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. 2022 Jan 25;23(2):91–102. doi: 10.1007/s10048-021-00680-3

Table 2.

MRI characteristics associated with TITF-1, ADCY5, and PDE10A mutations.

Gene Gene product Inheritance Age of onset MRI characteristic features
TITF-1/NKX2-1 Thyroid transcription factor 1 AD/de novo Childhood/adulthood Altered sella turcica morphology
ADCY5 Adenylate cyclase 5 AD/de novo Infancy to childhood Frontoparietal cortex and thalamus atrophy
PDE10A Phosphodiesterase 10A De novo/AD/AR Infancy to childhood Bilateral striatal hyperintensities and bilateral striatal atrophy