Results 1 to 10 of about 319,403 (201)
Arquivos de Neuro-Psiquiatria, 2021 Background: Hereditary transthyretin-mediated (hATTR) amyloidosis with polyneuropathy is a rare, inherited, multisystem, and often fatal disease caused by a variant in transthyretin (TTR) gene.
Vanessa Cristina Cunha Sequeira +6 more
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Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy [PDF]
Neurology Genetics, 2015 Macroglossia is a well-known feature of amyloidosis; however, tongue atrophy and fasciculations are rarely seen and can lead to the misdiagnosis of amyotrophic lateral sclerosis (ALS).We identified 2 unrelated patients with atypical features of tongue atrophy and fasciculations in the setting of a severe neuropathy.Both patients were confirmed to have ...
Goyal, Namita A., Mozaffar, Tahseen
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Amyloid Proteins and Peripheral Neuropathy
Cells, 2020 Painful peripheral neuropathy affects millions of people worldwide. Peripheral neuropathy develops in patients with various diseases, including rare familial or acquired amyloid polyneuropathies, as well as some common diseases, including type 2 diabetes
Mohammed M. H. Albariqi +3 more
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Pharmacological treatment for familial amyloid neuropathy [PDF]
Cochrane Database of Systematic Reviews, 2016 This is a protocol for a Cochrane Review (Intervention). The objectives are as follows: To assess and compare the efficacy, acceptability, and tolerability of pharmacologic disease-modifying agents for familial amyloid neuropathy (FAP).
Magrinelli, Francesca +6 more
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Arquivos de Neuro-Psiquiatria, 2023 Hereditary transthyretin amyloidosis with peripheral neuropathy (ATTRv-PN) is an autosomal dominant inherited sensorimotor and autonomic polyneuropathy with over 130 pathogenic variants identified in the TTR gene.
Marcus Vinicius Pinto +17 more
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Novel Transthyretin Gene Mutation in Familial Amyloid Neuropathy in India
Annals of African Medicine, 2022 Familial amyloid polyneuropathy (PN), also known as amyloid transthyretin (TTR)-PN is an autosomal dominant adult-onset fatal disease, if not treated. It occurs due to mutations in (TTR) gene which leads to a faulty TTR protein which folds up to form amyloid and gets deposited mainly on nerves and causes length-dependent PN ...
Rohatgi, Shalesh +10 more
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Frontiers in Neurology, 2021 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
Kang Du +8 more
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Orphanet Journal of Rare Diseases, 2021 Background Hereditary transthyretin-mediated amyloidosis, also known as ATTRv amyloidosis (v for variant), is a rare, autosomal dominant, fatal disease, in which systemic amyloid progressively impairs multiple organs, leading to disability and death. The
David Adams +5 more
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Portuguese-type amyloid neuropathy in an English family [PDF]
Postgraduate Medical Journal, 1980 Abstract A 31-year-old woman thought to be suffering from a psychiatric illness was found to have peripheral and autonomic neuropathy, keratoconjunctivitis sicca and vitreous opacities. Her mother had died 10 years previously, aged 42 years from an undiagnosed illness with similar features.
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Renal tubular acidosis in hereditary transthyretin amyloidosis (ATTRv) [PDF]
Brazilian Journal of NephrologyIntroduction: Hereditary transthyretin amyloidosis (ATTRv) is a severe autosomal dominant systemic disease. It affects the peripheral and autonomic nervous systems, heart, kidneys, and eyes.
Priscilla Cardim Fernandes +3 more
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