Clinical and electrophysiological correlates of TTRala71 amyloid neuropathy

Marques, Wilson; Borgetti, Vinicius S.; Marques, Vanessa Daccach; Neder, Luciano; Junior, Facundo Ruiz; Barreira, Amilton Antunes

doi:10.1590/s0004-282x2010000200028

Cited by 2 publications

(4 citation statements)

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“…We have additionally found other four pathogenic variants, including two we had previously reported (TTRVal71Ala - Marques et al, 2010, andTTRAsp38Tyr -Lavigne-Moreira et al, 2015), and two recent findings (TTRIle107Val and Val122Ile).…”

Section: Discussionsupporting

confidence: 69%

“…To the best of our knowledge, the first non‐TTRMet30Val mutation in Brazil (TTRVal71Ala) was described by our group in 2010, in a patient who was initially diagnosed as having CIDP (Marques et al, ) . This mutation has also been found in Spanish, French, Irish, and Australian families (Almeida et al, ; Benson et al, ; Haagsma et al, ; Suan et al, ) .…”

Section: Discussionmentioning

confidence: 98%

“…TTR Val30Met also seems to be endemic in Brazil, most probably due to its strong Portuguese descent. Although no systematic study has been carried on, other mutations have been sporadically described (Saporta et al, 2009;Marques et al, 2010;Cruz, 2012;Ferreira et al, 2013;Lavigne-Moreira et al, 2015).…”

Section: Introductionmentioning

confidence: 99%

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The genetic heterogeneity of hereditary transthyretin amyloidosis in a sample of the Brazilian population

Lavigne‐Moreira

Marques

Gonçalves

et al. 2018

J Peripheral Nervous Sys

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To present the genetic heterogeneity of a sample of the Brazilian population with transthyretin (TTR) mutations. This cohort study was descriptive and retrospective, and enrolled patients with peripheral neuropathy of unknown cause that were found to have a mutation in the TTR gene during the process of etiological investigation, between July 1997 to January 2016. Over the study period, 129 point mutations were identified in 448 tested patients, of whom 128 were of Brazilian origin. The TTR Val30Met mutation was identified in 116 patients (90.6%); while 7 (4.7%) patients had a pathogenic non-TTR mutation and 7 (4.7%) carried non-pathogenic mutations (4.7%). The four non-TTRMet30 pathogenic mutations were TTR Aps38Tyr; TTR Ile107Val; TTR Val71Ala; and TTR Val122Ile. In the non-pathogenic group, we only found two mutations, including TTR Gly6Ser and TTR Thr119Thr. Our study depicts a scenario of greater genetic heterogeneity among Brazilian hereditary transthyretin amyloidosis (hATTR) patients with familial amyloidotic polyneuropathy (FAP). We expect that this number will grow fast over a short period of time, due to increasing availability of genetic tests, increasing knowledge of the disease and the multivariate origin of our population.

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