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

Liu, Gong‐Lu; Wang, Ni; Wang, Hongxia; Li, Hongfu; Zhang, Yue; Wang, Ning; Wu, Zhi‐Ying

doi:10.1111/jns.12196

Cited by 17 publications

(4 citation statements)

References 35 publications

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“… 19 20 21 However, a recent study involving Chinese patients with TTR amyloidosis identified rapidly progressing cardiomyopathy as a feature of disease associated with the Ala56Pro mutation. 22 Val122Ile and Thr60Ala have been the mutation types most commonly associated with TTR cardiomyopathy, especially in African-American populations; 23 24 however, these mutations were not found in the present study.…”

Section: Discussioncontrasting

confidence: 68%

Characteristics of South Korean Patients with Hereditary Transthyretin Amyloidosis

et al. 2018

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Background and PurposeThis retrospective cross-sectional study included 18 patients from unrelated families harboring mutations of the transthyretin gene (TTR), and analyzed their characteristics and geographical distribution in South Korea.MethodsThe included patients had a diagnosis of systemic amyloidosis, clinical symptoms, such as amyloid neuropathy or cardiomyopathy, and confirmation of a TTR gene mutation using genetic analysis recorded between April 1995 and November 2014.ResultsThe mean age at disease onset was 49.6 years, and the mean disease duration from symptom onset to diagnosis was 3.67 years. Fifteen of the 18 patients were classified as mixed phenotype, 2 as the neurological phenotype, and only 1 patient as the cardiac phenotype. The most-common mutation pattern in South Korea was Asp38Ala, which was detected in eight patients. Thirteen patients reported their family hometowns, and five of the eight harboring the Asp38Ala mutation were from the Gyeongsang province in southeast Korea. The other eight patients exhibited a widespread geographical distribution. A particularly noteworthy finding was that the valine at position 30 (Val30Met) mutation, which was previously reported as the most-common TTR mutation worldwide and also the most common in the Japanese population, was not detected in the present South Korean patients.ConclusionsSouth Korean patients with hereditary TTR amyloidosis exhibited heterogeneous TTR genotypes and clinical phenotypes. The findings of this study suggest that the distribution of TTR amyloidosis in South Korea is due to de novo mutations and/or related to the other countries in East Asia.

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Section: Discussioncontrasting

confidence: 68%

Characteristics of South Korean Patients with Hereditary Transthyretin Amyloidosis

et al. 2018

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“…In Taiwan, TTR Ala97Ser is the most common mutation 9,10 . However, a limited number of cases of ATTR have been reported in the form of case reports in mainland China 11–50 . The clinical and genetic profiles of ATTR in mainland China remain elusive.…”

Section: Introductionmentioning

confidence: 99%

Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study

Wang

et al. 2021

Ann Clin Transl Neurol

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Objective This study aims to report the genotypes and phenotypes of hereditary transthyretin amyloidosis (ATTR) in a large Chinese cohort, yet the clinical and genetic profiles of ATTR remain elusive in mainland China. Methods Fifty‐four patients with molecularly confirmed ATTR from 39 unrelated families were identified by sequencing the TTR gene. Sural nerve biopsies were performed in 40 of these cases. The clinical and electrophysiological data were retrospectively collected and analyzed. Results The male/female ratio was 42:12. The average age of patients at the onset of the disease was 47.8 ± 13.0 years. The late‐onset type occurred in 29 cases (53.7%). Twenty‐two probands (56.4%) had a family history with ATTR. The initial symptoms were limb paresthesia in 33 cases (61.1%), autonomic dysfunction in 15 cases (27.8%), and blurred vision in 6 cases (11.1%). A total of 22 different TTR mutations were identified, including Val30Met (25.6%) in 10 families in North China and Ala97Ser in 4 families (10.3%) in South China. Electrophysiological studies revealed general sensorimotor axonal polyneuropathy in 33/44 cases (75.0%), mixed neuropathy with axonal and demyelinating impairment features in 9/44 cases (20.5%) and isolated carpal tunnel syndrome in two cases. Sural nerve biopsies revealed positive Congo red staining in 16/40 cases (40.0%). Conclusion Chinese patients with ATTR exhibited heterogeneous TTR genotypes and clinical phenotypes. Val30Met remains the most common mutation type in mainland China.

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“…Over 40 case reports have been published in recent years, including reports of multiple ATTR-PN families. Studies describe a mutation in the TTR gene, which is different from that observed in Europe [18][19][20][21]. Shortly before, a unicentric retrospective study reported that TTR p.Val30Met remains the most common mutation type in mainland China [22].…”

Section: Discussionmentioning

confidence: 96%

“…It was subsequently reported in Japan (1968) [3] and Sweden (1976) [4]. ATTR-PN has been reported in 29 countries, including Korea [5], the United states of America [6], China [7], and many European countries [8].…”

Section: Introductionmentioning

confidence: 99%

Clinical Features of Familial Amyloidotic Polyneuropathy With Transthyretin p.Ala117Ser Mutation in Mainland China

Zhu

et al. 2021

Preprint

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Objective: Our study aimed to report the clinical features of ATTR-PN with TTR p.Ala117Ser mutation in mainland China. Methods: Thirteen patients from 13 different families diagnosed with p.Ala117Ser ATTR-PN were identified from three centres. Clinical and laboratory data were retrospectively retrieved for analysis. Results: The male/female ratio was 11:2. All patients showed late onset, with the age of onset at 57.8 ± 5.8 years. The initial symptom was numbness of the lower or upper extremities in 9 patients (69.2%). Paraesthesia was present in all patients. Eleven patients (84.6%) had autonomic dysfunction. Cardiac, renal, hepatic, and ocular dysfunctions were noted in 8 (61.5%), 1 (7.7%), 2 (15.4%), and 3 (23.1%) patients, respectively. Nerve conduction studies have shown axonal-type sensorimotor polyneuropathy. The decline in sensory nerve action potentials was more noticeable than in compound muscle action potentials. The nerve damage present in the lower limbs was more severe than that in the upper limbs. Nerve biopsy revealed positive Congo red staining in 7/10 patients (70%). Conclusion: Our study is the largest population report on this rare p.Ala117Ser mutation in mainland China.

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

Cited by 17 publications

References 35 publications

Characteristics of South Korean Patients with Hereditary Transthyretin Amyloidosis

Characteristics of South Korean Patients with Hereditary Transthyretin Amyloidosis

Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study

Clinical Features of Familial Amyloidotic Polyneuropathy With Transthyretin p.Ala117Ser Mutation in Mainland China

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