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• W1998897748 abstract "Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are part of a disease spectrum that is clinically, pathologically, and genetically heterogeneous. 1 Fecto F Siddique T Making connections: pathology and genetics link amyotrophic lateral sclerosis with frontotemporal lobe dementia. J Mol Neurosci. 2011; 45: 663-675 Crossref PubMed Scopus (64) Google Scholar Since 2006, there have been several reports of linkage of autosomal-dominant adult-onset FTLD-ALS to a locus at 9p13.2–21.3. 1 Fecto F Siddique T Making connections: pathology and genetics link amyotrophic lateral sclerosis with frontotemporal lobe dementia. J Mol Neurosci. 2011; 45: 663-675 Crossref PubMed Scopus (64) Google Scholar , 2 Morita M Al-Chalabi A Andersen PM et al. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology. 2006; 66: 839-844 Crossref PubMed Scopus (313) Google Scholar Several genome-wide association studies have reported an association of this locus with both familial ALS 3 Laaksovirta H Peuralinna T Schymick JC et al. Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol. 2010; 9: 978-985 Summary Full Text Full Text PDF PubMed Scopus (209) Google Scholar and sporadic ALS in some but not all populations. 4 van Es MA Veldink JH Saris CG et al. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet. 2009; 41: 1083-1087 Crossref PubMed Scopus (284) Google Scholar , 5 Shatunov A Mok K Newhouse S et al. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol. 2010; 9: 986-994 Summary Full Text Full Text PDF PubMed Scopus (177) Google Scholar , 6 Iida A Takahashi A Deng M et al. Replication analysis of SNPs on 9p21.2 and 19p13.3 with amyotrophic lateral sclerosis in East Asians. Neurobiol Aging. 2011; 32: e13-e14 Summary Full Text Full Text PDF PubMed Scopus (23) Google Scholar Two recent independent reports showed that an expanded GGGGCC hexanucleotide repeat in a noncoding region of C9orf72 was responsible for chromosome 9p-linked FTLD-ALS and was the most common cause of familial ALS and FTLD. 7 DeJesus-Hernandez M Mackenzie IR Boeve BF et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9orf72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011; 72: 245-256 Summary Full Text Full Text PDF PubMed Scopus (3548) Google Scholar , 8 Renton AE Majounie E Waite A et al. the The ITALSGEN consortiumA hexanucleotide repeat expansion in C9orf72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011; 72: 257-268 Summary Full Text Full Text PDF PubMed Scopus (3226) Google Scholar Identification of this genetic defect in a non-coding region is an important and exciting step. ALS now joins several other neurodegenerative diseases (including the RNA-mediated myotonic dystrophies DM1 and DM2) as repeat expansion disorders. 9 Todd PK Paulson HL RNA-mediated neurodegeneration in repeat expansion disorders. Ann Neurol. 2010; 67: 291-300 PubMed Google Scholar This finding underlies the diversity in the causes of ALS. A non-coding defect was expected because all known and predicted genes in the 9p candidate region had been sequenced by several groups (with strategies including next-generation sequencing) without the identification of mutations in coding regions. Although the C9orf72 repeat expansion accounts for a sizeable proportion of cases of ALS and FTLD, other associated genetic loci are probably still waiting to be mapped. However, if other pathogenic variants and repeats also occur in non-coding sequences, strategies such as exome sequencing might not be sufficient to detect those defects. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification studyWe identified a pathogenic GGGGCC repeat expansion in C9orf72 on chromosome 9p21, as recently also reported in two other studies. The GGGGCC repeat expansion is highly penetrant, explaining all of the contribution of chromosome 9p21 to FTLD and ALS in the Flanders-Belgian cohort. Decreased expression of C9orf72 in brain suggests haploinsufficiency as an underlying disease mechanism. Unidentified genes probably also contribute to the FTLD-ALS disease spectrum. Full-Text PDF" @default.
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• W1998897748 title "What is repeated in ALS and FTLD" @default.
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• W1998897748 doi "https://doi.org/10.1016/s1474-4422(11)70275-7" @default.
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