Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis

Soong, Bing Wen; Lin, Kon Ping; Guo, Yuh Cherng; Lin, Chou Ching K.; Tsai, Pei Chien; Liao, Yi‐Chu; Lu, Yi; Wang, Shuu Jiun; Tsai, Ching Piao; Lee, Yi‐Chung

doi:10.1016/j.neurobiolaging.2014.05.008

Cited by 46 publications

(24 citation statements)

References 54 publications

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“…24 Mutations in FUS also appear to occur at a higher frequency in Chinese and Korean cohorts, compared to Caucasians, with ALS 31 32. A similar pattern is also seen with OPTN mutations 33 34.…”

Section: Genetic Perspectivesmentioning

confidence: 61%

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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Section: Genetic Perspectivesmentioning

confidence: 61%

Amyotrophic lateral sclerosis and motor neuron syndromes in Asia

Shahrizaila

Sobue

Kuwabara

et al. 2016

J Neurol Neurosurg Psychiatry

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“…Our meta-analysis showed that, in mainland China, FUS is the most commonly mutated gene in SALS (1.9%) and the second most commonly mutated gene (7.1%) in FALS, with a frequency similar to that of the Taiwanese population (FALS: 6.7%, SALS: 1.5%),8 slightly lower than results from Korea (FALS: 11.1%; SALS: 1.2%),9 but much higher than those of Caucasians 2–6. Population comparisons showed that FUS mutations were significantly more common among mainland Chinese patients than those among Caucasian populations (p=6.8×10 −3 ).…”

Section: Discussionmentioning

confidence: 74%

The distinctive genetic architecture of ALS in mainland China: Table 1

Zou

Liu

2015

J Neurol Neurosurg Psychiatry

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“…The admixture with Dutch and Spanish in the 17th century in Taiwan might be a reasonable explanation (Tsai et al, 2012). Among the patients with expanded G 4 C 2 repeats, four of them were reported to have a phenotype of ALS-FTD or a family history of FTD (Jiao et al, 2014; Soong et al, 2014), another three patients exhibited cognitive impairment (Chen et al, 2016b). An intermediate length of G 4 C 2 repeats might also be pathological in Caucasian ALS patients (Byrne et al, 2014), while the phenomenon was not detected in the studies of Chinese patients (Chen et al, 2016b; Jiao et al, 2014; Liu et al, 2016a).…”

Section: Genetic Characteristics Of Chinese Als Patientsmentioning

confidence: 99%

The epidemiology and genetics of Amyotrophic lateral sclerosis in China

Liu

Gao

et al. 2018

Brain Research

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Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder associated with loss of motor neurons. Previous knowledge of the disease has been mainly based on studies from Caucasian ALS patients of European descent. Here we review the epidemiological characteristics of ALS among the Chinese population in order to compare the similarities and differences between Chinese ALS cases and those from other countries. We describe a potential lower incidence and prevalence of ALS, a younger age of onset and a lower proportion of familial ALS cases in the Chinese population. Additionally, we highlight potential genetic differences between Chinese and Caucasian ALS patients. Most notably, the frequency of GGGGCC repeat expansions in C9ORF72 in Chinese ALS is significantly lower than in Caucasians. Since some conclusions might not be consistent across all of the studies around China to date, we suggest that it is necessary to carry out a prospective population-based study and large-scale gene sequencing around to better define epidemiological and genetic features of Chinese ALS patients.

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Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis

Cited by 46 publications

References 54 publications

Amyotrophic lateral sclerosis and motor neuron syndromes in Asia

Amyotrophic lateral sclerosis and motor neuron syndromes in Asia

The distinctive genetic architecture of ALS in mainland China: Table 1

The epidemiology and genetics of Amyotrophic lateral sclerosis in China

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