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. 2018 Sep;265(9):2015-2022.
doi: 10.1007/s00415-018-8946-0. Epub 2018 Jun 27.

Autonomic function testing in Friedreich's ataxia

Elisabetta Indelicato  1 , Alessandra Fanciulli  1 , Jean-Pierre Ndayisaba  1 , Wolfgang Nachbauer  1 , Andreas Eigentler  1 , Roberta Granata  1 , Julia Wanschitz  1 , Werner Poewe  1 , Gregor K Wenning  1 , Sylvia Boesch  2
Affiliations

Autonomic function testing in Friedreich's ataxia

Elisabetta Indelicato et al. J Neurol. 2018 Sep.

Abstract

Background: Friedreich ataxia (FRDA) is an inherited movement disorder which manifests with progressive gait instability, sensory loss and cardiomyopathy. Peripheral neuropathy is an established feature of FRDA. At neuropathological examination, a depletion of large, myelinated axons is evident, but also unmyelinated fibers are affected which may result in a variety of sensory and autonomic signs and symptoms. Impaired temperature perception, vasomotor disturbances of lower extremities and a high prevalence of urinary symptoms have been documented in FRDA, but data from autonomic function testing in genetically confirmed cases are lacking.

Methods: Genetically confirmed FRDAs were recruited in an outpatient setting. In a screening visit, general and neurological examination, laboratory testing, ECG and echocardiography were performed. Autonomic functions were evaluated by means of systematic questionnaires (SCOPA-Aut, OHQ), skin sympathetic reflex and cardiovascular autonomic function testing (CAFT). For the latter, a comparison with matched healthy controls was performed.

Results: 20 patients were recruited and 13 underwent CAFT. Symptoms referred to multiple autonomic domains, particularly bladder function, thermoregulation and sweating were reported. SCOPA-Aut scores were significantly predicted by disease severity. At CAFT, FRDAs did not differ from controls except for increased heart rate at rest and during orthostatic challenge. Two patients had non-neurogenic orthostatic hypotension (14%). Skin sympathetic responses were pathologic in 3 out of 10 patients (of whom 2 aged > 50).

Conclusions: FRDA patients may experience several autonomic symptoms and overall their burden correlates with disease severity. Nonetheless, clinical testing shows no major involvement of sudomotor and cardiovascular autonomic function.

Keywords: Autonomic questionnaires; Cardiovascular autonomic function testing; Friedreich’s ataxia; Peripheral neuropathy; SCOPA-Aut.

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Conflict of interest statement

The authors declare no conflict of interest related to the present paper.

Figures

Fig. 1
Fig. 1
Heart rate and blood pressure changes during the four phases of Valsalva maneuver (recording from our autonomic laboratory)
Fig. 2
Fig. 2
Correlation analysis between SCOPA-Aut scores and (1) SARA scores on the right, (2) ADL scores on the left
See this image and copyright information in PMC

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