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Updated: Jun 1, 2026
06:33
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Spinal multifocal amyloidosis derived from wild-type transthyretin
Takanao Sueyoshi1, Mitsuharu Ueda, Akira Sei
1Department of Orthopaedic and Neuro-Musculoskeletal Surgery, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, Japan.
Summary
This study presents the first case of spinal amyloidosis caused by wild-type transthyretin (TTR), leading to nerve damage and spinal destruction. Findings suggest TTR amyloidosis manifestations are more diverse than previously recognized.
Area of Science:
- Neurology
- Rheumatology
- Pathology
Background:
- Spinal amyloidosis, a rare condition, can be systemic or localized, but its pathogenesis is not fully understood.
- Transthyretin (TTR) amyloidosis is linked to wild-type (WT TTR) causing senile systemic amyloidosis (SSA) or mutated TTR causing familial amyloidosis.
Observation:
- This report details the first identified case of multifocal spinal amyloidosis caused by WT TTR.
- The patient presented with radiculomyelopathy and destructive spondylosis.
Findings:
- The clinical presentation suggests the patient may have developed senile systemic amyloidosis (SSA).
- Wild-type TTR is identified as a potential precursor protein in spinal amyloidosis.
Implications:
- This case expands the known clinical spectrum of TTR-related amyloidosis.
- WT TTR should be considered in the differential diagnosis of spinal amyloidosis with neurological and structural spinal complications.
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