An Unusual Neurological Syndrome of Crawling Gait, Dystonia, Pyramidal Signs, and Limited Speech
Identifieur interne : 002951 ( PascalFrancis/Curation ); précédent : 002950; suivant : 002952An 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 :
- Movement disorders [ 0885-3185 ] ; 2011.
Descripteurs français
- Pascal (Inist)
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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<front><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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<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>
</record>
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