Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72

被引：68

作者：

Konno, Takuya ^{[1
]}

Shiga, Atsushi ^{[2
]}

Tsujino, Akira ^{[3
]}

Sugai, Akihiro ^{[1
]}

Kato, Taisuke ^{[1
]}

Kanai, Kazuaki ^{[4
]}

Yokoseki, Akio ^{[1
]}

Eguchi, Hiroto ^{[3
]}

Kuwabara, Satoshi ^{[4
]}

Nishizawa, Masatoyo ^{[1
]}

Takahashi, Hitoshi ^{[2
]}

Onodera, Osamu ^{[5
]}

机构：

[1] Niigata Univ, Brain Res Inst, Dept Neurol, Niigata 9518585, Japan

[2] Niigata Univ, Brain Res Inst, Dept Pathol, Niigata 9518585, Japan

[3] Nagasaki Univ, Grad Sch Biomed Sci, Dept Internal Med 1, Nagasaki 852, Japan

[4] Chiba Univ, Sch Med, Dept Neurol, Chiba 280, Japan

[5] Niigata Univ, Brain Res Inst, Dept Mol Neurosci, Niigata 9518585, Japan

来源：

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2013年 / 84卷 / 04期

基金：

日本学术振兴会;

关键词：

FRONTOTEMPORAL LOBAR DEGENERATION;

D O I：

10.1136/jnnp-2012-302272

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

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) in white populations. The diseases resulting from this expansion are referred to as 'c9FTD/ALS'. It has been suggested that c9FTD/ALS arose from a single founder. However, the existence of c9FTD/ALS in non-white populations has not been evaluated. Results We found two index familial ALS (FALS) patients with c9FTD/ALS in the Japanese population. The frequency of c9FTD/ALS was 3.4% (2/58 cases) in FALS. No patients with sporadic ALS (n=110) or control individuals (n=180) had the expansion. Neuropathological findings of an autopsy case were indistinguishable from those of white patients. Although the frequency of risk alleles identified in white subjects is low in Japanese, one patient had all 20 risk alleles and the other had all but one. The estimated haplotype indicated that the repeat expansion in these patients was located on the chromosome with the risk haplotype identified in white subjects. Conclusions C9ORF72 repeat expansions were present in a Japanese cohort of ALS patients, but they were rare. Intriguingly, Japanese patients appear to carry the same risk haplotype identified in white populations.

引用

页码：398 / 401

页数：4

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