p.Val142lle/p.Val122lle (C.424G>A) Transthyretin Mutation Presenting Exclusively As Small Fiber Neuropathy

Authors

  • Urvi Desai MD Atrium Health
  • Hirstelina Ilieva MD
  • Amanda Peltier MD

DOI:

https://doi.org/10.17161/rrnmf.v3i3.16362

Keywords:

TTR-FAP: Transthyretin-associated familial amyloidotic polyneuropathy;, SFN: Small Fiber Neuropathy

Abstract

Familial amyloid polyneuropathy is a rare autosomal dominant disorder caused by mutations in the transthyretin gene, TTR. More than 100 mutations in the TTR gene are known. p.Val30Met was identified first as a cause of FAP and is the most common mutation worldwide. p.Val30Met is associated with peripheral neuropathy while p.Val142lle (C.424G>A) (also known as p.Val122lle)  is associated with cardiac amyloidosis [1, 2, 3] . In this context, we report a patient harboring p.Val142lle mutation with exclusive small fiber neuropathy and absence of any cardiac involvement representing genotypic-phenotypic heterogenicity.

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References

References

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Published

2022-09-26

How to Cite

Desai, U., Ilieva, H., & Peltier, A. (2022). p.Val142lle/p.Val122lle (C.424G>A) Transthyretin Mutation Presenting Exclusively As Small Fiber Neuropathy. RRNMF Neuromuscular Journal, 3(3), 11–16. https://doi.org/10.17161/rrnmf.v3i3.16362

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Section

Clinic Stuff (Case Reports)