An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech
Identifieur interne : 001810 ( Main/Exploration ); précédent : 001809; suivant : 001811An 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 Brüggemann [Allemagne] ; Jens Würfel [Allemagne] ; Arndt Rolfs [Allemagne] ; Katja Lohmann [Allemagne] ; Akbar Malik [Pakistan] ; Christine Klein [Allemagne] ; Sadaf Naz [Pakistan]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-10.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : Pakistan.
English descriptors
- KwdEn :
- Adolescent, Child, Child, Preschool, Chromosomes, Human, Pair 7 (genetics), Consanguinity, DNA Mutational Analysis, Dystonia, Dystonic Disorders (complications), Dystonic Disorders (genetics), Family Health, Female, Gait Disorders, Neurologic (complications), Gait Disorders, Neurologic (genetics), Genotype, Humans, Male, Microcephaly, Nervous system diseases, Neurological disorder, Pakistan, Polymorphism, Single Nucleotide (genetics), Sign, Speech, Speech Disorders (complications), Speech Disorders (genetics), crawling gait, dystonia, genetics, microcephaly, movement disorders, quadrupedal gait.
- MESH :
- geographic : Pakistan.
- complications : Dystonic Disorders, Gait Disorders, Neurologic, Speech Disorders.
- genetics : Chromosomes, Human, Pair 7, Dystonic Disorders, Gait Disorders, Neurologic, Polymorphism, Single Nucleotide, Speech Disorders.
- Adolescent, Child, Child, Preschool, Consanguinity, DNA Mutational Analysis, Family Health, Female, Genotype, Humans, Male.
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. © 2011 Movement Disorder Society
Url:
DOI: 10.1002/mds.23860
Affiliations:
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first="Anne" last="Grünewald">Anne Grünewald</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Fatima, Amara" sort="Fatima, Amara" uniqKey="Fatima A" first="Amara" last="Fatima">Amara Fatima</name><affiliation wicri:level="1"><country xml:lang="fr">Pakistan</country><wicri:regionArea>School of Biological Sciences, University of the Punjab, Lahore</wicri:regionArea><wicri:noRegion>Lahore</wicri:noRegion></affiliation></author><author><name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Ali, Arif" sort="Ali, Arif" uniqKey="Ali A" first="Arif" last="Ali">Arif Ali</name><affiliation wicri:level="1"><country xml:lang="fr">Pakistan</country><wicri:regionArea>Services Hospital, Lahore</wicri:regionArea><wicri:noRegion>Lahore</wicri:noRegion></affiliation></author><author><name sortKey="Bruggemann, Nobert" sort="Bruggemann, Nobert" uniqKey="Bruggemann N" first="Nobert" last="Brüggemann">Nobert Brüggemann</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Wurfel, Jens" sort="Wurfel, Jens" 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sortKey="Naz, Sadaf" sort="Naz, Sadaf" uniqKey="Naz S" first="Sadaf" last="Naz">Sadaf Naz</name><affiliation wicri:level="1"><country xml:lang="fr">Pakistan</country><wicri:regionArea>School of Biological Sciences, University of the Punjab, Lahore</wicri:regionArea><wicri:noRegion>Lahore</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-10">2011-10</date><biblScope unit="vol">26</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="2279">2279</biblScope><biblScope unit="page" to="2283">2283</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">A1D56B18CDB22E45C11C70670F93085A9A4B0A39</idno><idno type="DOI">10.1002/mds.23860</idno><idno type="ArticleID">MDS23860</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Child</term><term>Child, Preschool</term><term>Chromosomes, Human, Pair 7 (genetics)</term><term>Consanguinity</term><term>DNA Mutational Analysis</term><term>Dystonia</term><term>Dystonic Disorders (complications)</term><term>Dystonic Disorders (genetics)</term><term>Family Health</term><term>Female</term><term>Gait Disorders, Neurologic (complications)</term><term>Gait Disorders, Neurologic (genetics)</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Microcephaly</term><term>Nervous system diseases</term><term>Neurological disorder</term><term>Pakistan</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Sign</term><term>Speech</term><term>Speech Disorders (complications)</term><term>Speech Disorders (genetics)</term><term>crawling gait</term><term>dystonia</term><term>genetics</term><term>microcephaly</term><term>movement disorders</term><term>quadrupedal gait</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Pakistan</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Dystonic Disorders</term><term>Gait Disorders, Neurologic</term><term>Speech Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 7</term><term>Dystonic Disorders</term><term>Gait Disorders, Neurologic</term><term>Polymorphism, Single Nucleotide</term><term>Speech Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Child</term><term>Child, Preschool</term><term>Consanguinity</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Male</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Microcéphalie</term><term>Parole</term><term>Pathologie du système nerveux</term><term>Signe</term><term>Trouble neurologique</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Pakistan</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><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. © 2011 Movement Disorder Society</div></front></TEI><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="Brüggemann">Nobert Brüggemann</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>Pour manipuler ce document sous Unix (Dilib)
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