Differentiating Factors in Hereditary Transthyretin Amyloidosis Mutations
Author Information
Author(s): Castellar-Leones Sandra Milena, Ruiz-Ospina Edicson, Diaz-Ruiz Jorge, Correa-Arrieta Cristian, Ruiz-Cortés Xiomara, Luzuriaga-Carpio Diana, Zambrano-Vera Dario, Cedeño-Quincha Jeanneth, Guerrero-Cepeda Luis, César-Chávez Daniel, Ortiz-Corredor Fernando
Primary Institution: Department of Physical Medicine and Rehabilitation, Facultad de Medicina, Universidad Nacional de Colombia
Hypothesis
This study aims to describe the neurological and functional characteristics of patients with hATTR associated with the Val142Ile and Ser43Asn mutations, as well as to identify possible differentiating factors between the two mutations.
Conclusion
The study identified significant neurophysiological and ultrasound markers that differentiate Val142Ile and Ser43Asn mutations in hATTR-PN patients.
Supporting Evidence
- Val142Ile carriers showed lower performance in the right NHP test.
- Ultrasound revealed increased CSA of the median nerve at the elbow and arm in Val142Ile carriers.
- The final random forest model identified the NHP test and CSA of the median and ulnar nerves as key discriminating variables.
Takeaway
This study looked at patients with a rare disease and found that different genetic mutations can cause different symptoms and nerve damage.
Methodology
This cross-sectional, multicenter study included 35 hATTR patients from rehabilitation centers in Ecuador and Colombia, using various neurological and functional assessments.
Potential Biases
Potential selection bias due to exclusion of patients with incomplete data.
Limitations
The cross-sectional design limits causal inferences, and the small sample size may reduce generalizability.
Participant Demographics
The study included 3 women and 7 men with Val142Ile mutation and 11 women and 14 men with Ser43Asn mutation.
Statistical Information
P-Value
p<0.001
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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