Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

doi:10.1007/s00401-015-1480-6

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Article

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

Acta neuropathologica - 1 Dec 2015

van Blitterswijk Marka, Gendron Tania F, Baker Matthew C, DeJesus-Hernandez Mariely, Finch NiCole A, Brown Patricia H, Daughrity Lillian M, Murray Melissa E, Heckman Michael G, Jiang Jie, Lagier-Tourenne Clotilde, Edbauer Dieter, Cleveland Don W, Josephs Keith A, Parisi Joseph E, Knopman David S, Petersen Ronald C, Petrucelli Leonard, Boeve Bradley F, Graff-Radford Neill R, Boylan Kevin B, Dickson Dennis W, Rademakers Rosa

Abstract excerpt

The loss of chromosome 9 open reading frame 72 (C9ORF72) expression, associated with C9ORF72 repeat expansions, has not been examined systematically. Three C9ORF72 transcript variants have been described thus far; the GGGGCC repeat is located between two non-coding exons (exon 1a and exon 1b) in the promoter region of transcript variant 2 (NM_018325.4) or in the first intron of variant 1 (NM_145005.6) and variant...

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PMID: 26437865
DOI: 10.1007/s00401-015-1480-6
PMCID: PMC4655160

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