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. 2014 May 27;137(7):2040–2051. doi: 10.1093/brain/awu120

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© The Author (2014). Published by Oxford University Press on behalf of the Guarantors of Brain.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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RNA FISH shows GGGGCC expanded RNA foci are found in peripheral cells and CNS tissue from C9orf72+ patients but not from C9orf72− ALS cases or controls. RNA foci (arrowheads) are present in fibroblasts (A), lymphoblastoid cells (B) and CNS tissue (D) from C9orf72+ patients with ALS, and in fibroblasts from a C9orf72+ asymptomatic carrier (C). RNA foci are ablated by RNase treatment (A). RNA foci are predominantly nuclear but cytoplasmic foci are observed in peripheral cells and CNS tissue (A and D, arrows). Abundance of foci in cerebellar granule cells and motor neurons has been quantified (E), in those cases where the initial clinical presentation was ALS the proportion of foci+ motor neurons is significantly higher (*P < 0.05). Scale bar = 3 µm. FTD = frontotemporal degeneration.

RNA FISH shows GGGGCC expanded RNA foci are found in peripheral cells and CNS tissue from C9orf72+ patients but not from C9orf72− ALS cases or controls. RNA foci (arrowheads) are present in fibroblasts (A), lymphoblastoid cells (B) and CNS tissue (D) from C9orf72+ patients with ALS, and in fibroblasts from a C9orf72+ asymptomatic carrier (C). RNA foci are ablated by RNase treatment (A). RNA foci are predominantly nuclear but cytoplasmic foci are observed in peripheral cells and CNS tissue (A and D, arrows). Abundance of foci in cerebellar granule cells and motor neurons has been quantified (E), in those cases where the initial clinical presentation was ALS the proportion of foci+ motor neurons is significantly higher (*P < 0.05). Scale bar = 3 µm. FTD = frontotemporal degeneration.