Article
Oculoleptomeningeal Amyloidosis associated with transthyretin Leu12Pro in an African patient.
Journal of neurology - 1 Jan 2015
McColgan P, Viegas S, Gandhi S, Bull K, Tudor R, Sheikh F, Pinney J, Fontana M, Rowczenio D, Gillmore J D, Gilbertson J A, Whelan C J, Shah S, Jaunmuktane Z, Holton J L, Schott J M, Werring D J, Hawkins P N, Reilly M M
Abstract excerpt
Oculoleptomeningeal amyloidosis is a rare manifestation of hereditary transthyretin (TTR) amyloidosis. Here, we present the first case of leptomeningeal amyloidosis associated with the TTR variant Leu12Pro mutation in an African patient. A 43-year-old right-handed Nigerian man was referred to our centre with rapidly progressive neurological decline. He presented initially with weight loss, confusion, fatigue, and...
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