Observational studyJournal of the peripheral nervous system : JPNS2026
Neuropathy in Val122Ile Hereditary Transthyretin (ATTR) Amyloidosis: A Multicenter Retrospective Cohort Study.
Observational study in Journal of the peripheral nervous system : JPNS, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
aimsThe Val122Ile ATTR Amyloidosis has traditionally been linked to cardiac manifestations. Recent studies suggest that neuropathy may be relevant. In this study, we characterized its peripheral nerve manifestations in depth.
methodsThis was a national, multicenter, observational, retrospective study. Patients underwent careful clinical and neurophysiological evaluation. We excluded those with alternative etiologies.
resultsWe identified 246 Val122Ile carriers, including 240 heterozygous, 4 homozygous, and 2 compound heterozygous. Gender distribution was similar. Age of onset: 19-89 years, mean 53 ± 17. Self-reported ethnicity: White (26.7%), Black (17.3%), and Mixed (Pardo) (56.0%). Birthplaces spanned all Brazilian regions, mainly the Northeast. Among heterozygotes, 52 of 122 (42.6%) were symptomatic. Carpal tunnel syndrome (CTS) preceded polyneuropathy and/or cardiomyopathy in 69.2%. The most frequent onset manifestations, excluding CTS, were cardiomyopathy (52.9%), neuropathy (37.3%), and mixed phenotype (9.8%). Age of onset: 29-86 years (mean: 64.9 years). During follow-up, 14/27 cardiac patients developed neuropathy, and 8/19 neurologic patients developed cardiomyopathy, significantly increasing the mixed phenotype from 9.8% to 52.9%. Most patients with neuropathy presented with sensory or sensory and motor disease (62.2%), followed by small fiber neuropathy (32.4%), and isolated dysautonomia (5.4%).
interpretationNeuropathy is underrecognized in Val122Ile ATTR Amyloidosis, is frequent at disease onset, may be the sole manifestation, and may occur in White persons. CTS frequently preceded neuropathy, usually an axonal polyneuropathy, although atypical patterns were observed. This variant clusters in the Northeast region of Brazil.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.