Nerve ultrasonography features in hereditary transthyretin amyloidosis with V30M mutation and polyneuropathy

2021 ◽  
Author(s):  
Alessandro Salvalaggio ◽  
Daniele Coraci ◽  
Mario Cacciavillani ◽  
Luca Padua ◽  
Chiara Briani
Keyword(s):  
Transthyretin Amyloidosis ◽  
V30m Mutation ◽  
Nerve Ultrasonography ◽  
Hereditary Transthyretin Amyloidosis

CNS Involvement in Hereditary Transthyretin Amyloidosis

Neurology ◽  
2021 ◽  
Vol 97 (24) ◽  
pp. 1111-1119
Author(s):  
Luísa Sousa ◽  
Teresa Coelho ◽  
Ricardo Taipa
Keyword(s):  
Case Reports ◽  
Late Complication ◽  
Amyloid Angiopathy ◽  
Cns Involvement ◽  
Transthyretin Amyloidosis ◽  
Systemic Involvement ◽  
Cranial Nerve Dysfunction ◽  
V30m Mutation ◽  
Cns Dysfunction ◽  
Hereditary Transthyretin Amyloidosis

Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is predominantly a disease of the peripheral nerves, heart, kidney, and eye. CNS involvement has been a marginal issue in research and the clinical setting until recently. Growing evidence shows that leptomeningeal amyloid accumulation is frequent and present from early stages of ATTRv amyloidosis. Several recent studies show CNS symptoms arise as a common late complication in patients with the V30M mutation after at least 14 years of symptomatic peripheral nerve disease. Conversely, in non-V30M patients, there are several descriptions, mostly case reports, of patients presenting with severe phenotypes of ocular and CNS dysfunction (oculoleptomeningeal amyloidosis), with little systemic involvement. This phenotype is found in rare families worldwide, associated with at least 14 mutations. In both patients with late and early onset CNS dysfunction, symptoms include transient focal neurologic episodes, hemorrhagic and ischemic stroke, cognitive decline, and cranial nerve dysfunction. Pathologically, there is severe amyloid deposition in the leptomeninges and cerebral amyloid angiopathy of leptomeningeal and penetrating vessels. These amyloid aggregates are formed mostly by CSF-produced transthyretin (TTR) and seem resistant to the available ATTRv therapies that increase the stability or reduce the production of plasma TTR. This indicates that CNS involvement will become a meaningful issue in patient management in upcoming years.

Characterization of population genetic structure of hereditary transthyretin amyloidosis in Bulgaria

Amyloid ◽  
2021 ◽  
pp. 1-7
Author(s):  
Zornitsa Pavlova ◽  
Stayko Sarafov ◽  
Tihomir Todorov ◽  
Andrey Kirov ◽  
Teodora Chamova ◽  
...  
Keyword(s):  
Genetic Structure ◽  
Population Genetic Structure ◽  
Population Genetic ◽  
Transthyretin Amyloidosis ◽  
Hereditary Transthyretin Amyloidosis

Genomic screening identifies individuals at high risk for hereditary transthyretin amyloidosis

2021 ◽  
Vol 132 ◽  
pp. S348-S349
Author(s):  
Emily Soper ◽  
Sabrina A. Suckiel ◽  
Giovanna Braganza ◽  
Amy Kontorovich ◽  
Eimear Kenny ◽  
...  
Keyword(s):  
High Risk ◽  
Transthyretin Amyloidosis ◽  
Genomic Screening ◽  
Hereditary Transthyretin Amyloidosis

Treatment satisfaction for gene silencing pharmacotherapies for the treatment of hereditary transthyretin amyloidosis with polyneuropathy

2021 ◽  
Vol 429 ◽  
pp. 119346
Author(s):  
Asia Sikora Kessler ◽  
Duncan Brown ◽  
Montserrat Llonch ◽  
Aaron Yarlas ◽  
Kristen Mccausland
Keyword(s):  
Gene Silencing ◽  
Treatment Satisfaction ◽  
Transthyretin Amyloidosis ◽  
Hereditary Transthyretin Amyloidosis
Sign in / Sign up

Export Citation Format

Share Document