transthyretin, amyloid
Clinical characteristics and prognosis of Chinese patients with hereditary transthyretin amyloid cardiomyopathy
... hereditary transthyretin amyloid cardiomyopathy to im- prove clinical awareness and meet the challenge of mis- ...hereditary transthyretin amyloid cardiomyopathy in China and analyze its ...
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Influence of baseline neurologic severity on disease progression and the associated disease-modifying effects of tafamidis in patients with transthyretin amyloid polyneuropathy
... Transthyretin amyloid polyneuropathy (ATTR-PN) is a rare, systemic condition characterized by TTR gene mutations that result in pervasive amyloid accumulation in peripheral nerve tissue and vital ...
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Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series
... We describe 542 cases of symptomatic hereditary transthyretin amyloid polyneuropathy (ATTR-PN) identified through a review of the literature published between 2005 and 2016. Approximately 18% of the cases ...
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Natural history and survival in stage 1 Val30Met transthyretin familial amyloid polyneuropathy
... familial amyloid polyneuropathy (TTR-FAP) is an autosomal-dominant, adult-onset, progressive neurodegenerative systemic disease, described in 1952 by Cor- ino de ...
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Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type Definition of molecular abnormality in transthyretin (prealbumin)
... to transthyretin (TTR), the plasma protein that is usually referred to as ...on amyloid fibril protein (AFp) isolated from tissues of two Portuguese patients who died with familial amyloidosis, and on TTR ...
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Tc-HDP quantitative SPECT/CT in transthyretin cardiac amyloid and the development of a reference interval for myocardial uptake in the non-affected population
... of amyloid fibrils in the ...cardiac amyloid can be acquired (wild type), or hereditary (associated with transthyretin genetic ...cardiac amyloid patients present with heart failure, but ...
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Macular and optic disc edema and retinal vascular leakage in familial amyloid polyneuropathy with a transthyretin Val30Met mutation: a case report
... Familial amyloid polyneuropathy (FAP) or paramyloido- sis is a heterogenous group of autosomal dominant dis- orders characterized by extracellular amyloid deposition in peripheral nerves, cardiac muscle, ...
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Epidemiology of transthyretin-associated familial amyloid polyneuropathy in the Majorcan area: Son Llàtzer Hospital descriptive study
... Background: Transthyretin-associated Familial Amyloid Polyneuropathy (TTR-FAP) is an autosomal dominant disease caused by the deposition of abnormal transthyretin that results from a gene ...
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Prevalence of hereditary transthyretin amyloid polyneuropathy in idiopathic progressive neuropathy in conurban areas
... The significance of the p.Gly26Ser variant in terms of amyloid formation remains to be determined. There is some evidence that in cases of bioptically confirmed small fibre neuropathy with autonomic symptoms, ...
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Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm
... tissue, amyloid fibrils may deposit in various organs and tissues resulting in progressive dysfunction [1, 14, 15, ...63–66]. Amyloid deposition in the media and adventitia of medium-sized and small ...
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Transthyretin Related Familial Amyloid Polyneuropathy: Evaluation of CSF Enhancement on Serial T1 Weighted and Fluid Attenuated Inversion Recovery Images following Intravenous Contrast Administration
... amyloidosis. It initially presents with polyneuropathy and autonomic dysfunction and progresses to involve many organs (1, 2). It is an autosomal-dominant dis- order attributable to mutation in the gene for TTR. More ...
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THAOS: Gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare disease
... ATTR: Transthyretin amyloid; CI: Confidence interval; I68L: Isoleucine substituted for leucine at position 68; FAC: Familial amyloid cardiomyopathy; FAP: Familial amyloid polyneuropathy; GI: ...
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Guideline of transthyretin-related hereditary amyloidosis for clinicians
... The cornerstone of transplantation is organ availability. Despite advances in this field, a significant proportion of patients with liver failure may die without a chance at liver replacement. Because liver involvement ...
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Recent advances in transthyretin amyloidosis therapy
... Two drugs—tafamidis, which is a novel TTR stabilizer, and diflunisal, which is a nonsteroidal anti-inflammatory drug developed in 1971 and can stabilize TTR tetramers— are undergoing clinical development throughout the ...
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Autoimmune response to transthyretin in juvenile idiopathic arthritis
... The finding of TTR aggregates in the SF, synovial membrane, and eye (22, 26, 39) and the finding that JIA affects young children led us to hypothesize that JIA could be another manifestation of a familial amy- loidosis ...
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Transthyretin—A Key Gene Involved in Regulating Learning and Memory in Brain, and Providing Neuroprotection in Alzheimer Disease via Neuronal Synthesis of Transthyretin Protein
... the amyloid beta-peptide deposition in the brain [1] [2]. The transthyretin gene is mainly expressed in the liver and choroid plexus of the ...brain. Transthyretin plays a very important role in ...
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Resveratrol Administration Increases Transthyretin Protein Levels, Ameliorating AD Features: The Importance of Transthyretin Tetrameric Stability
... mid-1990s to be the major Aβ binding protein in cerebrospinal fluid (CSF). The authors described that TTR was able to bind and sequester Aβ, inhibiting its toxicity and deposition, and that when the sequestration failed, ...
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Circulating biomarkers that predict incident dementia
... beta-site amyloid precursor protein-cleaving enzyme 1, transthyretin, butyrylcholinesterase and choline acetyl- transferase); markers of neuronal injury (such as neuron-specific enolase), of astroglial ...
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Transthyretin and the brain re-visited: Is neuronal synthesis of transthyretin protective in Alzheimer's disease?
... systemic amyloid precursor transthyretin (TTR) could interact with the amyloidogenic b- amyloid (Ab) peptide of Alzheimer ’ s disease ...one amyloid precursor could actually inhibit ...
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Axon reflex–mediated vasodilation is reduced in proportion to disease severity in TTR-FAP
... Familial amyloid polyneuropathies (FAPs) are a group of life- threatening multisystem disorders transmitted as an autoso- mal dominant ...of amyloid fibrils most commonly due to a transthyretin (TTR) ...
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