Peripheral Nerve Ultrasound Findings in Hereditary Transthyretin Amyloidosis in Brazil
Abstract
1. Introduction
2. Materials and Methods
3. Results
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
Abbreviations
ATTRv | Hereditary transthyretin amyloidosis (variant) |
TTR | Transthyretin |
PN | Polyneuropathy |
ATTRv-PN | Transthyretin amyloidosis with polyneuropathy |
ATTRv-C | Asymptomatic transthyretin variant carrier |
CSA | Cross-sectional area |
CTS | Carpal tunnel syndrome |
PND | Polyneuropathy Disability scale |
NCS | Nerve conduction studies |
EMG | Electromyography |
CMT | Charcot–Marie–Tooth disease |
CIDP | Chronic inflammatory demyelinating polyradiculoneuropathy |
GBS | Guillain–Barré syndrome |
IENF | Intraepidermal nerve fiber |
NfL | Neurofilament light chain |
MRN | Magnetic resonance neurography |
DTI | Diffusion tensor imaging |
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ATTRv-PN | ATTRv-C | |
---|---|---|
Number of patients | 31 | 41 |
Gender | 17 males (55%)/14 females (45%) | 26 females (63%)/15 males (37%) |
Age (y) | 56.25 (range: 34 to 81) | 42.82 (range: 20 to 69) |
BMI | 26.1 kg/m2 (5.6) | 25.8 kg/m2 (5.2) |
TTR variants | Ile107Val (10), Val30Met (9), Val122Ile (9), Ala97Ser (1) Gli67Glu (1), Val30Met and Val122Ile (1) | Val122Ile (30), Ile107Val (7), Val30Met (2), Ala97Ser (1), Thr80Ala (1) |
PND stage | 1 (24)/2 (4)/3a (2)/3b (1) | 0 (41) |
Treatment | Tafamidis (22); Patisiran (3); Inotersen (2); Liver transplantation (2); Vutrisiran (1); No treatment (1) | No treatment (41) |
Site | n | ATTRv-PN CSA | Ref CSA | p Value |
---|---|---|---|---|
Median Nerve at the wrist | 31 | 10.17 (2.95) | 8.3 | 0.0075 |
Median Nerve at the forearm | 31 | 6.85 (2.84) | 6.4 | 0.9064 |
Median Nerve at the arm | 12 | 9.8 (1.8) | 8.3 | 0.0239 |
C6 root | 12 | 8.55 (1.38) | 5.8 | 0.0001 |
Brachial plexus | 12 | 70.82 (18.8) | 46.13 | 0.0001 |
Site | n | ATTRv-Carriers CSA | Ref CSA | p Value |
---|---|---|---|---|
Median Nerve at the wrist | 41 | 10.44 (2.76) | 8.3 | 0.0001 |
Median Nerve at the forearm | 41 | 6.12 (1.19) | 6.4 | 0.139 |
Median Nerve at the arm | 24 | 8.9 (2.04) | 8.3 | 0.163 |
C6 root | 24 | 8.42 (2.10) | 5.8 | 0.0001 |
Brachial plexus | 24 | 61.97 (14.1) | 46.13 | 0.0001 |
ATTRv-PN | ATTRv-C | |
---|---|---|
Number of patients | 31 | 41 |
Clinical Complaints | 64.5% | 14.6% |
Median Nerve at Wrist (>10 mm2) | 47.16% | 52.4% |
Wrist/Forearm ratio (>1.4) | 61.3% | 73.8% |
Median Nerve CSA Range (mm2) | 5.4–14.1 | 6.47–19.1 |
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Camelo-Filho, A.E.; Covaleski, A.P.P.M.; Brito, L.A.; Rodrigues, C.L.; Moreira, A.L. Peripheral Nerve Ultrasound Findings in Hereditary Transthyretin Amyloidosis in Brazil. Diagnostics 2025, 15, 2556. https://doi.org/10.3390/diagnostics15202556
Camelo-Filho AE, Covaleski APPM, Brito LA, Rodrigues CL, Moreira AL. Peripheral Nerve Ultrasound Findings in Hereditary Transthyretin Amyloidosis in Brazil. Diagnostics. 2025; 15(20):2556. https://doi.org/10.3390/diagnostics15202556
Chicago/Turabian StyleCamelo-Filho, Antonio Edvan, Anna Paula Paranhos Miranda Covaleski, Lara Albuquerque Brito, Cleonisio Leite Rodrigues, and Ana Lucila Moreira. 2025. "Peripheral Nerve Ultrasound Findings in Hereditary Transthyretin Amyloidosis in Brazil" Diagnostics 15, no. 20: 2556. https://doi.org/10.3390/diagnostics15202556
APA StyleCamelo-Filho, A. E., Covaleski, A. P. P. M., Brito, L. A., Rodrigues, C. L., & Moreira, A. L. (2025). Peripheral Nerve Ultrasound Findings in Hereditary Transthyretin Amyloidosis in Brazil. Diagnostics, 15(20), 2556. https://doi.org/10.3390/diagnostics15202556