Transthyretin familial amyloid polyneuropathy (TTR‐FAP): Parameters for early diagnosis
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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
Clinical improvement after change of therapy from tafamidis to patisiran in progressive TTR amyloidosis post-liver transplantation
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DOI: 10.1007/s00415-022-10978-3
Abstract: Hereditary amyloidosis with autosomal-dominant mutations in the transthyretin-gene (TTR) represents a severe multisystem disorder. Treatment options are now available for TTR familial amyloid polyneuropathy (TTR-FAP): patisiran [1], inotersen [2], tafamidis [3] and orthotopic liver transplantation… read more here.
Keywords: therapy; tafamidis; ttr; amyloidosis ... 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
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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
Epidemiology of Transthyretin Familial Amyloid Polyneuropathy in Portugal: A Nationwide Study
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DOI: 10.1159/000490553
Abstract: Background: Transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) is a rare, hereditary, progressive and neurodegenerative disease. We aimed to study TTR-FAP epidemiology in Portugal. Methods: National, observational, prospective and retrospective, case identification of adults with TTR-FAP. Countrywide… read more here.
Keywords: epidemiology; amyloid polyneuropathy; ttr fap; familial amyloid ... See more keywords
Sural nerve injury in familial amyloid polyneuropathy
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DOI: 10.1212/wnl.0000000000004178
Abstract: Objective: To detect and quantify lesions of the small-caliber sural nerve (SN) in symptomatic and asymptomatic transthyretin familial amyloid polyneuropathy (TTR-FAP) by high-resolution magnetic resonance neurography (MRN) in correlation with electrophysiologic and histopathologic findings. Methods:… read more here.
Keywords: mutttr carriers; amyloid; ttr fap; sural nerve ... 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