Familial TTR amyloid polyneuropathy (FAP TTR): leptomeningeal
Evidence-based neurology checklist on familial ttr amyloid polyneuropathy (fap ttr): leptomeningeal: Presentation Leptomeningeal TTR occurs in advanced stages of TTR-FAP It commonly presents as cerebral amyloid angiopathy (CAA) It may also present as ocular amyloid Clinical features Investigations…
Presentation
- Leptomeningeal TTR occurs in advanced stages of TTR-FAP
- It commonly presents as cerebral amyloid angiopathy (CAA)
- It may also present as ocular amyloid
Clinical features
Investigations
Investigational treatments
References
- Ando Y, Coelho T, Berk JL, et al. Guideline for transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis 2013; 8:31.
- Blevins G, Macaulay R, Harder S, et al. Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His. Neurology 2003; 60:1625-1630.
- Jin K, Sato S, Takahashi T, et al. Familial leptomeningeal amyloidosis with a transthyretin variant Asp18Gly representing related subarachnoid haemorrhages with superficial siderosis. JNNP 2004; 75:1463-1466.
- Pinheiro F, Varejão N, Esperante S, Santos J, et al. Tolcapone, a potent aggregation inhibitor for the treatment of familial leptomeningeal amyloidosis. FEBS J 2021; 288:310-324.
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