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Keywords:

  • autonomic nervous system diseases;
  • heart rate;
  • heart rate variability;
  • parasympathetic;
  • spectral analysis;
  • spinocerebellar ataxias;
  • sympathetic;
  • trinucleotide repeats

Montes-Brown J, Machado A, Estévez M, Carricarte C, Velázquez-Pérez L. Autonomic dysfunction in presymptomatic spinocerebellar ataxia type-2. Acta Neurol Scand: 2012: 125: 24–29. © 2011 John Wiley & Sons A/S.

Objectives –  To explore and quantify possible abnormalities in the autonomic cardiovascular regulation in presymptomatic stage of type 2 spinocerebellar ataxia (PS-SCA2).

Materials & methods –  Heart rate variability (HRV) for 5-min series of RR intervals was analyzed in 48 PS-SCA2. Autonomic testing included resting recording, standing, Valsalva maneuver, and deep breathing. The results were compared with a group of sex- and age-matched controls.

Results –  Time-and-frequency domain HRV indices were significantly different between PS-SCA2 and control groups. Using two standard diagnostic procedures were identified 4 (8.33%) subjects with severe and 8 (16.66%) subjects with early cardiac autonomic neuropathy in PS-SCA2. CAG index significantly correlated with age (−0.35) and HR (0.31).

Conclusions –  Our results confirm the presence of cardiovascular autonomic dysfunction in PS-SCA2 subjects.