PMC5149415_01
Pedigree of family affected with PRNP Q160X. An autosomal dominant inheritance pattern was noted. The proband's asymptomatic father was a confirmed heterozygous Q160X carrier. The proband's paternal grandfather had severe dysautonomia, peripheral neuropathy, and cognitive decline. The arrow denotes the proband. The asterisks correspond to genetically confirmed PRNP Q160X cases. MM, codon 129 methionine homozygosity; MV, codon 129 heterozygosity; d., death age.
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F1
His paternal family history, however, was significant for an autonomic and cognitive disorder with neuropathy and gastric upset (Fig. 1).
Brain magnetic resonance imaging of the proband at age 31. Axial (a), coronal (b), and sagittal (c) T1-weighted images show severe symmetric temporal, perisylvian, parietal, and thalamic atrophy with associated ex-vacuo hydrocephalus.
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F2
This figure appeared 2-3 times over 9 years. Brain MRI at the first visit revealed severe white matter atrophy (likely contributing to) enlarged ventricles in the bilateral temporal horns (Fig. 2), widened Sylvian fissures, and severe atrophy of orbitofrontal cortex, left greater than right parietal lobes, bilateral angular gyri, and bilateral anterior cingulate.