Article
The neuropathology associated with repeat expansions in the C9ORF72 gene.
Acta neuropathologica - 1 Mar 2014
Mackenzie Ian R A, Frick Petra, Neumann Manuela
Abstract excerpt
An abnormal expansion of a GGGGCC hexanucleotide repeat in a non-coding region of the chromosome 9 open reading frame 72 gene (C9ORF72) is the most common genetic abnormality in familial and sporadic FTLD and ALS and the cause in most families where both, FTLD and ALS, are inherited. Pathologically, C9ORF72 expansion cases show a combination of FTLD-TDP and classical ALS with abnormal accumulation of TDP-43 into...
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