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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
A Case of Wild-type Transthyretin Amyloidosis with Amyloid Deposition in the Intervertebral Disc
Marina Masui1, Hiromasa Matsuno1, Motohiro Okumura1
1Department of Neurology, The Jikei University School of Medicine, Japan.
Abstract:
A 72-year-old woman, previously diagnosed with wild-type transthyretin amyloidosis (ATTRwt) based on amyloid deposits in specimens from carpal tunnel release, was admitted for an evaluation of gait disturbance. She was diagnosed with spinal canal stenosis and underwent cervical laminoplasty, followed by anterior-posterior lumbar fusion with partial laminectomy. Histopathology revealed transthyretin-positive amyloid in the hypertrophied ligamentum flavum of both the cervical and lumbar spines, as well as in a bulging lumbar intervertebral disc. This case represents a rare instance of amyloid deposition in the intervertebral disc of a patient with ATTRwt, suggesting a potential role of amyloid in intervertebral disc degeneration.
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