TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients

Luca Laurenti, Mario Sabatelli, Marco Luigetti, Amelia Conte, Alessandra Del Grande, Giulia Bisogni, Francesca Madia, Mauro Lo Monaco, Laura Obici, Giampaolo Merlini

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

31 Citazioni (Scopus)

Abstract

Familial amyloid polyneuropathy (FAP) is a rare condition caused by mutations of the transthyretin (TTR) gene and it is generally characterized by a length-dependent polyneuropathy affecting prevalently the small fibers. We reviewed clinical, electrophysiological and pathological findings of 15 unrelated patients with genetically confirmed TTR-FAP. All patients presented a progressive sensory-motor polyneuropathy. Pathological findings were negative for amyloid deposits in about half of the cases. Sequence analysis of TTR gene revealed the presence of three different mutations (p.Val30Met, p.Phe64Leu, and p.Ala120Ser). The p.Val30Met was the most frequently identified mutation and it often occurred in apparently sporadic cases. Conversely, the p.Phe64Leu generally presented in a high percentage of familial cases in patients coming from Southern Italy. Clinicians should consider, to avoid misdiagnosis, the screening for TTR mutations in patients presenting with progressive axonal polyneuropathy of undetermined etiology, including apparently sporadic cases with pathological examinations negative for amyloid deposition.
Lingua originaleEnglish
pagine (da-a)1057-1063
Numero di pagine7
RivistaNeurological Sciences
Volume34
DOI
Stato di pubblicazionePubblicato - 2012

Keywords

  • Amyloid

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