Familial amyloid polyneuropathy involving a homozygous Val30Met mutation in the amyloidogenic transthyretin gene presenting with superficial siderosis: a case report-Reference-Cited by-同舟云学术

Familial amyloid polyneuropathy involving a homozygous Val30Met mutation in the amyloidogenic transthyretin gene presenting with superficial siderosis: a case report

Published:2016 Issue:6 Volume:56 Page:430-434
ISSN:0009-918X
Container-title:Rinsho Shinkeigaku
language:en
Short-container-title:Rinsho Shinkeigaku

Author:

Maetani Yuta¹,Agari Dai¹,Nomura Eiichi¹,Ueda Mitsuharu²,Ando Yukio²,Yamawaki Takemori¹

Affiliation:

1. Department of Neurology, Hiroshima City Hospital

2. Department of Neurology, Graduate School of Medical Sciences Kumamoto University

Publisher

Societas Neurologica Japonica

Subject

Neurology (clinical)

Link

https://www.jstage.jst.go.jp/article/clinicalneurol/56/6/56_cn-000869/_pdf

Reference18 articles.

1. 1) Hamill R. Report of a case of melanosis of the brain, cord and meninges. J Nerv Ment Dis 1908;35:594.

2. 3) Charidimou A, Gang Q, Werring DJ. Sporadic cerebral amyloid angiopathy revisited: recent insights into pathophysiology and clinical spectrum. J Neurol Neurosurg Psychiatry 2012;83:124-137.

3. 4) Linn J, Halpin A, Demaerel P, et al. Prevalence of superficial siderosis in patients with cerebral amyloid angiopathy. Neurology 2010;74:1346-1350.

4. 5) Kumabe Y, Miura A, Yamashita T, et al. A homozygote case of familial amyloid polyneuropathy amyloidgenic transthyretin Val30Met in a non-endemic area. Amyloid 2011;18(Suppl 1): 169-170.

5. 7) Levy M, Turtzo C, Llinas RH. Superficial siderosis: a case report and review of the literature. Nat Clin Pract Neurol 2007;3:54-58.

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