Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72.
作者： T. Konno , A. Shiga , A. Tsujino , A. Sugai , T. Kato
关键词: Frontotemporal dementia 、 Trinucleotide repeat expansion 、 C9orf72 、 Amyotrophic lateral sclerosis 、 Haplotype 、 Motor neurone disease 、 Locus (genetics) 、 Neuromuscular disease 、 Medicine 、 Genetics
摘要: Background A GGGGCC hexanucleotide repeat expansion in C9ORF72 occurs on a chromosome 9p21 locus that is linked with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) white populations. The diseases resulting from this are referred to as ‘c9FTD/ALS’. It has been suggested c9FTD/ALS arose single founder. However, the existence of non-white populations not evaluated. Results We found two index familial ALS (FALS) patients Japanese population. frequency was 3.4% (2/58 cases) FALS. No sporadic (n=110) or control individuals (n=180) had expansion. Neuropathological findings an autopsy case were indistinguishable those patients. Although risk alleles identified subjects low Japanese, one patient all 20 other but one. estimated haplotype indicated these located subjects. Conclusions expansions present cohort patients, they rare. Intriguingly, appear carry same
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