title: An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech.
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.
  
  
  CONCLUSIONS
  We describe an unusual movement disorder syndrome reminiscent of but distinct from Uner Tan syndrome.
authors.affiliation: School of Biological Sciences, University of the Punjab, Lahore, Pakistan.
authors.forename: Beenish
authors.initials: B
authors.lastname: Arif
authors.forename: Anne
authors.initials: A
authors.lastname: Grünewald
authors.forename: Amara
authors.initials: A
authors.lastname: Fatima
authors.forename: Alfredo
authors.initials: A
authors.lastname: Ramirez
authors.forename: Arif
authors.initials: A
authors.lastname: Ali
authors.forename: Nobert
authors.initials: N
authors.lastname: Brüggemann
authors.forename: Jens
authors.initials: J
authors.lastname: Würfel
authors.forename: Arndt
authors.initials: A
authors.lastname: Rolfs
authors.forename: Katja
authors.initials: K
authors.lastname: Lohmann
authors.forename: Akbar
authors.initials: A
authors.lastname: Malik
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
authors.forename: Sadaf
authors.initials: S
authors.lastname: Naz
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D003241:Consanguinity; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000150:complications* / Q000235:genetics; D005192:Family Health; D005260:Female; D020233:Gait Disorders, Neurologic / Q000150:complications* / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D010154:Pakistan; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D013064:Speech Disorders / Q000150:complications* / Q000235:genetics