Transthyretin familial amyloid polyneuropathy (TTR‐FAP): Parameters for early diagnosis
Sign Up to like & getrecommendations! Published in 2018 at "Brain and Behavior"
DOI: 10.1002/brb3.889
Abstract: Familial transthyretin amyloidosis is a life‐threatening disease presenting with sensorimotor and autonomic polyneuropathy. Delayed diagnosis has a detrimental effect on treatment and prognosis. To facilitate diagnosis, we analyzed data patterns of patients with transthyretin familial… read more here.
Keywords: transthyretin familial; diagnosis; amyloid polyneuropathy; ttr fap ... See more keywords
P71-S Transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurophysiological assessment in asymptomatic carriers
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Neurophysiology"
DOI: 10.1016/j.clinph.2019.04.599
Abstract: Background Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare hereditary disorder caused by mutations in the TTR gene. Unless treated, its course is very severe and death occurs after 7–10 years of symptoms onset. Genetic counseling… read more here.
Keywords: transthyretin familial; amyloid polyneuropathy; ttr fap; familial amyloid ... See more keywords
Extremely Early Onset Transthyretin Familial Amyloid Polyneuropathy with a Leu55Pro Mutation: A Pediatric Case Report and Literature Review.
Sign Up to like & getrecommendations! Published in 2019 at "Neuropediatrics"
DOI: 10.1055/s-0039-1693145
Abstract: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a life-threatening autosomal dominant disease caused by the deposition of amyloid fibrils composed of TTR proteins. Symptoms of this disease include progressive sensorimotor neuropathy, cardiomyopathy, and involvement of other… read more here.
Keywords: transthyretin familial; amyloid; ttr; amyloid polyneuropathy ... See more keywords
Vagus nerve ultrasound in transthyretin familial amyloid polyneuropathy: A pilot study
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DOI: 10.1111/jon.12956
Abstract: Autonomic dysfunction is common in transthyretin familial amyloid polyneuropathy (TTR‐FAP). Because ultrasonography is a powerful tool to study peripheral neuropathy, vagus nerve (VN) ultrasonography was used in our study to investigate the possible changes of… read more here.
Keywords: study; vagus nerve; transthyretin familial; familial amyloid ... See more keywords
Reader response: Natural history and survival in stage 1 Val30Met transthyretin familial amyloid polyneuropathy
Sign Up to like & getrecommendations! Published in 2019 at "Neurology"
DOI: 10.1212/wnl.0000000000007870
Abstract: In an observational study conducted in a single country, Coelho et al.1 reported favorable survival of patients with transthyretin familial amyloidosis polyneuropathy (TTR-FAP) who underwent liver transplantation (LTx) or received tafamidis. This report is important… read more here.
Keywords: natural history; response natural; history survival; reader response ... See more keywords
Nerve Ultrasound Comparison Between Transthyretin Familial Amyloid Polyneuropathy and Chronic Inflammatory Demyelinating Polyneuropathy
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DOI: 10.3389/fneur.2021.632096
Abstract: Backgrounds: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is frequently misdiagnosed as chronic inflammatory demyelinating polyneuropathy (CIDP) because of similar phenotypes in the two diseases. This study was intended to identify the role of nerve ultrasonography in… read more here.
Keywords: transthyretin familial; ttr fap; cidp; polyneuropathy ... See more keywords