Description of transthyretin S50A, S52P and G47A mutations in familial amyloidosis polyneuropathy.
OBJECTIVE
To describe 58 subjects with rare TTR mutations, and to compare the different biomarkers between carriers and patients.


METHODS
TTR gene sequence test was performed in 15 suspicious subjects and in their direct family. All positive subjects undertook prospective evaluations in a period of 49 months.


RESULTS
Of 95 genetic tests performed, 58 (61%) were positive for TTR mutations, Ser50Arg mutation in 38 (65%), Ser52Pro in 15 (26%) and Gly47Ala in 5 (9%). Initial symptoms were neuropathic in 19 (73%), gastrointestinal in 6 (23%) and autonomic in 1 (4%).


CONCLUSIONS
The natural history of Ser50Arg, Ser52Pro and Gly47Ala TTR mutations is similar to the Val30Met mutation described in endemic areas. The small fiber assessments were the initial tests to show abnormalities in asymptomatic subjects.
Department of Neurology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán , Tlalpan 14000 , México DF.
Alejandra
A
González-Duarte
Mónica
M
Lem-Carrillo
Karla
K
Cárdenas-Soto
D000328:Adult; D028227:Amyloid Neuropathies, Familial / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011228:Prealbumin / Q000235:genetics*
D011228:Prealbumin