• Luísa Sousa, Catarina Pinto, Ana Azevedo, Liliana Igreja, Ana Marta, Joana Fernandes, Pedro Oliveira, Márcio Cardoso, Cristina Alves, SilvaAna Martins daAMDUnidade Corino de Andrade, Centro Hospitalar Universitário de Santo António, Porto, Portugal., Miguel Mendonça Pinto, Ana Paula Sousa, Teresa Coelho, and Ricardo Taipa.
• Instituto de Ciências Biomédicas Abel Salazar, University of Porto, Porto, Portugal.
• Amyloid. 2024 Aug 17: 161-6.

BackgroundCentral nervous system dysfunction is common in longstanding hereditary transthyretin amyloidosis (ATTRv) caused by the V30M (p.V50M) mutation. Neuropathology studies show leptomeningeal amyloid deposition and cerebral amyloid angiopathy (CAA). Brain MRI is widely used in the assessment of Aβ associated CAA but there are no systematic studies with brain MRI in ATTRv amyloidosis.Methodswe performed 3 T brain MRIs in 16 patients with longstanding (>14 years) ATTRV30M. We additionally retrospectively reviewed 48 brain MRIs from patients followed at our clinic. CNS symptoms and signs were systematically accessed, and MRIs were blindly reviewed for ischaemic and haemorrhagic lesions.Resultsin the prospective cohort, we found white matter hyperintensities in 8/16 patients (50%, Fazekas score> =1). There were no relevant microbleeds, large ischaemic or haemorrhagic lesions or superficial siderosis. In the retrospective cohort, microbleeds were found in 5/48 patients (10,4%), two of which with > =20 microbleeds. White matter hyperintensities were found in 20/48 cases (41.7%). White matter lesions, microbleeds and cortical atrophy were not associated with disease duration.Conclusionswhite matter hyperintensities are common in ATTRV30M, irrespective of disease duration. Haemorrhagic lesions are rare, even in patients with longstanding disease, suggesting the existence of other risk factors.

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