oculoleptomeningeal type amyloidosis (amyloidosis VII)
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Pathology
- generalized amyloidosis due to transthyretin amyloid deposition
- protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis
- includes leptomeningeal amyloidosis
- amyloid in the walls of leptomeningeal vessels, in pia mater, arachnoid, & subpial deposits
- some patients also develop vitreous amyloid deposition
Genetics
- associated with defects in transthyretin
Clinical manifestations
- seizures
- stroke-like episodes
- dementia
- psychomotor deterioration
- visual impairment with vitreous amyloid deposition
Management
- experimental
- siRNA in a lipid nanoparticle injected IV diminishes serum transthyretin levels for several weeks[2]
More general terms
- amyloidosis
- genetic disease of the peripheral nervous system
- genetic disease of the central nervous system
Additional terms
References
- ↑ OMIM https://mirror.omim.org/entry/105210
- ↑ 2.0 2.1 Coelho T et al. Safety and efficacy of RNAi therapy for transthyretin amyloidosis. N Engl J Med 2013 Aug 29; 369:819 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/23984729 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMoa1208760
Lachmann HJ. A new era in the treatment of amyloidosis? N Engl J Med 2013 Aug 29; 369:866 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/23984734 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMe1308768 - ↑ Yasgur BS New Agents Show Promise for Severe and Fatal Genetic Disease. Medscape - Jul 10, 2018. https://www.medscape.com/viewarticle/899112