[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.
López Domínguez
J M
JM
Sección de Neurología, Hospital General Juan Ramón Jiménez, Huelva.
Casado Chocán
J L
JL
Blanco Ollero
A
A
Robledo Strauss
A
A
Viader Farré
C
C
Díaz Espejo
C
C
D000328:Adult; D000368:Aged; D017772:Amyloid Neuropathies / Q000175:diagnosis* / Q000235:genetics*; D000911:Antibodies, Monoclonal; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011228:Prealbumin / Q000235:genetics
D000911:Antibodies, Monoclonal; D011228:Prealbumin
Utilidad del anticuerpo monoclonal FD-6 para el diagnóstico y la detección de portadores en la polineuropatía amiloidótica familiar tipo I.