Factors associated with deterioration of health-related quality of life in multiple system atrophy: 1-year follow-up study.

The aim of this study was to identify the main contributors to the health-related quality of life (HRQoL) in multiple system atrophy with predominant parkinsonism (MSA-P) and to determine the usefulness of SF-36 in capturing the HRQoL changes over 1-year follow-up. A total of 45 MSA-P and 150 Parkinson's disease (PD) patients were studied. The hierarchical multiple regression analysis was conducted to identify predictors of the SF-36 total score. The magnitude of any change for the HRQoL over 1-year of follow-up, was calculated as an effect size. The average scores for each SF-36 domains, except for the bodily pain, were lower in MSA-P than in PD patients (p < 0.05). The most important predictors of HRQoL in MSA-P, were female gender, older age at onset, SCOPA-AUT score and UMSARS IV, which together with other selected clinical variables accounted for 84% of the variance in the total SF-36 score in the final model in hierarchical analyses. During the 1-year follow-up, the SF 36 was found capable of detecting changes in MSA-P. Our study provided some new insights into potential predictors of the HRQoL and its longitudinal changes in MSA-P, which should be considered when healthcare programs are developed.

Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients.

The relative frequencies of different spinocerebellar ataxias (SCAs) vary widely among different ethnic groups, presumably due to a founder effect. We investigated the relative prevalence of SCA1-3, 6-8, 12, 17; dentate-rubro-pallidoluysian atrophy; and Friedreich's ataxia (FRDA) in Serbian patients with adult-onset (>20 years of age) hereditary and sporadic SCAs, and compared clinical features of patients with genetically confirmed SCAs. A total of 108 patients from 54 families (38 apparently dominant [ADCA] and 16 apparently recessive) with adult-onset hereditary ataxia and 75 apparently sporadic patients were assessed. Of 38 families with ADCA, 13 (34%) were positive for an expansion in an SCA1 and 5 families (13%) for an expansion in an SCA2 allele. In 20 families (53%), no expansions have been identified in any of the analyzed genes. Gaze palsy, spasticity, and hyperreflexia were significantly more common in SCA1, whereas slow saccades, hypotonia, hyporeflexia, and dystonia prevailed in SCA2 patients. Among the 16 families with an apparently recessive mode of ataxia inheritance, 4 (25%) were identified as having the FRDA mutation. Ataxia-causing mutations were identified in 8 (10.6%) of patients with apparently sporadic adult-onset ataxia.