An aggressive familial amyloidotic polyneuropathy caused by a new variant transthyretin Lys 54.
Histologic examination of sural nerve of a 32-year-old man with an aggressive polyneuropathy associated with autonomic failure demonstrated amyloid deposition, and familial amyloidotic polyneuropathy (FAP) was diagnosed. Immunohistochemical staining showed transthyretin (TTR) staining of the amyloid deposits in nerve. Sequencing revealed G to A transition in the codon 54 causing TTR Lys 54. This is a new variant TTR associated with aggressive FAP.
Togashi
S
S
Third Department of Internal Medicine, Yamanashi Medical University, Tamaho, Japan.
Watanabe
H
H
Nagasaka
T
T
Shindo
K
K
Shiozawa
Z
Z
Maeda
S
S
Tawata
M
M
Onaya
T
T
D000328:Adult; D017668:Age of Onset; D017772:Amyloid Neuropathies / Q000235:genetics* / Q000473:pathology; D002874:Chromosome Mapping; D018698:Glutamic Acid; D006801:Humans; D007150:Immunohistochemistry; D007564:Japan; D008239:Lysine; D008297:Male; D016133:Polymerase Chain Reaction; D011228:Prealbumin / Q000235:genetics; D013497:Sural Nerve / Q000473:pathology
D011228:Prealbumin; D018698:Glutamic Acid; D008239:Lysine