Transthyretin Ala97Ser is associated with familial amyloidotic polyneuropathy in a Chinese-Taiwanese family

Ala97Ser transthyretin amyloidosis-associated polyneuropathy, clinical and neurophysiological profiles in a Thai cohort

“…Additionally, symptomatic patients were not restricted to late adulthood and elderly individuals. Patients' symptoms may start in their early 30 s. A review of the English literature in the PubMed search engine revealed 12 clinical studies with clinical data (including case reports) of ATTRA97S-PN [6][7][8][9][10][17][18][19][20][21][22][23]. The first case was reported in 1999 [23].…”

“…The first case was reported in 1999 [23]. Additional file 2 shows the epidemiologic data and clinical features of Thai patients in comparison to those in 12 previous reports [6][7][8][9][10][17][18][19][20][21][22][23].…”

Ala97Ser transthyretin amyloidosis-associated polyneuropathy, clinical and neurophysiological profiles in a Thai cohort

“…Additionally, symptomatic patients were not restricted to late adulthood and elderly individuals. Patients' symptoms may start in their early 30 s. A review of the English literature in the PubMed search engine revealed 12 clinical studies with clinical data (including case reports) of ATTRA97S-PN [6][7][8][9][10][17][18][19][20][21][22][23]. The first case was reported in 1999 [23].…”

“…The first case was reported in 1999 [23]. Additional file 2 shows the epidemiologic data and clinical features of Thai patients in comparison to those in 12 previous reports [6][7][8][9][10][17][18][19][20][21][22][23].…”

Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds

“…However, TTR‐FAP is now believed to have worldwide distribution (Benson and Kincaid, ) . More and more TTR‐FAP patients in Han Chinese people have been reported (Table ) (Yamamoto et al , ; Chou et al , ; Lachmann et al , ; Li et al , , ; Lim et al , ; Mak et al , , ; Liu et al , , , ; Yang et al , ; Chen et al , ; Zhang et al , , ; Long et al , ; Zou et al , ; Lv et al , ; Meng et al , ) . Here, we identified four different TTR heterozygous mutations already known to be associated with FAP in four unrelated families and among them, mutations Thr49Ala(p.Thr69Ala) and Tyr116Ser(p.Tyr136Ser) were detected for the first time in the Chinese population.…”

Transthyretin Ala97Ser in Chinese–Taiwanese patients with familial amyloid polyneuropathy: Genetic studies and phenotype expression

“…This mutation was first reported in one Taiwanese patient in 1999 without mention of the detail of its characters [15]. Previous literature of the TTR mutations in Chinese was restricted in the analysis in a single family [10][11][12][13][14]. Our study is the first case series of TTR-FAP in Taiwanese-Chinese ethnics.…”

Ala97Ser transthyretin amyloidosis-associated polyneuropathy, clinical and neurophysiological profiles in a Thai cohort

“…Additionally, symptomatic patients were not restricted to late adulthood and elderly individuals. Patients' symptoms may start in their early 30 s. A review of the English literature in the PubMed search engine revealed 12 clinical studies with clinical data (including case reports) of ATTRA97S-PN [6][7][8][9][10][17][18][19][20][21][22][23]. The first case was reported in 1999 [23].…”

“…The first case was reported in 1999 [23]. Additional file 2 shows the epidemiologic data and clinical features of Thai patients in comparison to those in 12 previous reports [6][7][8][9][10][17][18][19][20][21][22][23].…”

Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds

“…However, TTR‐FAP is now believed to have worldwide distribution (Benson and Kincaid, ) . More and more TTR‐FAP patients in Han Chinese people have been reported (Table ) (Yamamoto et al , ; Chou et al , ; Lachmann et al , ; Li et al , , ; Lim et al , ; Mak et al , , ; Liu et al , , , ; Yang et al , ; Chen et al , ; Zhang et al , , ; Long et al , ; Zou et al , ; Lv et al , ; Meng et al , ) . Here, we identified four different TTR heterozygous mutations already known to be associated with FAP in four unrelated families and among them, mutations Thr49Ala(p.Thr69Ala) and Tyr116Ser(p.Tyr136Ser) were detected for the first time in the Chinese population.…”

Transthyretin Ala97Ser in Chinese–Taiwanese patients with familial amyloid polyneuropathy: Genetic studies and phenotype expression

“…This mutation was first reported in one Taiwanese patient in 1999 without mention of the detail of its characters [15]. Previous literature of the TTR mutations in Chinese was restricted in the analysis in a single family [10][11][12][13][14]. Our study is the first case series of TTR-FAP in Taiwanese-Chinese ethnics.…”

Ala97Ser transthyretin amyloidosis-associated polyneuropathy, clinical and neurophysiological profiles in a Thai cohort

“…Additionally, symptomatic patients were not restricted to late adulthood and elderly individuals. Patients' symptoms may start in their early 30 s. A review of the English literature in the PubMed search engine revealed 12 clinical studies with clinical data (including case reports) of ATTRA97S-PN [6][7][8][9][10][17][18][19][20][21][22][23]. The first case was reported in 1999 [23].…”

“…The first case was reported in 1999 [23]. Additional file 2 shows the epidemiologic data and clinical features of Thai patients in comparison to those in 12 previous reports [6][7][8][9][10][17][18][19][20][21][22][23].…”

Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds

“…However, TTR‐FAP is now believed to have worldwide distribution (Benson and Kincaid, ) . More and more TTR‐FAP patients in Han Chinese people have been reported (Table ) (Yamamoto et al , ; Chou et al , ; Lachmann et al , ; Li et al , , ; Lim et al , ; Mak et al , , ; Liu et al , , , ; Yang et al , ; Chen et al , ; Zhang et al , , ; Long et al , ; Zou et al , ; Lv et al , ; Meng et al , ) . Here, we identified four different TTR heterozygous mutations already known to be associated with FAP in four unrelated families and among them, mutations Thr49Ala(p.Thr69Ala) and Tyr116Ser(p.Tyr136Ser) were detected for the first time in the Chinese population.…”

Transthyretin Ala97Ser in Chinese–Taiwanese patients with familial amyloid polyneuropathy: Genetic studies and phenotype expression

“…This mutation was first reported in one Taiwanese patient in 1999 without mention of the detail of its characters [15]. Previous literature of the TTR mutations in Chinese was restricted in the analysis in a single family [10][11][12][13][14]. Our study is the first case series of TTR-FAP in Taiwanese-Chinese ethnics.…”