Volume 21, Issue 12 pp. 1783-1785

Short Report

Familial amyloid polyneuropathy related to transthyretin mutation VaL30 to Leu in a Japanese family

Kimiaki Utsugisawa MD,

Kimiaki Utsugisawa MD

Department of Neurology, Iwate Medical University, Uchimaru 19-1, Morioka 020, Japan

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Hideo Tohgi MD,

Corresponding Author

Hideo Tohgi MD

Department of Neurology, Iwate Medical University, Uchimaru 19-1, Morioka 020, Japan

Department of Neurology, Iwate Medical University, Uchimaru 19-1, Morioka 020, JapanSearch for more papers by this author

Yuriko Nagane MD,

Yuriko Nagane MD

Department of Neurology, Iwate Medical University, Uchimaru 19-1, Morioka 020, Japan

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Munehisa Yamagata MD,

Munehisa Yamagata MD

Department of Neurology, Iwate Medical University, Uchimaru 19-1, Morioka 020, Japan

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Koh Saito MD,

Koh Saito MD

Department of Neurology, Iwate Medical University, Uchimaru 19-1, Morioka 020, Japan

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Masatoshi Mihara MD,

Masatoshi Mihara MD

Department of Neurology, Iwate Medical University, Uchimaru 19-1, Morioka 020, Japan

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Kimiaki Utsugisawa MD,

Kimiaki Utsugisawa MD

Department of Neurology, Iwate Medical University, Uchimaru 19-1, Morioka 020, Japan

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Hideo Tohgi MD,

Corresponding Author

Hideo Tohgi MD

Department of Neurology, Iwate Medical University, Uchimaru 19-1, Morioka 020, Japan

Department of Neurology, Iwate Medical University, Uchimaru 19-1, Morioka 020, JapanSearch for more papers by this author

Yuriko Nagane MD,

Yuriko Nagane MD

Department of Neurology, Iwate Medical University, Uchimaru 19-1, Morioka 020, Japan

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Munehisa Yamagata MD,

Munehisa Yamagata MD

Department of Neurology, Iwate Medical University, Uchimaru 19-1, Morioka 020, Japan

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Koh Saito MD,

Koh Saito MD

Department of Neurology, Iwate Medical University, Uchimaru 19-1, Morioka 020, Japan

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Masatoshi Mihara MD,

Masatoshi Mihara MD

Department of Neurology, Iwate Medical University, Uchimaru 19-1, Morioka 020, Japan

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First published: 12 December 1998

https://doi.org/10.1002/(SICI)1097-4598(199812)21:12<1783::AID-MUS24>3.0.CO;2-O

Citations: 4

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Abstract

A rare variant transthyretin that has a leucine-for-valine substitution at position 30 was reported in a sporadic case of type 1 familial amyloid polyneuropathy (FAP). We found the same substitution in members of a Japanese family with FAP. Three individuals in this family had a guanine-to-cytosine mutation at the first base of codon 30 in exon 2. This family shows a direct link between a valine-to-leucine substitution at position 30 and type 1 FAP. © 1998 John Wiley & Sons, Inc. Muscle Nerve 21: 1783–1785, 1998

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Volume21, Issue12

December 1998

Pages 1783-1785

Familial amyloid polyneuropathy related to transthyretin mutation VaL30 to Leu in a Japanese family

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Familial amyloid polyneuropathy related to transthyretin mutation VaL30 to Leu in a Japanese family

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