2022
DOI: 10.1186/s12920-022-01327-4
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Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China

Abstract: Background Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by predominant impairment of upper and lower motor neurons. Over 50 TARDBP mutations have been reported in both familial (FALS) and sporadic ALS (SALS). Some mutations in TARDBP, e.g. A382T and G294V, have genetic founder effects in certain geographic regions. However, such prevalence and founder effect have not been reported in Chinese. Methods … Show more

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Cited by 5 publications
(2 citation statements)
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“…In our patients this variant was associated with later onset, shorter disease duration (Figure 1b) and more frequent bulbar onset with respect to other mutations, confirming previously reported findings in Chinese patients in which the p.G294V variant was the most frequent TARDBP mutation [28]. In particular, the high prevalence of bulbar onset appears to be a peculiar feature, being observed in 71% of our series and in 66% of those described in the literature [18,27,29].…”
Section: Discussionsupporting
confidence: 91%
“…In our patients this variant was associated with later onset, shorter disease duration (Figure 1b) and more frequent bulbar onset with respect to other mutations, confirming previously reported findings in Chinese patients in which the p.G294V variant was the most frequent TARDBP mutation [28]. In particular, the high prevalence of bulbar onset appears to be a peculiar feature, being observed in 71% of our series and in 66% of those described in the literature [18,27,29].…”
Section: Discussionsupporting
confidence: 91%
“…TDP-43, encoded by the TARDBP gene, is the major aggregated protein involved in the formation of the characteristic inclusions, especially in its hyperphosphorylated and ubiquitin-bound form, in the brains of patients with ubiquitin-positive frontotemporal lobar degeneration (FTLD-U) and or ALS [141]. More than 50 mutations in the TARDBP gene have been identified across the FTD/ALS spectrum [143,144].…”
Section: Tar Dna-binding Protein Of 43kda (Tdp-43)mentioning
confidence: 99%