Motor neuron disease: the C9orf72 hexanucleotide repeat expansion in FTD and ALS

doi:10.1038/nrneurol.2012.58

. 2012 Apr 10;8(5):249-50.

doi: 10.1038/nrneurol.2012.58.

Motor neuron disease: the C9orf72 hexanucleotide repeat expansion in FTD and ALS

Eileen H Bigio

PMID: 22487746
PMCID: PMC4450645
DOI: 10.1038/nrneurol.2012.58

Motor neuron disease: the C9orf72 hexanucleotide repeat expansion in FTD and ALS

Eileen H Bigio. Nat Rev Neurol. 2012.

. 2012 Apr 10;8(5):249-50.

doi: 10.1038/nrneurol.2012.58.

Author

Eileen H Bigio

PMID: 22487746
PMCID: PMC4450645
DOI: 10.1038/nrneurol.2012.58

Abstract

Two new studies provide strong evidence for the link between mutations in the C9orf72 gene and familial frontotemporal dementia or amyotrophic lateral sclerosis. One of the papers presents some unique associations between clinical features and C9orf72 mutation, and raises questions regarding the specificity of some previously reported pathological findings.

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A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.
van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Engelborghs S, Philtjens S, Vandenbulcke M, Sleegers K, Sieben A, Bäumer V, Maes G, Corsmit E, Borroni B, Padovani A, Archetti S, Perneczky R, Diehl-Schmid J, de Mendonça A, Miltenberger-Miltenyi G, Pereira S, Pimentel J, Nacmias B, Bagnoli S, Sorbi S, Graff C, Chiang HH, Westerlund M, Sanchez-Valle R, Llado A, Gelpi E, Santana I, Almeida MR, Santiago B, Frisoni G, Zanetti O, Bonvicini C, Synofzik M, Maetzler W, Vom Hagen JM, Schöls L, Heneka MT, Jessen F, Matej R, Parobkova E, Kovacs GG, Ströbel T, Sarafov S, Tournev I, Jordanova A, Danek A, Arzberger T, Fabrizi GM, Testi S, Salmon E, Santens P, Martin JJ, Cras P, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Philtjens S, Sleegers K, Bäumer V, Maes G, Corsmit E, Cruts M, Van Broeckhoven C, van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Philtjens S, Theuns J, Sleegers K, Bäumer V, Maes G, Cruts M, Van Broeckhoven C, Engelborghs S, De Deyn PP, Cras P, Engelborghs S, De Deyn PP, Vandenbulcke M, Vandenbulcke M, Borroni B, Padovani A, Archetti S, Perneczky R, Diehl-Schmid J, Synofzik… See abstract for full author list ➔ van der Zee J, et al. Hum Mutat. 2013 Feb;34(2):363-73. doi: 10.1002/humu.22244. Epub 2013 Jan 4. Hum Mutat. 2013. PMID: 23111906 Free PMC article.

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References

1. DeJesus-Hernandez M, et al. Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72:245–256. - PMC - PubMed
1. Renton AE, et al. A nexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS–FTD. Neuron. 2011;71:257–268. - PMC - PubMed
1. Simon-Sanchez J, et al. The clinical and pathological phenotype of C9orf72 hexanucleotide repeat expansions. Brain. http://dx.doi.org/10.1093/brain/awr353. - DOI - PubMed
1. Snowden JS, et al. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain. http://dx.doi.org/10.1093/brain/awr355. - DOI - PMC - PubMed
1. Mackenzie IR, et al. Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype. Acta Neuropathol. 2006;112:539–549. - PMC - PubMed

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[1] DeJesus-Hernandez M, et al. Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72:245–256. - PMC - PubMed

[2] DeJesus-Hernandez M, et al. Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72:245–256. - PMC - PubMed

[3] Renton AE, et al. A nexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS–FTD. Neuron. 2011;71:257–268. - PMC - PubMed

[4] Renton AE, et al. A nexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS–FTD. Neuron. 2011;71:257–268. - PMC - PubMed

[5] Simon-Sanchez J, et al. The clinical and pathological phenotype of C9orf72 hexanucleotide repeat expansions. Brain. http://dx.doi.org/10.1093/brain/awr353. - DOI - PubMed

[6] Simon-Sanchez J, et al. The clinical and pathological phenotype of C9orf72 hexanucleotide repeat expansions. Brain. http://dx.doi.org/10.1093/brain/awr353. - DOI - PubMed

[7] Snowden JS, et al. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain. http://dx.doi.org/10.1093/brain/awr355. - DOI - PMC - PubMed

[8] Snowden JS, et al. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain. http://dx.doi.org/10.1093/brain/awr355. - DOI - PMC - PubMed

[9] Mackenzie IR, et al. Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype. Acta Neuropathol. 2006;112:539–549. - PMC - PubMed

[10] Mackenzie IR, et al. Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype. Acta Neuropathol. 2006;112:539–549. - PMC - PubMed

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Motor neuron disease: the C9orf72 hexanucleotide repeat expansion in FTD and ALS

Motor neuron disease: the C9orf72 hexanucleotide repeat expansion in FTD and ALS

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