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O1‐05‐02: FTLD repeat expansions in C9orf72: Evidence for variability in the repeat sequence
Author(s) -
PickeringBrown Stuart,
Rollinson Sara,
Snowden Julie,
Gerhard Alex,
Neary David,
Mann David
Publication year - 2012
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2012.05.227
Subject(s) - c9orf72 , trinucleotide repeat expansion , southern blot , blot , primer (cosmetics) , biology , amyotrophic lateral sclerosis , genetics , microbiology and biotechnology , sequence analysis , direct repeat , pathology , gene , medicine , allele , genome , chemistry , disease , organic chemistry
tent feature of these cases, in contrast to the similar frequency of p62 and TDP-43 deposition in 53 control cases with FTLD-TDP. Conclusions: These findings corroborate the clinical importance of the C9ORF72 mutation in FTLD, delineate phenotypic and neuropathological features that could help to guide genetic testing, and suggest hypotheses for elucidating the neurobiology of a culprit subcortical network.