AustralieFrV1, Main, Exploration, bibRecord, 007C49

Biological and clinical manifestations of Huntington’s disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data

Identifieur interne : 007C49 ( Main/Exploration ); précédent : 007C48; suivant : 007C50

Biological and clinical manifestations of Huntington’s disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data

Auteurs : Sarah J. Tabrizi ; Douglas R. Langbehn ; Blair R. Leavitt ; Raymund A C. Roos ; Alexandra Durr ; David Craufurd ; Christopher Kennard ; Stephen L. Hicks ; Nick C. Fox ; Rachael I. Scahill ; Beth Borowsky ; Allan J. Tobin ; H Diana Rosas ; Hans Johnson ; Ralf Reilmann ; Bernhard Landwehrmeyer ; Julie C. Stout

Source :

Lancet neurology [ 1474-4422 ] ; 2009.

RBID : PMC:3725974

Abstract

SummaryBackground

Huntington’s disease (HD) is an autosomal dominant, fully penetrant, neurodegenerative disease that most commonly affects adults in mid-life. Our aim was to identify sensitive and reliable biomarkers in premanifest carriers of mutated HTT and in individuals with early HD that could provide essential methodology for the assessment of therapeutic interventions.

Methods

This multicentre study uses an extensive battery of novel assessments, including multi-site 3T MRI, clinical, cognitive, quantitative motor, oculomotor, and neuropsychiatric measures. Blinded analyses were done on the baseline cross-sectional data from 366 individuals: 123 controls, 120 premanifest (pre-HD) individuals, and 123 patients with early HD.

Findings

The first participant was enrolled in January, 2008, and all assessments were completed by August, 2008. Cross-sectional analyses identified significant changes in whole-brain volume, regional grey and white matter differences, impairment in a range of voluntary neurophysiological motor, and oculomotor tasks, and cognitive and neuropsychiatric dysfunction in premanifest HD gene carriers with normal motor scores through to early clinical stage 2 disease.

Interpretation

We show the feasibility of rapid data acquisition and the use of multi-site 3T MRI and neurophysiological motor measures in a large multicentre study. Our results provide evidence for quantifiable biological and clinical alterations in HTT expansion carriers compared with age-matched controls. Many parameters differ from age-matched controls in a graded fashion and show changes of increasing magnitude across our cohort, who range from about 16 years from predicted disease diagnosis to early HD. These findings might help to define novel quantifiable endpoints and methods for rapid and reliable data acquisition, which could aid the design of therapeutic trials.

Funding

CHDI/High Q Foundation.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3725974

DOI: 10.1016/S1474-4422(09)70170-X
PubMed: 19646924
PubMed Central: 3725974

Affiliations:

Le document en format XML

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<front><div type="abstract" xml:lang="en"><title>Summary</title>
<sec id="S1"><title>Background</title>
<p id="P1">Huntington’s disease (HD) is an autosomal dominant, fully penetrant, neurodegenerative disease that most commonly affects adults in mid-life. Our aim was to identify sensitive and reliable biomarkers in premanifest carriers of mutated <italic>HTT</italic>
 and in individuals with early HD that could provide essential methodology for the assessment of therapeutic interventions.</p>
</sec>
<sec id="S2"><title>Methods</title>
<p id="P2">This multicentre study uses an extensive battery of novel assessments, including multi-site 3T MRI, clinical, cognitive, quantitative motor, oculomotor, and neuropsychiatric measures. Blinded analyses were done on the baseline cross-sectional data from 366 individuals: 123 controls, 120 premanifest (pre-HD) individuals, and 123 patients with early HD.</p>
</sec>
<sec id="S3"><title>Findings</title>
<p id="P3">The first participant was enrolled in January, 2008, and all assessments were completed by August, 2008. Cross-sectional analyses identified significant changes in whole-brain volume, regional grey and white matter differences, impairment in a range of voluntary neurophysiological motor, and oculomotor tasks, and cognitive and neuropsychiatric dysfunction in premanifest HD gene carriers with normal motor scores through to early clinical stage 2 disease.</p>
</sec>
<sec id="S4"><title>Interpretation</title>
<p id="P4">We show the feasibility of rapid data acquisition and the use of multi-site 3T MRI and neurophysiological motor measures in a large multicentre study. Our results provide evidence for quantifiable biological and clinical alterations in <italic>HTT</italic>
 expansion carriers compared with age-matched controls. Many parameters differ from age-matched controls in a graded fashion and show changes of increasing magnitude across our cohort, who range from about 16 years from predicted disease diagnosis to early HD. These findings might help to define novel quantifiable endpoints and methods for rapid and reliable data acquisition, which could aid the design of therapeutic trials.</p>
</sec>
<sec id="S5"><title>Funding</title>
<p id="P5">CHDI/High Q Foundation.</p>
</sec>
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Biological and clinical manifestations of Huntington’s disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data

Biological and clinical manifestations of Huntington’s disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data

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Abstract

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