Skip to main content
Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1

Figure 1

Familial pedigree and brain MRI of the patient. A. Familial pedigree. B. Sagittal 3DT1 gradient-echo image shows enlargement of the vermian fissures, which demonstrated cerebellar atrophy (mainly anterior). Reformatted axial 3DT1 gradient-echo image shows small lentiform nuclei compared to caudate nuclei volume. Slight enlargement of the lateral ventricles was also present. C. Sanger sequencing of TOR1AIP1 shows a homozygous A to C variant at position 179,887,067 on chromosome 1 in the patient (V1). Both parents are heterozygous carriers (IV 1 and IV2). D. The mutated glutamic acid (surrounded by blue lines) is conserved across a broad range of species.

Back to article page