ArticleFrontiers in neurology2022
The Frequency of V122I Transthyretin Mutation in a Cohort of African American Individuals With Bilateral Carpal Tunnel Syndrome.
Article in Frontiers in neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 8 citations in OpenAlex.
- Tenosynovial and Transverse Carpal Ligament Biopsy for Early Transthyretin Amyloidosis Cardiomyopathy Detection: A Systematic Review and African American Retrospective Cohort Study.Journal of hand surgery global online · 2026Article
- Neuropathy in Val122Ile Hereditary Transthyretin (ATTR) Amyloidosis: A Multicenter Retrospective Cohort Study.Journal of the peripheral nervous system : JPNS · 2026Observational
- Transthyretin V122I variant and protein affect cardiac severity and mortality in sickle cell disease.Blood advances · 2026Observational
- Cardiac amyloidosis risk across ethnoracial and clinical subgroups: a five-year national study.American journal of cardiovascular disease · 2026Article
- Associations between pathophysiological traits and symptom development in retrospective analysis of V30M and V122I transthyretin amyloidosis.International journal of cardiology. Heart & vasculature · 2025Article
- Carpal Tunnel Syndrome as a Potential Indicator of Cardiac Amyloidosis: A Systematic Review and Meta-Analysis.Cureus · 2024Review
- Non-Cardiac Amyloidosis Findings Are Not Increased in African American Carriers ofJournal of personalized medicine · 2024Article
- The Transthyretin Amyloidosis - Quality of Life (ATTR-QOL) Questionnaire: Development of a Conceptual Model and Disease-Specific Patient-Reported Outcome Measure.Patient related outcome measures · 2023Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: Hereditary transthyretin amyloidosis (hATTR) can cause multisystem organ disorders including polyneuropathy and cardiomyopathy. Amongst the many known pathologic mutations of the transthyretin ( Methodology: Adult African American patients without prior history of amyloidosis diagnosed with bilateral CTS were recruited for the study. They received genetic testing to screen for a Result: Two of the sixteen patients (12.5%) in this cohort were found to have the V122I mutation. The absence of polyneuropathy and cardiomyopathy symptoms, presence of other CTS risk factors, and absence of family history of CTS and cardiomyopathy did not decrease the likelihood of V122I mutation in this cohort. Conclusion: The frequency of V122I transthyretin mutation in African Americans with bilateral CTS may be higher than 3-4%. The presence of bilateral CTS alone may be a justification to screen for
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