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 2 Brain magnetic resonance imaging images of the proband II-3. A: T2WI transversal cut of the middle pons showing hypointense linear striations, conforming to the tigroid pattern; B: T2WI sagittal images showing atrophy of the cerebellum, predominantly at the superior vermis and relative thinning of the posterior body of the corpus callosum, reduced diameter of the cervical spinal cord. Prominent sulci, fissures and extra-axial spaces, advanced to the age of the patient; C: T2WI coronal cut showing diffuse hyperintense signal involving the lateral pontine aspects merging to the middle cerebellar peduncles.