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Leptomeningeal amyloidosis due to A25T TTR mutation: a case report

L Llull1, J Berenguer2, J Yagüe3

  • 1Servicio de Neurología, Hospital Clínic de Barcelona, Barcelona, España.

Neurologia (Barcelona, Spain)
|March 8, 2013
PubMed
Abstract

No abstract available in PubMed .

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Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
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