Amyloidogenic transthyretin Val30Met homozygote showing unusually early-onset familial amyloid polyneuropathy.
We report an amyloidogenic transthyretin (ATTR) Val30Met homozygote showing extremely early-onset, severe familial amyloid polyneuropathy (FAP). Although homozygotes have been reported to show late-onset and mild clinical manifestations, detailed analyses of the present and previously reported families suggest that homozygotes have a slightly more severe clinical course than heterozygotes. This is the youngest reported patient with ATTR Val30Met FAP, a condition believed to be attributable to homozygosity of this mutation. The clinical severity is consistent with TTR protein instability.
Tojo
Kana
K
Department of Neurology and Rheumatology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan.
Sekijima
Yoshiki
Y
Machida
Kazuko
K
Tsuchiya
Ayako
A
Yazaki
Masahide
M
Ikeda
Shu-Ichi
S
D000328:Adult; D019943:Amino Acid Substitution; D000682:Amyloid / Q000737:chemistry / Q000235:genetics*; D028227:Amyloid Neuropathies, Familial / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005260:Female; D018628:Gene Dosage; D006720:Homozygote; D006801:Humans; D047468:Immunoprecipitation; D008297:Male; D013058:Mass Spectrometry; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011228:Prealbumin / Q000737:chemistry / Q000235:genetics*
D000682:Amyloid; D011228:Prealbumin; D004247:DNA