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Acta Neurologica Belgica

, Volume 119, Issue 4, pp 627–628 | Cite as

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

  • Erdi ŞahinEmail author
  • Arman Çakar
  • Hacer Durmuş-Tekçe
  • Yeşim Parman
Letter to the Editor
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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 [1]. 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 [2]. 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 [2]. Length-dependent axonal sensory–motor and autonomic polyneuropathy is the hallmark feature of TTR-FAP hence, lower limb sensory...

Notes

Compliance with ethical standards

Conflict of interest

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.

Ethical approval

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

Informed consent was obtained from all individual participants included in the study.

References

  1. 1.
    Andrade C (1952) A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain J Neurol 75(3):408–427CrossRefGoogle Scholar
  2. 2.
    Parman Y, Adams D, Obici L, Galan L, Guergueltcheva V, Suhr OB, Coelho T, European Network for T-F (2016) Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP. Curr Opin Neurol 29(Suppl 1):S3–S13.  https://doi.org/10.1097/WCO.0000000000000288 CrossRefGoogle Scholar
  3. 3.
    Koike H, Hashimoto R, Tomita M, Kawagashira Y, Iijima M, Tanaka F, Sobue G (2011) Diagnosis of sporadic transthyretin Val30Met familial amyloid polyneuropathy: a practical analysis. Amyloid Int J Exp Clin Investig Off J Int Soc Amyloidosis 18(2):53–62.  https://doi.org/10.3109/13506129.2011.565524 CrossRefGoogle Scholar
  4. 4.
    Durmus-Tekce H, Matur Z, Mert Atmaca M, Poda M, Cakar A, Hidir Ulas U, Oflazer-Serdaroglu P, Deymeer F, Parman YG (2016) Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey. Neuromuscul Disord NMD 26(7):441–446.  https://doi.org/10.1016/j.nmd.2016.04.013 CrossRefPubMedGoogle Scholar
  5. 5.
    Conceicao I, Gonzalez-Duarte A, Obici L, Schmidt HH, Simoneau D, Ong ML, Amass L (2016) “Red-flag” symptom clusters in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst JPNS 21(1):5–9.  https://doi.org/10.1111/jns.12153 CrossRefPubMedGoogle Scholar

Copyright information

© Belgian Neurological Society 2018

Authors and Affiliations

  1. 1.Department of Neurology, Istanbul Faculty of MedicineIstanbul UniversityIstanbulTurkey

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