PMC4733403_01
Structural MRI. 3T structural brain MRI. A: Axial T1 showing bilateral frontal and parietal atrophy (left); Coronal T1 showing bilateral hippocampal atrophy (right). B: Axial FLAIR displaying encephalomalacia in the left frontal and right temporal pole. The left side of the axial image corresponds to the left side of the brain.
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F1
Left frontal pole and bilateral anterior temporal encephalomalacia was seen on FLAIR (Figure 1).
VBM analysis of patient compared to 30 healthy controls. Group difference maps comparing the patient with 30 healthy controls (HC) showed atrophy in bilateral orbitofrontal cortex, pregenual anterior cingulate, bilateral posterior insula, bilateral lateral temporal cortex, caudate, medial thalamus, hippocampi, and cerebellum. Significant clusters were defined at a t-threshold of pFWE <=0.05 with a minimum cluster size of 50 voxels. The color bar represents the t-score and statistical maps are superimposed on the Montreal Neurological Institute template. The left side of the axial and coronal images corresponds to the left side of the brain.
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F2
Also, bilateral lateral temporal cortex, precuneus, caudate, medial pulvinar nucleus of the thalamus, hippocampi, and cerebellum were atrophied (Figure 2).
Fluorodeoxyglucose (FDG) and Pittsburgh compound B (PIB) PET. Top panel: FDG-PET demonstrated hypometabolism in the frontal and temporoparietal lobes. Bottom panel: PIB-PET showed diffuse cortical and striatal binding. The left side of the axial images corresponds to the left side of the brain with the NIH color scale.
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F3
FDG-PET showed hypometabolism in bilateral frontal and temporoparietal cortices and PIB-PET was diffusely positive for presence of amyloid (Figure 3) (See supplementary materials for methods).
Electropherogram revealing the patient's hexanucleotide expansion in C9ORF72. Electropherograms of the repeat-primed PCR assay show the arbitrary relative fluorescence units versus the product size (base pairs). The patient (top panel) exhibits the "saw-tooth" stutter pattern, characteristic among C9ORF72 repeat expansion carriers and absent in non-carriers (bottom panel).
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F4
C9ORF72 testing performed with repeat-primed PCR revealed that he carried a pathologic hexanucleotide repeat expansion (Figure 4).