case_images: PMC10250589_01
case_images: Images of the present patient and the nucleotide variant. (A), The course of T2-weighted brain magnetic resonance imaging (MRI). Longitudinal brain MRI showed progressive brain atrophy with left temporal dominance and non-progressive cerebellar atrophy. (B), Brain N-isopropyl-p-[123I] iodoamphetamine single photon emission computed tomography (123I-IMP SPECT). The patient's123I-IMP SPECT image acquired at the age of 50 years showed hypoperfusion in the bilateral temporal lobes with left dominance and the bilateral cerebellar hemispheres. (C) Electropherogram of the region of the variant of the valosin-containing protein gene (NM_007126.5: exon 9: c.265C>T [Arg89Trp]) in our patient and an unaffected control. The location of the variant is indicated by a red arrow.
case_images: fgene-14-1155998-g001.jpg
case_images: PMC10250589_01_fgene-14-1155998-g001.jpg
case_images: F1
case_images: Longitudinal brain MRI revealed progressive brain atrophy with temporal dominance (Figure 1A), non-progressive cerebellar atrophy (Figure 1A), and some non-specific white matter intensities (data not shown). N-isopropyl-p-[123I] iodoamphetamine single photon emission computed tomography (SPECT) at the age of 50 years showed hypoperfusion in the bilateral temporal lobe with left dominance and the cerebellar hemispheres (Figure 1B). Neither the cervical MRI acquired at the age of 41 years nor the whole spinal MRI acquired at the age of 46 years showed abnormalities.