A case of familial amyloid polyneuropathy (FAP ATTR Ile107Val) with proximal muscle weakness in the lower extremities
Author:
Affiliation:
1. Department of Neurology, Chikamori Hospital
2. Department of Pathlogy, Chikamori Hospital
Publisher
Societas Neurologica Japonica
Subject
Neurology (clinical)
Link
https://www.jstage.jst.go.jp/article/clinicalneurol/56/4/56_cn-000852/_pdf
Reference8 articles.
1. 1) Uemichi T, Gertz MA, Benson MD, et al. Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107). J Med Genet 1994;31:416-417.
2. 2) Nanri K, Utsumi H, Yamada M, et al. Transthyretin Val 107 in a Japanese patient with familial amyloid polyneuropathy. J Neurol Sci 2002;198:93-96.
3. 3) Uotani K, Kawata A, Nagao M, et al. Trigger finger as an initial manifestation of familial amyloid polyneuropathy in a patient with Ile107Val TTR. Intern Med 2007;46:501-504.
4. 4) Asahina M, Akaoogi Y, Misawa S, et al. Sensorimotor manifestations with autonomic symptoms in two siblings with TTR Val107 familial amyloid polyneuropathy. Clin Neurol Neurosurg 2001;113:139-141.
5. 5) Kincaid JC, Wallace MR, Benson MD, et al. Late-onset familial amyloid polyneuropathy in an American family of English origin. Neurology 1989;39:861-863.
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2. Oculoleptomeningeal Amyloidosis Secondary to the Rare Transthyretin c.381T>G (p.Ile127Met) Mutation;World Neurosurgery;2018-03
3. Causally treatable, hereditary neuropathies in Fabry's disease, transthyretin-related familial amyloidosis, and Pompe's disease;Acta Neurologica Scandinavica;2017-03-12
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