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
Pharmacological studies of the pupils in familial amyloid polyneuropathy
β Scribed by Dr. Toru Okajima; Jinro Nagata; Kazuko Hatamoto; Yoshimi Kinoshita; Yoshio Takaba; Haruhiko Tokuomi
- Publisher
- John Wiley and Sons
- Year
- 1978
- Tongue
- English
- Weight
- 450 KB
- Volume
- 4
- Category
- Article
- ISSN
- 0364-5134
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More than 40 point mutations (producing different clinical manifestations) have been described in diverse points of the plasma protein transthyretin (TTR). The Met30 is considered the most common mutation, the Tyr77 mutation being the second most prevalent. However, data from patients with this late
## Abstract A pharmacological study was performed in the involved pupils to demonstrate the site of lesion in a patient with Fisher's syndrome who showed marked ptosis, complete external ophthalmoplegia, pupillary involvement with anisocoria, facial paresis, ataxia, areflexia, and albuminocytologic