Figure 1

Pedigrees and partial electropherograms. (A) Pedigree of family RDHR07. Patients were from multiple generations of the family. Filled black symbols denote those individuals with spastic paraplegia while the half filled symbols indicate those with a spastic /ataxic/dystonic disorder which is different from that of the other patients. The SPG11 allele genotypes of the participants are indicated under their symbols (+ = wild-type allele, − = deletion allele). (B) Pedigree of family ANMD03. Individuals who participated in the study are indicated. The DDHD2 genotypes are shown below the symbols for individual participants. (C) Pedigree of family RDFA06, with individuals affected in two branches. The AP4B1 genotypes of all the participating individuals are mentioned. (D) Partial electropherogram from BTSeq sequencing results of the SPG11 deletion allele NC000015.9:g.44894055_44902826del. The reverse complement sequence shows intron 20 (at left and base pairs written in bold) continuous with the sequence within intron 18 (at right and base pairs are not written in bold). The arrow indicates the start of intron 20, reading from right to left. Sequence is reverse complement with respect to the cDNA. (E) Partial electropherograms of DDHD2. Traces from healthy individuals with a wild-type sequence and patients with the variant c.985C > T are shown. The arrow indicates the changed nucleotide. (F) Electropherogram of AP4B1 showing the sequences of the carrier and the affected individuals. The start of the variant c.965-967delACTinsC is indicated by an arrow above the first of the changed nucleotides. The wild-type genomic sequence is shown under the trace of the affected individual, and the deleted/inserted nucleotides are written in lowercase letters and boxed. Sequence is reverse complement with respect to the cDNA.