A Val30Met sporadic familial amyloid polyneuropathy case with atypical presentation: upper limb onset of symptoms

A Val30Met sporadic familial amyloid polyneuropathy case with atypical presentation: upper limb... Acta Neurologica Belgica https://doi.org/10.1007/s13760-018-0959-z LE T TER TO  THE   EDITOR A Val30Met sporadic familial amyloid polyneuropathy case with atypical presentation: upper limb onset of symptoms 1 1 1 1 Erdi Şahin  · Arman Çakar  · Hacer Durmuş‑Tekçe  · Yeşim Parman Received: 27 May 2018 / Accepted: 3 June 2018 © Belgian Neurological Society 2018 Transthyretin-related familial amyloid polyneuropathy to his left hand in several months. He was diagnosed as (TTR-FAP) is an autosomal dominant disorder caused by bilateral carpal tunnel syndrome and underwent bilateral the mutations of the transthyretin (TTR) gene. The mutant surgical carpal tunnel ligament release. However, he gradu- amyloidogenic TTR protein causes systemic accumulation ally worsened with tingling and numbness spreading to his of amyloid fibrils that result in organ dysfunction [1 ]. Over forearms followed by weakness in both hands without any 100 mutations in TTR gene are associated with the disease significant lower limb symptoms. He has had recurrent con- but still, the first identified Val30Met mutation make up 50% stipation, orthostatism and impotence, which are suggestive of the cases worldwide. In the three main regions in which of autonomic involvement, for 3 years. Two years after the TTR-FAP is endemic (Portugal, Sweden and Japan), the Val- onset of the http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Acta Neurologica Belgica Springer Journals

A Val30Met sporadic familial amyloid polyneuropathy case with atypical presentation: upper limb onset of symptoms

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Publisher
Springer International Publishing
Copyright
Copyright © 2018 by Belgian Neurological Society
Subject
Biomedicine; Neurosciences; Neurology; Neuroradiology; Medicine/Public Health, general
ISSN
0300-9009
eISSN
2240-2993
D.O.I.
10.1007/s13760-018-0959-z
Publisher site
See Article on Publisher Site

Abstract

Acta Neurologica Belgica https://doi.org/10.1007/s13760-018-0959-z LE T TER TO  THE   EDITOR A Val30Met sporadic familial amyloid polyneuropathy case with atypical presentation: upper limb onset of symptoms 1 1 1 1 Erdi Şahin  · Arman Çakar  · Hacer Durmuş‑Tekçe  · Yeşim Parman Received: 27 May 2018 / Accepted: 3 June 2018 © Belgian Neurological Society 2018 Transthyretin-related familial amyloid polyneuropathy to his left hand in several months. He was diagnosed as (TTR-FAP) is an autosomal dominant disorder caused by bilateral carpal tunnel syndrome and underwent bilateral the mutations of the transthyretin (TTR) gene. The mutant surgical carpal tunnel ligament release. However, he gradu- amyloidogenic TTR protein causes systemic accumulation ally worsened with tingling and numbness spreading to his of amyloid fibrils that result in organ dysfunction [1 ]. Over forearms followed by weakness in both hands without any 100 mutations in TTR gene are associated with the disease significant lower limb symptoms. He has had recurrent con- but still, the first identified Val30Met mutation make up 50% stipation, orthostatism and impotence, which are suggestive of the cases worldwide. In the three main regions in which of autonomic involvement, for 3 years. Two years after the TTR-FAP is endemic (Portugal, Sweden and Japan), the Val- onset of the

Journal

Acta Neurologica BelgicaSpringer Journals

Published: Jun 5, 2018

References

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