Hereditary amyloidosis with early and prominent peripheral nerve involvement is often designated familial amyloid polyneuropathy (FAP). The abnormality usually lies in the transthyretin (TTR) gene. We describe a patient with a tyr77 TTR gene mutation who presented with sensorimotor polyneuropathy bu
β¦ LIBER β¦
Variability of clinical expression in familial amyloid polyneuropathy
β Scribed by Teresa Coelho
- Book ID
- 116168709
- Publisher
- Elsevier Science
- Year
- 1996
- Tongue
- English
- Weight
- 76 KB
- Volume
- 6
- Category
- Article
- ISSN
- 0960-8966
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In 1975, Lessell et a1 ( I ) described "scalloping" of the pupils, a unique pupillary sign in 2 patients with aiutosomal dominant inherited familial amyloid pdyneuropathy (FAP). Although apparently pathognomonic, the sensitivity of this sign in a larger population of FAP patients is unknown. We ther