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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References
DeJesus-Hernandez, M. et al. Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72, 245–256 (2011).
Renton, A. E. et al. A nexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS–FTD. Neuron 71, 257–268 (2011).
Simon-Sanchez, J. et al. The clinical and pathological phenotype of C9orf72 hexanucleotide repeat expansions. Brain http://dx.doi.org/10.1093/brain/awr353.
Snowden, J. S. et al. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain http://dx.doi.org/10.1093/brain/awr355.
Mackenzie, I. R. et al. Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype. Acta Neuropathol. 112, 539–549 (2006).
Mackenzie, I. R. et al. A harmonized classification system for FTLD-TDP pathology. Acta Neuropathol. 122, 111–113 (2011).
Byrne, S. et al. Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study. Lancet Neurol. 11, 232–240 (2012).
Murray, M. E. et al. Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol. 122, 673–690 (2011).
Stewart, H. et al. Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene of chromosome 9p. Acta Neuropathol. 123, 409–417 (2012).
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Bigio, E. The C9orf72 hexanucleotide repeat expansion in FTD and ALS. Nat Rev Neurol 8, 249–250 (2012). https://doi.org/10.1038/nrneurol.2012.58
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DOI: https://doi.org/10.1038/nrneurol.2012.58