Ultrasound-based motion analysis demonstrates bilateral arm hypokinesia during gait in heterozygous PINK1 mutation carriers.
Identifieur interne : 000013 ( Main/Exploration ); précédent : 000012; suivant : 000014Ultrasound-based motion analysis demonstrates bilateral arm hypokinesia during gait in heterozygous PINK1 mutation carriers.
Auteurs : Lucas Nürnberger [Allemagne] ; Christine Klein ; Simon Baudrexel ; Julia Roggendorf ; Marcel Hildner ; Shu Chen ; Jun-Suk Kang ; Rüdiger Hilker ; Johann HagenahSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2015.
Abstract
Carriers of a single heterozygous PINK1 (PTEN-induced putative kinase 1) gene mutation provide an ideal opportunity to study the development of parkinsonian motor signs from the very beginning. Measuring tools that reliably represent mild motor symptoms could also facilitate the assessment of future neuroprotective therapies and early diagnosis of Parkinson's disease (PD). We investigated nine family members carrying a heterozygous PINK1 mutation in comparison with 25 age-matched healthy controls. Arm kinematics were quantified during treadmill walking at four different speeds using ultrasound-based motion analysis. Heterozygous PINK1 mutation carriers showed a bilateral reduction of arm swing amplitudes (P = 0.003) and arm anteversion (P = 0.001), which was more pronounced on the predominantly affected body side but also was present, albeit to a lesser degree, contralaterally (amplitude P = 0.01, anteversion P = 0.002, repeated measures analysis of covariance [rmANCOVA]). Single post-hoc comparisons revealed similar results for all speeds on both body sides (P < 0.05) except for 2.0 km/h on the less affected side. A single heterozygous mutation in the PINK1 gene is associated with a bilateral dopaminergic dysfunction in this family. Ultrasound-based three-dimensional motion analysis of arm swing during gait is a suitable tool to quantify even subtle hypokinesia in mildly affected PINK1 mutation carriers, which tends to be easily overlooked on the less affected body side during clinical examination. Therefore, this technique is a promising application in early stage PD and in at-risk populations for the disease.
DOI: 10.1002/mds.26127
PubMed: 25545816
Affiliations:
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sortKey="Baudrexel, Simon" sort="Baudrexel, Simon" uniqKey="Baudrexel S" first="Simon" last="Baudrexel">Simon Baudrexel</name></author><author><name sortKey="Roggendorf, Julia" sort="Roggendorf, Julia" uniqKey="Roggendorf J" first="Julia" last="Roggendorf">Julia Roggendorf</name></author><author><name sortKey="Hildner, Marcel" sort="Hildner, Marcel" uniqKey="Hildner M" first="Marcel" last="Hildner">Marcel Hildner</name></author><author><name sortKey="Chen, Shu" sort="Chen, Shu" uniqKey="Chen S" first="Shu" last="Chen">Shu Chen</name></author><author><name sortKey="Kang, Jun Suk" sort="Kang, Jun Suk" uniqKey="Kang J" first="Jun-Suk" last="Kang">Jun-Suk Kang</name></author><author><name sortKey="Hilker, Rudiger" sort="Hilker, Rudiger" uniqKey="Hilker R" first="Rüdiger" last="Hilker">Rüdiger Hilker</name></author><author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name></author></titleStmt><publicationStmt><idno 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Marcel" uniqKey="Hildner M" first="Marcel" last="Hildner">Marcel Hildner</name></author><author><name sortKey="Chen, Shu" sort="Chen, Shu" uniqKey="Chen S" first="Shu" last="Chen">Shu Chen</name></author><author><name sortKey="Kang, Jun Suk" sort="Kang, Jun Suk" uniqKey="Kang J" first="Jun-Suk" last="Kang">Jun-Suk Kang</name></author><author><name sortKey="Hilker, Rudiger" sort="Hilker, Rudiger" uniqKey="Hilker R" first="Rüdiger" last="Hilker">Rüdiger Hilker</name></author><author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</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="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Carriers of a single heterozygous PINK1 (PTEN-induced putative kinase 1) gene mutation provide an ideal opportunity to study the development of parkinsonian motor signs from the very beginning. Measuring tools that reliably represent mild motor symptoms could also facilitate the assessment of future neuroprotective therapies and early diagnosis of Parkinson's disease (PD). We investigated nine family members carrying a heterozygous PINK1 mutation in comparison with 25 age-matched healthy controls. Arm kinematics were quantified during treadmill walking at four different speeds using ultrasound-based motion analysis. Heterozygous PINK1 mutation carriers showed a bilateral reduction of arm swing amplitudes (P = 0.003) and arm anteversion (P = 0.001), which was more pronounced on the predominantly affected body side but also was present, albeit to a lesser degree, contralaterally (amplitude P = 0.01, anteversion P = 0.002, repeated measures analysis of covariance [rmANCOVA]). Single post-hoc comparisons revealed similar results for all speeds on both body sides (P < 0.05) except for 2.0 km/h on the less affected side. A single heterozygous mutation in the PINK1 gene is associated with a bilateral dopaminergic dysfunction in this family. Ultrasound-based three-dimensional motion analysis of arm swing during gait is a suitable tool to quantify even subtle hypokinesia in mildly affected PINK1 mutation carriers, which tends to be easily overlooked on the less affected body side during clinical examination. Therefore, this technique is a promising application in early stage PD and in at-risk populations for the disease.</div></front></TEI><affiliations><list><country><li>Allemagne</li></country></list><tree><noCountry><name sortKey="Baudrexel, Simon" sort="Baudrexel, Simon" uniqKey="Baudrexel S" first="Simon" last="Baudrexel">Simon Baudrexel</name><name sortKey="Chen, Shu" sort="Chen, Shu" uniqKey="Chen S" first="Shu" last="Chen">Shu Chen</name><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name><name sortKey="Hildner, Marcel" sort="Hildner, Marcel" uniqKey="Hildner M" first="Marcel" last="Hildner">Marcel Hildner</name><name sortKey="Hilker, Rudiger" sort="Hilker, Rudiger" uniqKey="Hilker R" first="Rüdiger" last="Hilker">Rüdiger Hilker</name><name sortKey="Kang, Jun Suk" sort="Kang, Jun Suk" uniqKey="Kang J" first="Jun-Suk" last="Kang">Jun-Suk Kang</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Roggendorf, Julia" sort="Roggendorf, Julia" uniqKey="Roggendorf J" first="Julia" last="Roggendorf">Julia Roggendorf</name></noCountry><country name="Allemagne"><noRegion><name sortKey="Nurnberger, Lucas" sort="Nurnberger, Lucas" uniqKey="Nurnberger L" first="Lucas" last="Nürnberger">Lucas Nürnberger</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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