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Related Experiment Videos

Autonomic function testing in Friedreich's ataxia.

Elisabetta Indelicato1, Alessandra Fanciulli1, Jean-Pierre Ndayisaba1

  • 1Department of Neurology, Innsbruck Medical University, Anichstrasse 35, 6020, Innsbruck, Austria.

Journal of Neurology
|June 29, 2018
PubMed
Summary
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Friedreich ataxia (FRDA) patients report autonomic symptoms, especially bladder issues. While autonomic function testing shows minimal cardiovascular and sudomotor involvement, symptoms correlate with disease severity.

Area of Science:

  • Neurology
  • Genetics
  • Autonomic Neuroscience

Background:

  • Friedreich ataxia (FRDA) is an inherited movement disorder characterized by progressive gait instability, sensory loss, and cardiomyopathy.
  • Peripheral neuropathy, including unmyelinated fiber involvement, is a known feature of FRDA, potentially causing sensory and autonomic dysfunction.
  • Previous studies documented sensory and urinary symptoms in FRDA, but lacked comprehensive autonomic function testing in genetically confirmed cases.

Purpose of the Study:

  • To investigate autonomic nervous system function in genetically confirmed Friedreich ataxia (FRDA) patients.
  • To evaluate autonomic symptoms using questionnaires and objective testing, comparing FRDA patients to healthy controls.

Main Methods:

  • Genetically confirmed FRDA patients underwent neurological examination, laboratory tests, ECG, and echocardiography.
Keywords:
Autonomic questionnairesCardiovascular autonomic function testingFriedreich’s ataxiaPeripheral neuropathySCOPA-Aut

Related Experiment Videos

  • Autonomic function was assessed via SCOPA-Aut, OHQ questionnaires, skin sympathetic reflex testing, and cardiovascular autonomic function testing (CAFT).
  • CAFT results were compared with those of matched healthy controls.

    • Main Results:

    • Twenty FRDA patients were recruited; 13 completed CAFT. Patients reported symptoms affecting bladder function, thermoregulation, and sweating, with symptom burden correlating with disease severity.
    • FRDA patients showed no significant differences from controls in CAFT, except for increased resting and orthostatic heart rate.
    • Two patients (14%) experienced non-neurogenic orthostatic hypotension, and 30% had abnormal skin sympathetic responses.

    Conclusions:

    • Autonomic symptoms are common in FRDA patients and their severity correlates with disease progression.
    • Despite reported symptoms, objective clinical testing revealed no major impairment in sudomotor or cardiovascular autonomic function in FRDA.
    • Further research is needed to fully understand the spectrum of autonomic dysfunction in Friedreich ataxia.