Spinal MRI findings in UK patients with hereditary ATTR amyloidosis

• Published in: Journal of neurology, neurosurgery and psychiatry Vol. 94; no. Suppl 1; p. A20
• Main Authors: O’Donnell Luke, Rossor, Alexander, Carganillo Roy, Skorupinska Mariola, Gilbertson, Janet A, Rowczenio Dorota, Matilde, Laura, Gillmore, Julian D, Reilly, Mary M
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group LTD 01.11.2023
• Subjects: Amyloidosis; Spinal stenosis
• ISSN: 0022-3050; 1468-330X
• DOI: 10.1136/JNNP-2023-ABN.60

BackgroundHereditary transthyretin (ATTRv) amyloidosis is known to be associated with spinal stenosis through deposition of amyloid in the ligamentum flavum (LF).AimsTo analyse lumbosacral spinal MRI changes and associated symptoms/signs in patients with ATTRv amyloidosis some of whom were subsequently treated with gene silencing therapy.MethodsWe performed a retrospective analysis of 48 ATTRv patients who had a lumbosacral MRI scan between 2001 and 2022.ResultsLF hypertrophy was demonstrated in 24 patients and 11 had symptoms of spinal claudication at baseline imaging. LF hypertrophy was present across multiple pathogenic TTR variants with the highest proportion in the T60A and V122I variants. 18 patients had LF hypertrophy with associated spinal stenosis, 5 of which were severe. 12 patients had repeat imaging. One patient was on gene silencing therapy for the full duration between scans and remained radiologically stable, while 6 patients who were not on disease-modifying therapy for the full duration between scans developed new evidence of LF hypertro- phy and/or worsening spinal changes.ConclusionLF hypertrophy is seen in association with multiple amyloidogenic TTR variants and can be associated with symptomatic spinal stenosis. Further studies are needed to assess if gene silencing therapy reduces LF hypertrophy and symptomatic spinal stenosis.