Publications by authors named "Vanessa L Torman"
Onset of Machado-Joseph disease (SCA3/MJD) before adolescence has been rarely reported. This study aims to describe a cohort of SCA3/MJD with onset before 12 years of age, comparing their disease progression with the progression observed in patients with usual disease onset. We identified all cases from our cohort whose onset was before adolescence.
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- The study investigates serum cytokine levels in both symptomatic and asymptomatic carriers of Machado Joseph disease, analyzing a wide range of cytokines in confirmed cases and controls.
- A total of 66 symptomatic carriers, 13 asymptomatic carriers, and 43 controls were examined, with specific attention given to the cytokine eotaxin, which was found to be significantly elevated in asymptomatic carriers compared to both symptomatic carriers and controls.
- Results showed no significant differences in cytokine patterns between controls and carriers overall, but eotaxin levels decreased among symptomatic carriers over a 360-day period, suggesting that serum cytokines may exhibit a benign pattern in SCA3/MJD patients.
Background: Although aspiration is one of the main causes of death in SCA, such as SCA3/Machado Joseph disease (SCA3/MJD), clinical studies on dysphagia are lacking for these diseases. The aims of this study were to characterize dysphagia in SCA3/MJD through videofluoroscopy (VF) of swallowing, correlate VF with disease severity criteria and weight loss, and determine the clinical criteria cutoffs for performing VF in the clinical routine, in order to detect aspiration.
Methods: A cross-sectional study on 34 SCA3/MJD patients was performed.
X-linked adrenoleukodystrophy heterozygote women can present adult onset myeloneuropathy and little is known about its natural history. We aimed to describe the progression rate of the neurological impairment in the prospective follow-up of our cohort and to look for prognostic factors. The neurological scales Japanese Orthopaedic Association (JOA) and Severity Score System for Progressive Myelopathy (SSPROM) were applied at baseline in 29 symptomatic carriers and in follow-up visits.
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