Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

doi:10.1016/j.neuron.2011.09.011

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Article

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

Neuron - 20 Oct 2011

DeJesus-Hernandez Mariely, Mackenzie Ian R, Boeve Bradley F, Boxer Adam L, Baker Matt, Rutherford Nicola J, Nicholson Alexandra M, Finch NiCole A, Flynn Heather, Adamson Jennifer, Kouri Naomi, Wojtas Aleksandra, Sengdy Pheth, Hsiung Ging-Yuek R, Karydas Anna, Seeley William W, Josephs Keith A, Coppola Giovanni, Geschwind Daniel H, Wszolek Zbigniew K, Feldman Howard, Knopman David S, Petersen Ronald C, Miller Bruce L, Dickson Dennis W, Boylan Kevin B, Graff-Radford Neill R, Rademakers Rosa

Abstract excerpt

Several families have been reported with autosomal-dominant frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), genetically linked to chromosome 9p21. Here, we report an expansion of a noncoding GGGGCC hexanucleotide repeat in the gene C9ORF72 that is strongly associated with disease in a large FTD/ALS kindred, previously reported to be conclusively linked to chromosome 9p. This same repeat...

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Identifiers

PMID: 21944778
DOI: 10.1016/j.neuron.2011.09.011
PMCID: PMC3202986

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