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Additional Supporting Information may be found in the online version of this article.

FilenameFormatSizeDescription
MDS_23860_sm_SuppInfo.doc49KSupporting Information
MDS_23860_sm_SuppTab1.doc30KTable e-1: Linkage Intervals for family DYAF07.
MDS_23860_sm_SuppTab2.doc28KTable e-2 Exclusion mapping of CA8 in family DYAF07.
MDS_23860_sm_SuppFig1.tif6757KFigure e-1. Haplotypes of family DYAF07 as generated by Haplopainter after analysis of SNP data with markers at the CA8 chromosomal interval. The five affected individuals have different haplotypes and the same haplotype combinations are present in unaffected siblings VI:4 and VI:5 also. For clarity, haplotypes of all affected individuals are shown next to one another, regardless of their position in the pedigree. The location of SNP markers are shown according to the deCODE genetic map.
MDS_23860_sm_SuppMov1.mpg2358KSupporting Video 1 (VI:7). The patient ambulates on hands and knees by hopping and crossing his legs at the back. He propels his trunk with a hop while his legs are held in a dystonic posture.
MDS_23860_sm_SuppMov2.mpg4977KSupporting Video 2 (VI:6). The first segment shows a “spontaneous” Babinski sign more pronounced on the left. Ambulation is similar to that of her brother (VI:7). With assistance, the patient displays a severely dystonic-spastic gait.
MDS_23860_sm_SuppMov3.mpg4258KSupporting Video 3 (VI:3). The first segment shows leg spasticity and Oppenheim's reflex of the left leg. The patient and her brother (VI:2) are able to walk without assistance, but present with a dystonic-spastic, hyperlordotic gait.
MDS_23860_sm_SuppMov4.mpg4521KSupporting Video 4 (VI:1). The patient has a severely dystonic gait; walking is only possible with assistance. He shows a dystonic smile when sitting.

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