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Updated: Jun 16, 2026
06:33
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
[Familial transthyretin amyloidosis]
Klinicheskaia Meditsina
|February 11, 2010
Summary
This study details a rare familial transthyretin amyloidosis case in Russia, caused by the TTR Cys 114 gene mutation. It highlights diverse clinical symptoms and autosomal dominant inheritance across four generations.
Area of Science:
- Genetics
- Neurology
- Cardiology
Background:
- Familial transthyretin amyloidosis is a rare genetic disorder.
- The TTR Cys 114 gene mutation is associated with this condition.
- Understanding its inheritance and clinical presentation is crucial for diagnosis and management.
Observation:
- A proband presented with symptoms of autonomous polyneuropathy and somatic nerve lesions.
- Ocular, speech, and cardiac abnormalities (restrictive amyloid cardiomyopathy) were observed.
- Amyloid deposition was confirmed in the intestines and sural nerve.
Findings:
- The TTR Cys 114 gene mutation was identified in multiple family members across four generations.
- Autosomal dominant inheritance pattern was established.
- One family member had amyloid deposits without clinical signs, suggesting variable penetrance.
Implications:
- This case expands the understanding of TTR Cys 114 gene polymorphism's clinical spectrum.
- Early diagnosis and genetic counseling are crucial for affected families.
- Further research into the TTR Cys 114 mutation's origin and clinical variability is warranted.
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