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Brain tissues were available in the Manchester Brain Bank from a series of 84 patients with FTLD and 23 with MND.
Brain tissues were available in the Manchester Brain Bank from a series of 200 patients with pathologically confirmed AD (96 with early onset AD, 104 with late (ie after 65 years) onset AD.
All of the 12 positivetive cases where frozen brain tissues were available for analysis showed an expansion in C9ORF72 by Southern blotting, and are therefore consistent with the suggestion [ 17, 18] that this type of p62 pathology is pathognomic for cases of FTLD and/or MND associated with C9ORF72 mutation.
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For the remaining two cases, only formalin-fixed, paraffin-embedded blocks of brain tissue were available.
Limited amounts of brain tissue were available from the diseased piglets.
The study was restricted to cases from which large amounts of both frozen and fixed brain tissue were available.
After confirmatory Western blot, insufficient quantities of brain tissue were available for Western blot discriminatory testing in 26 samples, which are shown in the Table as samples not analyzed.
If brain tissue is available, it is sent to Dr. Gambetti, who can confirm the diagnosis.
Frozen brain tissue was available from seven of eight patients with growth hormone iCJD (cases 1 and 3 8).
No frozen brain tissue was available.
No post-mortem brain tissue was available for review from this case.
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