A Val30Met sporadic familial amyloid polyneuropathy case with atypical presentation: upper limb onset of symptoms
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Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant disorder caused by the mutations of the transthyretin (TTR) gene. The mutant amyloidogenic TTR protein causes systemic accumulation of amyloid fibrils that result in organ dysfunction . Over 100 mutations in TTR gene are associated with the disease but still, the first identified Val30Met mutation make up 50% of the cases worldwide. In the three main regions in which TTR-FAP is endemic (Portugal, Sweden and Japan), the Val30Met mutation is the predominant genetic cause. However, in non-endemic regions genetic features are more heterogeneous . Clinical presentation is highly variable due to the interplay between several factors consisting of genotype, geographical origin of the patient, regional variation, penetrance of gene mutation and age at onset of symptoms . Length-dependent axonal sensory–motor and autonomic polyneuropathy is the hallmark feature of TTR-FAP hence, lower limb sensory...
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I declare that i have no conflict of interest. Author Arman Çakar declares that he has no conflict of interest. Author Hacer Durmuş-Tekçe declares that she has no conflict of interest. Author Yeşim Parman declares that she has no conflict of interest.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
Informed consent was obtained from all individual participants included in the study.
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