JOURNAL OF MEDICAL

mutation.Giessen, GermanyFull list of author information is available at the end of the articlefibers. Familial amyloidoses are rare diseases, especially in nonendemic areas, and are divided into three subtypes that present with different involvement of the peripheral nervous system: transthyretin (TTR), apolipoprotein A-I and gelsolin. TTR-associated familial amyloid polyneurop-athy (TTR-FAP) is the most common type, in which amyl-oid depositions in peripheral nerves lead to a progressive sensorimotor and autonomic neuropathy. TTR-FAPs are Val50Met (p.Val30Met) being the most common one. The clinical manifestation can be very heterogeneous; thus, the diagnosis is difficult and might be delayed, especially if the patient is young and the family history negative [1-7]. Early diagnosis is important because treatment options are available. In this report, we describe the clinical, elec-trophysiological, histopathological and genetic findings in a Turkish woman with a rapidly progressive type of TTR-FAP. To the best of our knowledge, this report is the first in the literature describing a patient who presented exclu-sively with severe neuropathy as a symptom of the rare * Correspondence