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oculoleptomeningeal type amyloidosis (amyloidosis VII)
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]
- inotersen (Tegsedi) or patisiran
- no adverse effects noted
Related
transthyretin; ATTR; prealbumin; TBPA (TTR PALB)
General
amyloidosis
genetic disease of the central nervous system
genetic disease of the peripheral nervous system
Properties
PROTEIN-PRECURSOR: transthyretin
Database Correlations
OMIM 105210
References
- OMIM :accession 105210
- Coelho T et al.
Safety and efficacy of RNAi therapy for transthyretin
amyloidosis.
N Engl J Med 2013 Aug 29; 369:819
PMID: 23984729
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
PMID: 23984734
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