Familial amyloid polyneuropathy: report of a family.
Felice Giangaspero, Fabrizio Salvi, Claudio Ceccarelli, G. Ambrosetto, Edmondo Govoni, Carlo Alberto Tassinari
Abstract
Felice Giangaspero, Fabrizio Salvi, Claudio Ceccarelli, G. Ambrosetto, Edmondo Govoni, Carlo Alberto Tassinari
Abstract
We report an Italian family affected by familial amyloid polyneuropathy. In two siblings, the diagnosis was confirmed by skin biopsy which revealed an unusual involvement of cutaneous nerves. Immunohistochemical studies confirmed the presence of prealbumin in the amyloid deposits.
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We report an Italian family affected by familial amyloid polyneuropathy. In two siblings, the diagnosis was confirmed by skin biopsy which revealed an unusual involvement of cutaneous nerves. Immunohistochemical studies confirmed the presence of prealbumin in the amyloid deposits.
Key concepts: Amyloid polyneuropathy, Polyneuropathy, Transthyretin, Amyloid (mycology), Immunohistochemistry, Medicine, Pathology, Biopsy