Movement Disorders (revue)

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An Unusual Neurological Syndrome of Crawling Gait, Dystonia, Pyramidal Signs, and Limited Speech

Identifieur interne : 000715 ( PascalFrancis/Checkpoint ); précédent : 000714; suivant : 000716

An Unusual Neurological Syndrome of Crawling Gait, Dystonia, Pyramidal Signs, and Limited Speech

Auteurs : Beenish Arif [Pakistan] ; Anne Grünewald [Allemagne] ; Amara Fatima [Pakistan] ; Alfredo Ramirez [Allemagne] ; Arif Ali [Pakistan] ; Nobert Bruggemann [Allemagne] ; Jens Würfel [Allemagne] ; Arndt Rolfs [Allemagne] ; Katja Lohmann [Allemagne] ; Akbar Malik [Pakistan] ; Christine Klein [Allemagne] ; Sadaf Naz [Pakistan]

Source :

RBID : Pascal:11-0481769

Descripteurs français

English descriptors

Abstract

Background: The purpose of the study was to identify and molecularly characterize a neurological syndrome in a consanguineous Pakistani family. Methods: Five patients, their 2 siblings, and their parents were clinically examined. DNA from all 7 siblings was genotyped with Affymetrix SNP arrays and sequencing of selected candidate genes. Results: An unusual neurological syndrome of crawling gait, predominant leg dystonia, pyramidal signs, microcephaly, and suspected deafness segregated in the family. Three patients ambulated on hands and knees, either by hopping and crossing their legs, or by dragging the legs behind them. Two patients have acquired the ability to walk bipedally with a dystonic gait. Unexpectedly, no chromosomal region was homozygous in patients only. Under different disease models, we localized 7 chromosomal regions in the genome common to all patients. No pathogenic mutations were identified in selected candidate genes or the mitochondrial genome. Conclusion: We describe an unusual movement disorder syndrome reminiscent of but distinct from Uner Tan syndrome.


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Pascal:11-0481769

Le document en format XML

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<term>Nervous system diseases</term>
<term>Neurological disorder</term>
<term>Sign</term>
<term>Speech</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr">
<term>Trouble neurologique</term>
<term>Dystonie</term>
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<div type="abstract" xml:lang="en">Background: The purpose of the study was to identify and molecularly characterize a neurological syndrome in a consanguineous Pakistani family. Methods: Five patients, their 2 siblings, and their parents were clinically examined. DNA from all 7 siblings was genotyped with Affymetrix SNP arrays and sequencing of selected candidate genes. Results: An unusual neurological syndrome of crawling gait, predominant leg dystonia, pyramidal signs, microcephaly, and suspected deafness segregated in the family. Three patients ambulated on hands and knees, either by hopping and crossing their legs, or by dragging the legs behind them. Two patients have acquired the ability to walk bipedally with a dystonic gait. Unexpectedly, no chromosomal region was homozygous in patients only. Under different disease models, we localized 7 chromosomal regions in the genome common to all patients. No pathogenic mutations were identified in selected candidate genes or the mitochondrial genome. Conclusion: We describe an unusual movement disorder syndrome reminiscent of but distinct from Uner Tan syndrome.</div>
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<sZ>6 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="03">
<s1>Services Hospital</s1>
<s2>Lahore</s2>
<s3>PAK</s3>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="04">
<s1>Institute of Neuroradiology, University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="05">
<s1>Albrecht-Kossel-Institute for Neuroregeneration, University of Rostock</s1>
<s2>Rostock</s2>
<s3>DEU</s3>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="06">
<s1>The Children Hospital and Institute of Child Health</s1>
<s2>Lahore</s2>
<s3>PAK</s3>
<sZ>10 aut.</sZ>
</fA14>
<fA20>
<s1>2279-2283</s1>
</fA20>
<fA21>
<s1>2011</s1>
</fA21>
<fA23 i1="01">
<s0>ENG</s0>
</fA23>
<fA43 i1="01">
<s1>INIST</s1>
<s2>20953</s2>
<s5>354000505557630220</s5>
</fA43>
<fA44>
<s0>0000</s0>
<s1>© 2011 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45>
<s0>12 ref.</s0>
</fA45>
<fA47 i1="01" i2="1">
<s0>11-0481769</s0>
</fA47>
<fA60>
<s1>P</s1>
<s3>CC</s3>
</fA60>
<fA61>
<s0>A</s0>
</fA61>
<fA64 i1="01" i2="1">
<s0>Movement disorders</s0>
</fA64>
<fA66 i1="01">
<s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG">
<s0>Background: The purpose of the study was to identify and molecularly characterize a neurological syndrome in a consanguineous Pakistani family. Methods: Five patients, their 2 siblings, and their parents were clinically examined. DNA from all 7 siblings was genotyped with Affymetrix SNP arrays and sequencing of selected candidate genes. Results: An unusual neurological syndrome of crawling gait, predominant leg dystonia, pyramidal signs, microcephaly, and suspected deafness segregated in the family. Three patients ambulated on hands and knees, either by hopping and crossing their legs, or by dragging the legs behind them. Two patients have acquired the ability to walk bipedally with a dystonic gait. Unexpectedly, no chromosomal region was homozygous in patients only. Under different disease models, we localized 7 chromosomal regions in the genome common to all patients. No pathogenic mutations were identified in selected candidate genes or the mitochondrial genome. Conclusion: We describe an unusual movement disorder syndrome reminiscent of but distinct from Uner Tan syndrome.</s0>
</fC01>
<fC02 i1="01" i2="X">
<s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X">
<s0>002B17H</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE">
<s0>Trouble neurologique</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG">
<s0>Neurological disorder</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA">
<s0>Trastorno neurológico</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE">
<s0>Dystonie</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG">
<s0>Dystonia</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA">
<s0>Distonía</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE">
<s0>Microcéphalie</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG">
<s0>Microcephaly</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA">
<s0>Microcefalia</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE">
<s0>Pathologie du système nerveux</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG">
<s0>Nervous system diseases</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA">
<s0>Sistema nervioso patología</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE">
<s0>Signe</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG">
<s0>Sign</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA">
<s0>Signo</s0>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE">
<s0>Parole</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG">
<s0>Speech</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA">
<s0>Habla</s0>
<s5>10</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE">
<s0>Syndrome extrapyramidal</s0>
<s5>38</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG">
<s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA">
<s0>Extrapiramidal síndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE">
<s0>Mouvement involontaire</s0>
<s5>39</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG">
<s0>Involuntary movement</s0>
<s5>39</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA">
<s0>Movimiento involuntario</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE">
<s0>Pathologie du muscle strié</s0>
<s5>40</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG">
<s0>Striated muscle disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA">
<s0>Músculo estriado patología</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE">
<s0>Pathologie de l'encéphale</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG">
<s0>Cerebral disorder</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA">
<s0>Encéfalo patología</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE">
<s0>Maladie congénitale</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG">
<s0>Congenital disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA">
<s0>Enfermedad congénita</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE">
<s0>Malformation</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG">
<s0>Malformation</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA">
<s0>Malformación</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE">
<s0>Pathologie du système nerveux central</s0>
<s5>44</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG">
<s0>Central nervous system disease</s0>
<s5>44</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA">
<s0>Sistema nervosio central patología</s0>
<s5>44</s5>
</fC07>
<fN21>
<s1>332</s1>
</fN21>
<fN44 i1="01">
<s1>OTO</s1>
</fN44>
<fN82>
<s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
<affiliations>
<list>
<country>
<li>Allemagne</li>
<li>Pakistan</li>
</country>
</list>
<tree>
<country name="Pakistan">
<noRegion>
<name sortKey="Arif, Beenish" sort="Arif, Beenish" uniqKey="Arif B" first="Beenish" last="Arif">Beenish Arif</name>
</noRegion>
<name sortKey="Ali, Arif" sort="Ali, Arif" uniqKey="Ali A" first="Arif" last="Ali">Arif Ali</name>
<name sortKey="Fatima, Amara" sort="Fatima, Amara" uniqKey="Fatima A" first="Amara" last="Fatima">Amara Fatima</name>
<name sortKey="Malik, Akbar" sort="Malik, Akbar" uniqKey="Malik A" first="Akbar" last="Malik">Akbar Malik</name>
<name sortKey="Naz, Sadaf" sort="Naz, Sadaf" uniqKey="Naz S" first="Sadaf" last="Naz">Sadaf Naz</name>
</country>
<country name="Allemagne">
<noRegion>
<name sortKey="Grunewald, Anne" sort="Grunewald, Anne" uniqKey="Grunewald A" first="Anne" last="Grünewald">Anne Grünewald</name>
</noRegion>
<name sortKey="Bruggemann, Nobert" sort="Bruggemann, Nobert" uniqKey="Bruggemann N" first="Nobert" last="Bruggemann">Nobert Bruggemann</name>
<name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name>
<name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name>
<name sortKey="Rolfs, Arndt" sort="Rolfs, Arndt" uniqKey="Rolfs A" first="Arndt" last="Rolfs">Arndt Rolfs</name>
<name sortKey="Wurfel, Jens" sort="Wurfel, Jens" uniqKey="Wurfel J" first="Jens" last="Würfel">Jens Würfel</name>
</country>
</tree>
</affiliations>
</record>

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