Abstract
A 66 year old man presents with a two year history of gradually progressive lower limb weakness. The presentation was preceded by symptoms compatible with bilateral carpal tunnel syndrome. Four years before the development of neurological symptoms he had a permanent pacemaker inserted. Amyloid deposits were detected on sural nerve biopsy. A mutation in the transthyretin gene (Val30Met) confirms the diagnosis of Familial amyloid polyneuropathy.
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References
Murphy SM, Reilly MM. Amyloid neuropathies. Advances Clin Neurosci Rehabil. 2011;11(1):16–9.
Planté-Bordeneuve V, Said G. Familial amyloid polyneuropathy. Lancet Neurol. 2011;10(12):1086–97.
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Mahdi-Rogers, M., Laurá, M., Reilly, M.M. (2017). A Man with a Pacemaker Develops Difficulty Walking. In: Manji, H., Turner, C., Evans, M. (eds) Neuromuscular Disease . Springer, London. https://doi.org/10.1007/978-1-4471-2389-7_14
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DOI: https://doi.org/10.1007/978-1-4471-2389-7_14
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