Oculoleptomeningeal Amyloidosis Due to Transthyretin p.Y89H (Y69H) Variant

J Neuropathol Exp Neurol. 2020 Oct 1;79(10):1134-1136. doi: 10.1093/jnen/nlaa075.

Authors

Giseli S Quintanilha¹, Marcia W Cruz², Marcus Tulius T Silva^{1

3}, Leila Chimelli^{2

4}

Affiliations

¹ Neurology Department, Complexo Hospitalar de Niterói (CHN), Niterói, Brazil.
² Neuroinfection Research Laboratory, National Institute of Infectology Evandro Chagas, FIOCRUZ, Rio de Janeiro, Brazil.
³ Instituto Nacional de Infectologia Evandro Chagas (INI), FIOCRUZ, Rio de Janeiro, Brazil.
⁴ Laboratory of Neuropathology, State Institute of Brain, Rio de Janeiro, Brazil.

PMID: 32856080
DOI: 10.1093/jnen/nlaa075

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Amyloid Neuropathies, Familial / genetics*
Amyloid Neuropathies, Familial / pathology*
Evoked Potentials, Visual / physiology
Female
Heterozygote
Humans
Male
Meninges / pathology
Mutation
Pedigree
Prealbumin / genetics*

Substances

Prealbumin
TTR protein, human

Supplementary concepts

Amyloidosis, Hereditary, Transthyretin-Related