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
A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal
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DOI: 10.1007/s12035-017-0593-4
Abstract: Although all familial amyloid polyneuropathy (FAP) ATTRV30M patients carry the same causative mutation, early ( read more here.
Keywords: late onset; age; amyloid polyneuropathy; familial amyloid ... See more keywords
S39 Familial amyloid polyneuropathy (FAP): All aspects of the disease from diagnosis to treatment: Disease description: What is FAP?
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Neurophysiology"
DOI: 10.1016/j.clinph.2017.07.050
Abstract: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare autosomal dominant disorder induced by the deposition of the mutated TTR protein as amyloid fibrils. It is a multisystemic disorder affecting several organs including but not limited… read more here.
Keywords: amyloid; diagnosis; amyloid polyneuropathy; familial amyloid ... See more keywords
The value of electrochemical skin conductance measurement using Sudoscan® in the assessment of patients with familial amyloid polyneuropathy
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Neurophysiology"
DOI: 10.1016/j.clinph.2018.05.005
Abstract: OBJECTIVE To reappraise the value of electrochemical skin conductance (ESC) measurement by Sudoscan® to assess the distal involvement of small autonomic fibers in familial amyloid polyneuropathy (FAP) due to various transthyretin (TTR) mutations. METHODS ESC… read more here.
Keywords: value electrochemical; electrochemical skin; 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
Clinical and pathological findings in familial amyloid polyneuropathy caused by a transthyretin E61K mutation
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2017.08.017
Abstract: Familial amyloid polyneuropathy (FAP) is an autosomal dominant hereditary systemic amyloidosis caused by mutation of the transthyretin (TTR) gene, and usually shows sensory-dominant polyneuropathy and autonomic neuropathy at the initial stage. The pathogenesis of this… read more here.
Keywords: e61k mutation; amyloid polyneuropathy; ttr; familial amyloid ... See more keywords
Pitfalls of cubital electrical nerve stimulation for neuromuscular transmission monitoring: a case report of familial amyloid polyneuropathy.
Sign Up to like & getrecommendations! Published in 2021 at "Revista espanola de anestesiologia y reanimacion"
DOI: 10.1016/j.redar.2021.01.008
Abstract: Transthyretin familial amyloid polyneuropathy (FAP) is a rare autosomal dominant disease that provokes systemic deposition of amyloid. It affects the nervous system and it is characterized by progressive sensory, motor, and autonomic neuropathy. Patients with… read more here.
Keywords: amyloid polyneuropathy; familial amyloid; case; monitoring ... See more keywords
Extremely Early Onset Transthyretin Familial Amyloid Polyneuropathy with a Leu55Pro Mutation: A Pediatric Case Report and Literature Review.
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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
Transthyretin Amyloidosis Presenting With Upper-Extremity Neuropathy and Paucity of Autonomic Impairment.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Neuromuscular Disease"
DOI: 10.1097/cnd.0000000000000238
Abstract: We report a 73-year-old man with Val142Ile transthyretin (TTR) amyloidosis and an atypical clinical presentation of upper-extremity-predominant neuropathy without significant autonomic or cardiac involvement. TTR familial amyloid polyneuropathy commonly presents as length-dependent sensorimotor polyneuropathy with… read more here.
Keywords: extremity neuropathy; familial amyloid; upper extremity; transthyretin ... See more keywords
A low amyloidogenic E61K transthyretin mutation may cause familial amyloid polyneuropathy
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Neurochemistry"
DOI: 10.1111/jnc.15162
Abstract: Patients with transthyretin (TTR)‐type familial amyloid polyneuropathy (FAP) typically exhibit sensory dominant polyneuropathy and autonomic neuropathy. However, the molecular pathogenesis of the neuropathy remains unclear. In this study, we characterize the features of FAP TTR… read more here.
Keywords: microscopy; amyloid polyneuropathy; ttr; familial amyloid ... See more keywords
Vagus nerve ultrasound in transthyretin familial amyloid polyneuropathy: A pilot study
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Neuroimaging"
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