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. Author manuscript; available in PMC: 2014 Oct 15.
Published in final edited form as: JAMA Neurol. 2014 Jun;71(6):775–781. doi: 10.1001/jamaneurol.2013.6368

Figure 2.

Figure 2

Pseudodementia patients meets diagnostic criteria for C9ORF72 hexanucleotide repeat expansion. (A) Repeat-primed PCR shows stutter amplification of the GGGGCC repeat in the pseudodementia cases (Patient 1, upper; Patient 2, middle), but not in non-carrier negative controls (lower). (B) NCI immunoreactive for C9RANT antibodies are seen in primary neurons of the hippocampus (upper panels) and granule cells of the cerebellum (lower panels) of the pseudodementia cases (Patient 1, left panels; Patient 2, middle panels) but not in other non-carrier pseudodementia controls (right panels)(10 μm bars). (C) Southern blotting of cerebellar tissue from the pseudodementia cases (in duplicate; Patient 1 in lanes 3 & 4; Patient 2 in lanes 5 & 6), two positive frontotemporal dementia controls (lanes 7 & 8), and two negative non-carrier controls (lanes 9 & 10) reveals a wild-type non-expanded allele at 2.5 kilobases (kb) for the cases and all controls as well as an expanded allele at approximately 8.5 kb (1,000–1,400 repeat units) for the cases and positive controls.