J Clin Neurol.  2018 Oct;14(4):537-541. 10.3988/jcn.2018.14.4.537.

Characteristics of South Korean Patients with Hereditary Transthyretin Amyloidosis

Affiliations
  • 1Department of Neurology, Konkuk University Medical Center, Konkuk University School of Medicine, Seoul, Korea. serein@kuh.ac.kr
  • 2Department of Neurology, Soonchunhyang University Cheonan Hospital, Soonchunhyang University College of Medicine, Cheonan, Korea.
  • 3Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. juhongm@gmail.com
  • 4Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
  • 5Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
  • 6Sunwoo and Cho Neurology Clinic, Seoul, Korea.
  • 7Department of Neurology, Pusan National University Yangsan Hospital, Pusan National University College of Medicine, Yangsan, Korea.
  • 8Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • 9Division of Cardiology, Department of Medicine, Cardiac and Vascular Center, Samsung Medical Center, Seoul, Korea.
  • 10Department of Neurology, Dongguk University Ilsan Hospital, Goyang, Korea.

Abstract

BACKGROUND AND PURPOSE
This 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.
METHODS
The 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.
RESULTS
The 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.
CONCLUSIONS
South 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.

Keyword

transthyretin; amyloidosis; South Korea; mutation; phenotype

MeSH Terms

Amyloid Neuropathies
Amyloidosis*
Asian Continental Ancestry Group
Cardiomyopathies
Cross-Sectional Studies
Diagnosis
Far East
Genotype
Humans
Korea
Phenotype
Prealbumin*
Retrospective Studies
Valine
Prealbumin
Valine

Figure

  • Fig. 1 Distribution of transthyretin gene mutations in Korea (Total 13 families; ●: Asp38Ala in 8 families, ○: other mutations in 5 families).


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