1. An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech

An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech

Beenish Arif, PhD 1 Anne Grünewald, PhD 2 Amara Fatima 1 Alfredo Ramirez, MD 2 Arif Ali 3 Nobert Brüggemann, MD 2 Jens Würfel, MD 2 Prof. Arndt Rolfs, MD 4 Katja Lohmann, PhD 2 Akbar Malik 5 Prof. Christine Klein, MD 2 Sadaf Naz, PhD 1
1 University of the Punjab Lahore 2 University of Luebeck 3 Services Hospital Lahore 4 University of Rostock 5 The Children Hospital and Institute of Child Health Lahore
June 08, 2011

Mov Disord. 2011 Oct;26(12):2279-83
doi: 10.1002/mds.23860

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.