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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Figure 1

Neuroimaging features of Family C. A. T1 weighted sagittal MRI of the brain of the proband from Family C demonstrating mild cerebellar hypoplasia at 1 year of age. B. Demonstration of cerebellar atrophy in the proband at 5 years of age. C. and D. T1 weighted sagittal and axial MRI of the brain of the proband’s father at 45 years of age demonstrating diffuse cerebellar atrophy.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172