1. Familial Oculo-Leptomeningeal Transthyretin Amyloidosis Caused by Leu55Arg Mutation
- Author
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Kleefeld, Felix, Knebel, Fabian, Eurich, Dennis, Schatka, Imke, Blüthner, Elisabeth, Schönfeld, Shideh, Amthauer, Holger, and Hahn, Katrin
- Abstract
Hereditary transthyretin amyloidosis (hATTR amyloidosis) is a multisystemic disease usually presenting in a mixed neurological and cardiological phenotype. We present a case of hATTR amyloidosis associated with Leu55Arg mutation causing a form of familial oculo-leptomeningeal amyloidosis. Two brothers and their mother presented with severe autonomic neuropathy, loss of visual acuity and lepto-meningeal involvement. One patient suffered subarachnoid hemorrhage as a possible complication of cerebral involvement. The patients suffered from treatment-refractory weight loss and recurring vitreous opacities. RNA interference-based treatment has led to stabilization of autonomic and peripheral neuropathy but has had no effect on ocular symptoms.
- Published
- 2020
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