Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula: A case report and review of literature

Figure 1 Family pedigree. Autosomal recessive spastic ataxia of charlevoix-saguenay affected members of the family are depicted with black target circle. Squares represent males and circles females. The proband is marked with an arrowhead. Notice the extensive consanguinity. Wt: Wild type; Mut: Mutant.