Familial amyloid polyneuropathy due to p.ALA140 SER mutation

{Table 1}{Table 2} The TTR gene analysis was performed as TTR-FAP was suspected because of the presence of sensory motor axonal neuropathy superimposed on bilateral carpal tunnel syndrome without an identifiable etiology, as well as the presence of autonomic involvement, weight loss, and cardiomyopa...

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Bibliographic Details
Published in:Neurology India 2018-01, Vol.66 (1), p.238-241
Main Authors: Gürsoy, Azize, Yeşil, Gözde, Ergun, Selma, Tosuner, Zeynep
Format: Article
Language:English
Subjects:
Biopsy
Cardiomyopathy
Carpal tunnel syndrome
Consent
Diabetic neuropathy
Immunoglobulins
Mutation
Patients
Proteins
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Summary:{Table 1}{Table 2} The TTR gene analysis was performed as TTR-FAP was suspected because of the presence of sensory motor axonal neuropathy superimposed on bilateral carpal tunnel syndrome without an identifiable etiology, as well as the presence of autonomic involvement, weight loss, and cardiomyopathy. [4] Another reported patient was an Italian woman with her onset of symptoms at 64 years and with nerve conduction study findings consistent with severe carpal tunnel syndrome. First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy.
ISSN:0028-3886
1998-4022
DOI:10.4103/0028-3886.222879