Cardiovascular autonomic testing in the work-up of cerebellar ataxia: insight from an observational single center study

BACKGROUND: Cerebellar ataxias are a heterogeneous group of disorders of both genetic and non-genetic origin. In sporadic cases, two entities are recognized: multiple system atrophy of cerebellar type (MSA-C) and SAOA (sporadic adult-onset ataxia). The presence of severe cardiovascular autonomic failure reliably distinguishes MSA-C from other ataxias, but it may appear only late in the disease course. OBJECTIVE: To evaluate the diagnostic yield of cardiovascular autonomic function tests in the work-up of cerebellar ataxia. METHODS: We applied a cardiovascular autonomic tests battery in consecutive patients with neurodegenerative cerebellar ataxia and matched healthy controls. We recorded the presence of both orthostatic hypotension (OH) and blood pressure falls non-fulfilling the criteria of OH (non-OH BP). Sporadic cases were followed-up for an eventual conversion to MSA-C. RESULTS: Forty-two patients were recruited, 19 of whom with sporadic disease (2 probable MSA-C, 6 possible MSA-C, 11 SAOA). Sporadic and hereditary cases showed no difference concerning ataxia severity at baseline. At head-up tilt, non-OH BP falls were detected in nine patients, but not in controls. This finding was significantly more frequent in sporadic cases (p = 0.006) and was detected in five out of seven patients that during follow-up converted to possible/probable MSA-C. Findings at standing test were normal in four out of nine cases with non-OH BP falls at head-up tilt. CONCLUSIONS: A complete cardiovascular autonomic battery with head-up tilt can detect early signs of BP dysregulation which may be missed at bed-side tests, thus warranting its application in the first line work-up of cerebellar ataxias. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s00415-019-09684-4) contains supplementary material, which is available to authorized users.