Skin amyloid deposits and nerve fiber loss as markers of neuropathy onset and progression in hereditary transthyretin amyloidosis

• Published in: European journal of neurology Vol. 29; no. 5; pp. 1477 - 1487
• Main Authors: Leonardi, Luca, Adam, Clovis, Beaudonnet, Guillemette, Beauvais, Diane, Cauquil, Cécile, Not, Adeline, Morassi, Olivier, Benmalek, Anouar, Trassard, Olivier, Echaniz‐Laguna, Andoni, Adams, David, Labeyrie, Céline
• Format: Journal Article
• Language: English
• Published: England John Wiley & Sons, Inc 01.05.2022
• Subjects: amyloid deposition; Amyloid Neuropathies, Familial - complications; Amyloid Neuropathies, Familial - diagnosis; Amyloid Neuropathies, Familial - genetics; Amyloidosis; Ankle; Asymptomatic; Biomarkers; Biopsy; Deposits; hereditary transthyretin amyloidosis; Humans; Markers; Mutation; Nerve Fibers - pathology; Nerves; Neuropathy; Plaque, Amyloid; Point mutation; Polyneuropathy; Retrospective Studies; Skin; skin biopsy; small fiber loss; Transthyretin; hereditary transthyretin amyloidosis; amyloid deposition; biomarkers; small fiber loss; skin biopsy; polyneuropathy

Background and purpose This study was undertaken to assess skin biopsy as a marker of disease onset and severity in hereditary transthyretin amyloidosis with polyneuropathy (ATTRv‐PN), a treatable disease. Methods In this single center retrospective study, skin Congo red staining and intraepidermal...