NEUROPHYSIOLOGICAL EVALUATION OF SEXUAL DYSFUNCTION IN FAMILIAL AMYLOIDOTIC POLYNEUROPATHY - PORTUGUESE TYPE

Familial amyloidotic polyneuropathy (FAP) - Portuguese type, is an aut osomal dominant polyneuropathy related with an abnormal transthyrretin (TTR Met 30). In males, the first complaint can be sexual dysfunction . Fifteen FAP patients, mean age 37 +/- 7.7 years, mean disease durati on 5.2 +/- 2.2 years, all males, complaining of sexual dysfunction wer e studied with pudendal evoked potentials (PEP), bulbocavernous reflex (BCR) and sympathetic skin response (SSR). PEP and BCR reflect the ce ntral somatosensory pathways and sacral arch functioning; SSR relates with autonomic pathways. The aims of this study were: to correlate cli nical and EMG scores with somatic and autonomic fibres involvement; to evaluate the timing of somatic and autonomic nerves lesion in disease evolution. Results showed: that PEP and BCR abnormalities have a stat istically significant correlation with clinical and EMG scores; abnorm al SSR in the plant precede other clinical or EMG abnormalities in the present study.