TARDBP gene mutations among Chinese patients with sporadic amyotrophic lateral sclerosis

Huang, Rui; Fang, Deng-Fu; Ma, Mengyuan; Guo, Xiaoyan; Zhao, Bi; Zeng, Yan; Zhou, Dong; Yang, Yuan; Shang, Huifang

doi:10.1016/j.neurobiolaging.2010.07.007

Cited by 16 publications

(16 citation statements)

References 28 publications

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“…The demographics and clinical characteristics of the ALS patients in the present study agreed with previous reports [8]. The average age of symptom onset was 51 years (SD 51.35±11.28).…”

Section: Resultssupporting

confidence: 91%

“…In different Chinese populations,four substitution variants, p.S292N [6], p.G298S [10], p.M337V and p.N378D [8] were previously found in FALS subjects and four variants, S292N, G348V, A366A [3] and p.N378S [11] were detected in SALS cases. Those TARDBP variants are located in exon 6, but their pathological role has not yet been established because of small sample size of these studies.…”

Section: Discussionmentioning

confidence: 93%

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Absence of Mutations in Exon 6 of the TARDBP Gene in 207 Chinese Patients with Sporadic Amyotrohic Lateral Sclerosis

Zheng

et al. 2013

PLoS ONE

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Mutations in the TARDBP gene, which encodes the Tar DNA binding protein, have been shown to causes of both familial amyotrophic lateral sclerosis (FALS) and sporadic ALS (SALS). Recently, several novel TARDBP exon 6 mutants have been reported in patients with ALS in Europe and America but not in Asia. To further examine the spectrum and frequency of TARDBP exon 6 mutations, we investigated their frequency in ethnic Chinese patients with sporadic ALS. TARDBP exon 6 was screened by direct sequencing in 207 non-SOD1 SALS patients and 230 unrelated healthy controls but no mutations were identified. Our data indicate that exon 6 mutations in TARDBP are not a common cause of SALS in Han Chinese population from Southern Mainland China.

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“…The demographics and clinical characteristics of the ALS patients in the present study agreed with previous reports [8]. The average age of symptom onset was 51 years (SD 51.35±11.28).…”

Section: Resultssupporting

confidence: 91%

Section: Discussionmentioning

confidence: 93%

Absence of Mutations in Exon 6 of the TARDBP Gene in 207 Chinese Patients with Sporadic Amyotrohic Lateral Sclerosis

Zheng

et al. 2013

PLoS ONE

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“…The entire coding region of TARDBP and an average of 100 nucleotides of flanking intronic regions of each exon were fully sequenced in both the directions in 97 ALS patients. The primer sequences were as previously described (20). Six pairs of primers were used to amplify all six exons of the TARDBP gene, including exon/intron boundaries.…”

Section: Mutation Screening Of the Tardbp Genementioning

confidence: 99%

“…The TARDBP gene on chromosome 1p36.22 consists of five coding and one non-coding exon (13). Recently, several TARDBP mutations have been identified among FALS and sporadic ALS (SALS) patients from different populations (13)(14)(15)(16)(17)(18)(19)(20)(21). Mutations in the FUS/TLS gene have been reported in FALS patients with a pathology similar to that of the TARDBP gene characterized by neuronal cytoplasmic protein aggregation and defective RNA metabolism (22,23).…”

mentioning

confidence: 99%

High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis

et al. 2011

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Recently, rare mutations in the TARDBP gene have been identified in familial and sporadic amyotrophic lateral sclerosis (ALS) patients. The purpose of this study was to characterize the genetic variability of the TARDBP gene in a cohort of Sardinian ALS patients. The coding region of the gene was analyzed in 97 unrelated patients previously tested negative for superoxide dismutase (SOD1) mutations. The p.Ala382Thr (c.1144G>A) mutation was found in 30 patients (30.9%). The mutation was predominant in familial ALS patients (FALS) as it was represented in 24 of 30 FALS cases (80%) (p < 0.0003). Six cases were apparently sporadic (9% of sporadic ALS patients). No further mutation of TARDBP was found in our cohort of ALS patients. Patients carrying the mutation showed spinal site of onset in 24 cases (80%), an average age at onset of 54.7 ± 11.1 years, not significantly different from patients not harboring TARDBP mutations (56.7 ± 9.6) and a female:male gender ratio of 1:1.1. The haplotype analysis carried out using eight microsatellite markers flanking the gene showed a founder effect for this mutation. Finally, we estimated the age-specific penetrance of the TARDBP p.Ala382Thr mutation in an additional sample of 47 carriers (20 affected and 27 unaffected). The average penetrance to 70 years was 60% (95% confidence interval 41-79%). A trend toward a higher penetrance in males was observed. Even in the presence of a causal mutation, most of the ALS clinical heterogeneity, however, draws upon from a multifactorial context.

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“…8 Protein Misfolding and Toxicity 25th International Symposium on ALS/MND in the same host, one strain inhibits the ability of the other to cause disease. This spread can be arrested through incubation of the conditioned media with SOD1 misfolding-specifi c antibodies, demonstrating the therapeutic potential of these antibodies.…”

Section: Discussionmentioning

confidence: 99%

Session 1 Joint Opening Session

2014

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

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TARDBP gene mutations among Chinese patients with sporadic amyotrophic lateral sclerosis

Cited by 16 publications

References 28 publications

Absence of Mutations in Exon 6 of the TARDBP Gene in 207 Chinese Patients with Sporadic Amyotrohic Lateral Sclerosis

Absence of Mutations in Exon 6 of the TARDBP Gene in 207 Chinese Patients with Sporadic Amyotrohic Lateral Sclerosis

High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis

Session 1 Joint Opening Session

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