Giulia Giannini1, Giovanna Calandra-Buonaura1, Gian Maria Asioli1, Annagrazia Cecere1, Giorgio Barletta1, Francesco Mignani1, Stefano Ratti1, Pietro Guaraldi1, Federica Provini1, Pietro Cortelli2. 1. From the IRCCS Institute of Neurological Sciences of Bologna (G.G., G.C.-B, A.C., G.B., F.M., F.P., P.C.); Department of Biomedical and NeuroMotor Sciences (G.G., G.C.-B., G.M.A., G.B., S.R., F.P., P.C.), Alma Mater Studiorum-University of Bologna; and Neurology Outpatient Clinic (P.G.), Department of Primary Care, Local Health Authority of Modena, Italy. 2. From the IRCCS Institute of Neurological Sciences of Bologna (G.G., G.C.-B, A.C., G.B., F.M., F.P., P.C.); Department of Biomedical and NeuroMotor Sciences (G.G., G.C.-B., G.M.A., G.B., S.R., F.P., P.C.), Alma Mater Studiorum-University of Bologna; and Neurology Outpatient Clinic (P.G.), Department of Primary Care, Local Health Authority of Modena, Italy. pietro.cortelli@unibo.it.
Abstract
OBJECTIVE: To retrospectively describe clinical and instrumental features of a cohort of patients with at least a 5-year history of idiopathic autonomic failure (IAF) longitudinally evaluated at the Autonomic Unit of the University of Bologna (IAF-Bo cohort). METHODS: We identified patients with at least a 5-year history of IAF who were referred to our department from 1989 to 2016 and evaluated at least once a year during the disease course. Clinical and instrumental data were collected from medical records. Clinical variables were categorized as early if presenting within 3 years from disease onset. Predictors associated with conversion to other synucleinopathies were identified in a Cox regression analysis. RESULTS: The IAF-Bo cohort included 50 patients (39 male, 19 deceased at the last follow-up). At the last follow-up visit, 34 patients retained IAF phenotype (ncIAF group), while 16 developed a CNS synucleinopathy (converters group). Specific clinical and instrumental features were represented differently in the converters and ncIAF groups. The converters group showed a higher risk of death than the ncIAF group. Early onset of urinary dysfunction, early onset of REM sleep behavior disorder, and a Valsalva ratio ≥1.25 were identified as variables associated with phenoconversion. CONCLUSIONS: This is one of the largest studies on the natural history of a cohort of patients with at least a 5-year history of IAF, showing a percentage of phenoconversion of 32%. We demonstrated that specific clinical and instrumental features entail an increased probability of phenoconversion. These findings could contribute to a better definition of the nature of IAF and to the identification of early markers of phenoconversion.
OBJECTIVE: To retrospectively describe clinical and instrumental features of a cohort of patients with at least a 5-year history of idiopathic autonomic failure (IAF) longitudinally evaluated at the Autonomic Unit of the University of Bologna (IAF-Bo cohort). METHODS: We identified patients with at least a 5-year history of IAF who were referred to our department from 1989 to 2016 and evaluated at least once a year during the disease course. Clinical and instrumental data were collected from medical records. Clinical variables were categorized as early if presenting within 3 years from disease onset. Predictors associated with conversion to other synucleinopathies were identified in a Cox regression analysis. RESULTS: The IAF-Bo cohort included 50 patients (39 male, 19 deceased at the last follow-up). At the last follow-up visit, 34 patients retained IAF phenotype (ncIAF group), while 16 developed a CNS synucleinopathy (converters group). Specific clinical and instrumental features were represented differently in the converters and ncIAF groups. The converters group showed a higher risk of death than the ncIAF group. Early onset of urinary dysfunction, early onset of REM sleep behavior disorder, and a Valsalva ratio ≥1.25 were identified as variables associated with phenoconversion. CONCLUSIONS: This is one of the largest studies on the natural history of a cohort of patients with at least a 5-year history of IAF, showing a percentage of phenoconversion of 32%. We demonstrated that specific clinical and instrumental features entail an increased probability of phenoconversion. These findings could contribute to a better definition of the nature of IAF and to the identification of early markers of phenoconversion.
Authors: Elizabeth A Coon; Jay N Mandrekar; Sarah E Berini; Eduardo E Benarroch; Paola Sandroni; Phillip A Low; Wolfgang Singer Journal: Neurology Date: 2020-06-16 Impact factor: 11.800