Neurophysiological evaluation of sexual dysfunction in familial amyloidotic polyneuropathy--Portuguese type

Acta Neurol Scand. 1997 Sep;96(3):163-6. doi: 10.1111/j.1600-0404.1997.tb00260.x.

Abstract

Familial amyloidotic polyneuropathy (FAP)--Portuguese type, is an autosomal 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 duration 5.2 +/- 2.2 years, all males, complaining of sexual dysfunction were studied with pudendal evoked potentials (PEP), bulbocavernous reflex (BCR) and sympathetic skin response (SSR). PEP and BCR reflect the central somatosensory pathways and sacral arch functioning; SSR relates with autonomic pathways. The aims of this study were: to correlate clinical 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 statistically significant correlation with clinical and EMG scores; abnormal SSR in the plant precede other clinical or EMG abnormalities in the present study.

MeSH terms

  • Adult
  • Amyloid Neuropathies / diagnosis
  • Amyloid Neuropathies / genetics
  • Amyloid Neuropathies / physiopathology*
  • Autonomic Nervous System / physiopathology
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Electromyography
  • Erectile Dysfunction / genetics
  • Erectile Dysfunction / physiopathology
  • Genes, Dominant / genetics
  • Humans
  • Male
  • Middle Aged
  • Neurologic Examination
  • Reaction Time / physiology
  • Reflex, Abnormal / physiology
  • Sexual Dysfunctions, Psychological / diagnosis
  • Sexual Dysfunctions, Psychological / genetics
  • Sexual Dysfunctions, Psychological / physiopathology*
  • Somatosensory Cortex / physiopathology
  • Spinal Cord / physiopathology
  • Sympathetic Nervous System / physiopathology