Familial TTR amyloid polyneuropathy (FAP TTR): clinical features
Evidence-based neurology checklist on familial ttr amyloid polyneuropathy (fap ttr): clinical features: Genetics TTR is the commonest cause of familial amyloid polyneuropathy Transmission is autosomal dominant with possible anticipation There are more than 100 TTR mutations The Val30Met mutation…
Genetics
- TTR is the commonest cause of familial amyloid polyneuropathy
- Transmission is autosomal dominant with possible anticipation
- There are more than 100 TTR mutations
- The Val30Met mutation is the commonest mutation
- 30% have a non-familial presentation
Neuropathy: sensorimotor
Neuropathy: others
Central neurological features
Cardiomyopathy
Ophthalmic features
Other features
Red flag indicators of FAP
Mean duration to death
References
- Ando Y, Coelho T, Berk JL, et al. Guideline for transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis 2013; 8:31.
- Plante-Bordeneuve V, Ferreira A, Lalu T, et al. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology 2007; 69:693-698.
- Koike H, Tanaka F, Hashimoto R, et al. Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas. JNNP 2012; 83:152-158.
- Cappellari M, Cavallaro T, Ferrarini M, et al. Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. J Peripher Nerv Syst 2011; 16:119-129.
- Tahara N, Honda A, Ueda M, Fukumoto Y. Popeye's sign and transthyretin amyloidosis. Eur Heart J 2022; 43:3000.
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