Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort

Nakamura, Ryoichi; Sone, Jun; Atsuta, Naoki; Tohnai, Genki; Watanabe, H.; Yokoi, Daichi; Nakatochi, Masahiro; Watanabe, Haruo; Ito, Mizuki; Senda, Joe; Katsuno, Masahisa; Tanaka, Fumiaki; Li, Yuanzhe; Izumi, Yuishin; Morita, Mitsuya; Taniguchi, Akira; Kano, Osamu; Oda, Masaya; Kuwabara, Satoshi; Abe, Kōji; Aiba, Ikuko; Okamoto, Koichi; Mizoguchi, Kouichi; Hasegawa, Kazuko; Akiyama, Masashi; Hattori, Nobutaka; Tsuji, Shoji; Nakashima, Kenichiro; Kaji, Ryuji; Sobue, Gen

doi:10.1016/j.neurobiolaging.2015.11.030

Cited by 55 publications

(41 citation statements)

References 52 publications

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“…Subgroup analysis also showed that studies with European populations had more C9orf72 mutations in FALS and SALS, more TARDBP mutation in SALS than those with Asian populations, while studies with Asian populations had more SOD1 and FUS mutations in FALS than those with European populations (table 3). Our findings verified the distinct genetic architecture between European and Asian ALS populations 7 28…”

Section: Discussionsupporting

confidence: 85%

Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

Zou

Zhou

et al. 2017

J Neurol Neurosurg Psychiatry

410

316

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Section: Discussionsupporting

confidence: 85%

Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

Zou

Zhou

et al. 2017

J Neurol Neurosurg Psychiatry

410

316

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“…According to the ACMG guideline[23], the pathogenicity for these two variants were supported by evidence PM2 and PP3, so these two would be judged as variants of uncertain significance (VOUS). Another variants p.G1062D (c.3185G>A) discovered in our patient cohort was also reported in a Japanese ALS cohort[9]. But the variant was observed in East Asian population with a low frequency (MAF = 0.0001156) from the ExAC database.…”

Section: Discussionsupporting

confidence: 73%

“…The human dynactin subunit 1 gene ( DCTN1 ) was first identified in a family co-segregating with ALS in 2004[5]. Although DCTN1 is not a common genetic cause in familial cases, the mutation frequencies in sporadic ALS vary from 0.51% to 2.87% in different populations [6–9]…”

Section: Introductionmentioning

confidence: 99%

DCTN1 gene analysis in Chinese patients with sporadic amyotrophic lateral sclerosis

Liu

Tang

et al. 2017

PLoS ONE

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Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. Missense mutations of DCTN1 have been identified as a possible genetic risk factor for ALS. Here, we tested the DCTN1 protein-coding exons in 510 sporadic ALS patients in whom SOD1, TARDBP, FUS, and C9orf72 genes were screened before. Polymerase chain reaction and Sanger sequencing were used for mutation discovery. The results revealed two rare heterozygous missense variants, c.1867C>T (p.R623W) and c.2798C>T (p.A933V). These two patients exhibited spinal disease onset without cognitive impairment, and their onset age and diagnosis delay was within the average range of Chinese ALS patients. Our results suggested that variants in DCTN1 are not common risk factors for Chinese sporadic ALS and that the frequency of variants of unknown significance in the cohort study was 0.39%.

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“…In a recent study utilising next generation sequencing in 508 Japanese patients, mutations in SOD1 accounted for the most frequent mutations in familial (36%) and sporadic ALS (2.3%) 28. This is similarly seen in mainland China where the most frequent mutations in familial ALS are in SOD1 (27.9%), FUS (7.1%), TARDBP (3%) and C9orf72 (2.2%).…”

Section: Genetic Perspectivesmentioning

confidence: 88%

Amyotrophic lateral sclerosis and motor neuron syndromes in Asia

Shahrizaila

Sobue

Kuwabara

et al. 2016

J Neurol Neurosurg Psychiatry

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While the past 2 decades have witnessed an increasing understanding of amyotrophic lateral sclerosis (ALS) arising from East Asia, particularly Japan, South Korea, Taiwan and China, knowledge of ALS throughout the whole of Asia remains limited. Asia represents >50% of the world population, making it host to the largest patient cohort of ALS. Furthermore, Asia represents a diverse population in terms of ethnic, social and cultural backgrounds. In this review, an overview is presented that covers what is currently known of ALS in Asia from basic epidemiology and genetic influences, through to disease characteristics including atypical phenotypes which manifest a predilection for Asians. With the recent establishment of the Pan-Asian Consortium for Treatment and Research in ALS to facilitate collaborations between clinicians and researchers across the region, it is anticipated that Asia and the Pacific will contribute to unravelling the uncertainties in ALS.

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Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort

Cited by 55 publications

References 52 publications

Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

DCTN1 gene analysis in Chinese patients with sporadic amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis and motor neuron syndromes in Asia

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