 Movement Disorder Society.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">18412252</PMID><DateCreated><Year>2008</Year><Month>07</Month><Day>10</Day></DateCreated><DateCompleted><Year>2008</Year><Month>10</Month><Day>20</Day></DateCompleted><DateRevised><Year>2012</Year><Month>07</Month><Day>11</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>23</Volume><Issue>8</Issue><PubDate><Year>2008</Year><Month>Jun</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Spectrum of gait impairments in presymptomatic and symptomatic Huntington's disease.</ArticleTitle><Pagination><MedlinePgn>1100-7</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.21987</ELocationID><Abstract><AbstractText>The purpose of this study was to quantify gait impairments in presymptomatic and symptomatic Huntington's disease (HD) subjects, and examine sensitivity of gait measures. Our sample (n = 65) included presymptomatic mutation carriers (PMC) (n = 15), symptomatic HD subjects (SHD) (n = 30) and healthy controls (n = 20). Participants were requested to walk at their preferred speed on a computerized walkway that recorded spatiotemporal variables. We administered the Unified HD Rating Scale (UHDRS) for PMC and SHD. PMC demonstrated decreased gait velocity (P < 0.01), stride length (P < 0.008), and increased time in double support (P < 0.001); and demonstrated higher variability in stride length (P < 0.01) and step time (P < 0.004) compared with controls. These impairments worsened with increasing disease severity for SHD. Gait impairments were correlated with predicted years to onset in PMC (velocity = -0.65; cadence = -0.70, step time = 0.71) and demonstrated high sensitivity and specificity in distinguishing between controls and mutation carriers. In contrast, UHDRS scores did not reveal impairments in gait and balance. Gait bradykinesia and dynamic balance impairments begin in the presymptomatic stage of HD and continue to worsen in the symptomatic stages. Gait measures are sensitive in differentiating between mutation positive and negative individuals even when impairments were not detected by clinical neurological examination. 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Louis</name><name sortKey="Marder, Karen S" sort="Marder, Karen S" uniqKey="Marder K" first="Karen S" last="Marder">Karen S. Marder</name><name sortKey="Moskowitz, Carol B" sort="Moskowitz, Carol B" uniqKey="Moskowitz C" first="Carol B" last="Moskowitz">Carol B. Moskowitz</name><name sortKey="Muratori, Lisa" sort="Muratori, Lisa" uniqKey="Muratori L" first="Lisa" last="Muratori">Lisa Muratori</name></noCountry><country name="États-Unis"><region name="État de New York"><name sortKey="Rao, Ashwini K" sort="Rao, Ashwini K" uniqKey="Rao A" first="Ashwini K" last="Rao">Ashwini K. Rao</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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