( Top ) Family pedigree. The arrow indicates the index case. Squares, men; Circles, women. Black symbols indicate clinically affected individuals; empty symbols show clinically healthy relatives. Carriers of the novel mutation in SPG4/SPAST are indicated with a dotted frame. Star symbols indicate individuals who underwent DNA studies but then tested normal. (Bottom) Electropherogram flanking the novel mutation c.1-763_c.683-650del affecting the 5′UTR and exons 1–4 of SPAST, and the position of spastin neighboring genes.