[The use of FD-6 monoclonal antibody in diagnosing and detecting the carriers of familial amyloidotic polyneuropathy type I].

Familial amyloidotic polyneuropathy type I (FAF-I) is caused by a specific genetic mutation that gives rise to a transthyretin anomaly whose presence in serum constitutes the biochemical marker for this disease. We studied the serum of 7 patients and 16 asymptomatic members of their immediate families using ELISA with FD-6 monoclonal antibody to detect the transthyretin anomaly. Positive results were found for the 7 patients, including the 2 patients whose disease was apparently sporadic, and 12 carriers were detected among the family members. This technique makes sural nerve biopsy unnecessary for establishing a diagnosis in patients whose clinical signs are consistent with FAP-I. Asymptomatic carriers are also detected, facilitating appropriate genetic counseling.