A brief compound test for assessment of autonomic and sensory-motor dysfunction in familial amyloid polyneuropathy

J Neurol. 2007 Dec;254(12):1684-8. doi: 10.1007/s00415-007-0617-5. Epub 2007 Dec 14.


Background: Familial amyloid polyneuropathies (FAP) patients manifest progressive sensory-motor length dependent polyneuropathy and severe autonomic dysfunction. In this setting the autonomic manifestations include mainly postural hypotension, nausea and vomiting, diarrhea and constipation, sphincter distur- bances and erectile dysfunction. Reproducible quantitative evaluation of signs and symptoms are necessary for the assessment of treatment efficacy.

Objective: To determine the reliability of a new compound test cumulating evaluation of autonomic and sensorymotor dysfunction in FAP.

Methods: Compound Autonomic Dysfunction Test (CADT) is a new questionnaire to evaluate the main symptoms of autonomic dysfunction observed in FAP. A separate functional questionnaire assesses the disability due to the sensorymotor deficit (Modified Norris Test; MNT). The compound test takes approximately 10 minutes to perform. In this prospective study, we enrolled consecutively 60 FAP patients to test interexaminer reliability, i.e., both questionnaires rated independently by 2 examiners. We also evaluate the reliability of testing patients face to face and by phone call, by the same examiner.

Results: Interexaminer reliabilities tested were high (ICC=0.92 for the CADT, p < 0.001; and ICC = 0.99 for the MNT, p < 0.001). In addition, testing by phone as compared to testing during the initial medical visit by the same investigator gave similar results (ICC = 0.91 for the CADT, p < 0.001; and ICC = 0.98 for the MNT, p < 0.001).

Conclusion: In FAP, the CADT and the MNT have good reliability inter-investigators as well as between face to face and by phone call, by the same examiner. This newly designed compound test is a simple and reproducible scale which is adapted to evaluate the main neuropathic manifestations and will be useful for assessment of future treatments in this condition.

MeSH terms

  • Adult
  • Aged
  • Amyloid Neuropathies, Familial / complications*
  • Amyloid Neuropathies, Familial / genetics
  • Autoimmune Diseases / diagnosis*
  • Autoimmune Diseases / etiology*
  • Evaluation Studies as Topic
  • Female
  • Humans
  • Interviews as Topic
  • Male
  • Middle Aged
  • Motor Skills Disorders / diagnosis*
  • Motor Skills Disorders / etiology*
  • Prospective Studies
  • Quality of Life
  • Reproducibility of Results
  • Severity of Illness Index*
  • Surveys and Questionnaires