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An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech.
Arif, Beenish; Grünewald, Anne; Fatima, Amara et al.
2011In Movement Disorders, 26 (12), p. 2279-83
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Keywords :
Adolescent; Child; Child, Preschool; Chromosomes, Human, Pair 7/genetics; Consanguinity; DNA Mutational Analysis; Dystonic Disorders/complications/genetics; Family Health; Female; Gait Disorders, Neurologic/complications/genetics; Genotype; Humans; Male; Pakistan; Polymorphism, Single Nucleotide/genetics; Speech Disorders/complications/genetics
Abstract :
[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.
Disciplines :
Genetics & genetic processes
Author, co-author :
Arif, Beenish
Grünewald, Anne  
Fatima, Amara
Ramirez, Alfredo
Ali, Arif
Bruggemann, Nobert
Wurfel, Jens
Rolfs, Arndt
Lohmann, Katja
Malik, Akbar
Klein, Christine 
Naz, Sadaf
External co-authors :
yes
Language :
English
Title :
An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech.
Publication date :
2011
Journal title :
Movement Disorders
ISSN :
1531-8257
Publisher :
John Wiley & Sons, Hoboken, United States - New York
Volume :
26
Issue :
12
Pages :
2279-83
Peer reviewed :
Peer Reviewed verified by ORBi
Commentary :
Copyright (c) 2011 Movement Disorder Society.
Available on ORBilu :
since 09 February 2016

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