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.
Department of Neurology and Rheumatology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan.
Kana
K
Tojo
Yoshiki
Y
Sekijima
Kazuko
K
Machida
Ayako
A
Tsuchiya
Masahide
M
Yazaki
Shu-Ichi
S
Ikeda
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