BS23. Dysautonomia in hereditary spastic paraplegia SPG4

Abstract

Introduction SPG4 gene mutations are the most common cause of hereditary spastic paraplegia (HSP-SPG4) and characterized by progressive weakness, spasticity and hyperreflexia in lower limbs. There are few studies about non-motor manifestations in this disease and none about the autonomic system involvement. The aim of this study was to determine the frequency and pattern of autonomic complaints in patients with HSP-SPG4, as well as the clinical relevance and the possible factors associated with these manifestations. Methods Clinical and electrophysiological evaluations were performed in 29 patients with HSP-SPG4 confirmed by molecular tests and 24 healthy controls. The Scales for Outcomes in Parkinson’s Disease: Autonomic Questionnaire (SCOPA-AUT) was applied to quantify the severity of autonomic symptoms. Electrophysiological tests included heart rate variability at rest, during Valsalva maneuver, deep breathing (E/I Ratio), the Spectral analyses of R-R intervals at rest as well as Sympathetic skin response (SCR) and Quantitative Sudomotor Axonal Response Test (QSART). The groups were compared with Mann Whitney and Chi-Square test, p values Results There were 14 men, with a mean age of 42.75 ± 14.4 years. The median SCOPA-AUT score was 13 ( p = 0.003). Urinary and thermoregulatory domains subscore were significant (13 vs 6 p = 0.003; 2 vs 0 p = 0.041 respectively). Mean RR interval at rest was different between patients and controls (790.6 ms vs 919.5 ms, p = 0.002). The Valsalva index and the E/I Heart Rate Deep Breath ratio were similar between the groups (p = 0.61 and p = 0.25). Spectral analysis presented distinct results in patients and controls, related to Low-frequency Power (p = 0.014). Absent SCR in the feet were more frequent among patients (64.29% vs 0%, p = 0.001). QSART response were also smaller in the HSP-SPG4 group at the forearm (0.44 μ L vs 1.13 p = 0.012) and the feet (0.26 vs 0.66 p = 0.01). Conclusion Sudomotor function is significantly compromised, but cardiovagal function remains essentially normal.