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
Acta Neurologica Belgica – Springer Journals
Published: Jun 5, 2018
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