ABSTRACT
BACKGROUND: Parkinson's disease (PD) has been related to mutations associated with spinocerebellar ataxias (SCA); the frequency of the diagnosis of these mutations is low in general late-onset PD cases. Our aim was to investigate a selected high-risk group of PD patients. METHODS: PD patients with autosomal dominant inheritance or atypical neurological manifestations were enrolled, underwent a full neurological examination and had the CAG tracts of their SCA1, 2, 3, 6 and 7 genes analyzed. RESULTS: Of the 23 studied families, two SCA3 and one SCA2 cases were identified. All had autosomal dominant inheritance. In the SCA2 pedigree, four affected sibs had a homogeneous PD phenotype. CAG repeats varied between 35 and 44 with CAA interruptions. Intrafamilial phenotypic heterogeneity was identified in the SCA3 pedigrees; parkinsonian and ataxic phenotypes coexisted in both kindreds. CAGn varied between 69 and 71 repeats. Age of onset was lower in the SCA3 patients than in the remaining 24 cases (38 versus 46.7+/-12 years of age, p=0.003). CONCLUSIONS: SCA2 and SCA3 mutations were detected in 13% of the present sample: the strategy of selecting a high-risk group increased the rate of making these diagnoses. The SCA2 cases confirmed an association between PD and interrupted expansions, as well as PD intrafamilial phenotypic homogeneity. Clinical heterogeneity of SCA3 pedigrees suggests that disease-modifying agents outside the MJD1 gene may play a role in determining PD symptoms in this disorder.
Subject(s)
DNA Repeat Expansion , Family , Genetic Variation , Nerve Tissue Proteins/genetics , Parkinson Disease/genetics , Adult , Age of Onset , Antiparkinson Agents/therapeutic use , Ataxin-3 , Ataxins , Female , Genes, Dominant , Humans , Levodopa/therapeutic use , Machado-Joseph Disease/genetics , Male , Middle Aged , Nuclear Proteins/genetics , Parkinson Disease/drug therapy , Parkinson Disease/physiopathology , Pedigree , Phenotype , Repressor Proteins/genetics , Spinocerebellar Degenerations/geneticsABSTRACT
The purpose of this clinic-based study was the assessment of symptoms of depression, anxiety, and non-specific psychiatric disorders amongst patients with migraine, compared with healthy subjects and with individuals with a non-neurological chronic disease. A cross-sectional study was carried out in which 178 individuals (migraine 51; psoriasis 35; healthy 92) were submitted to three scales: MADRS (depression), STAI-T (anxiety) and SRQ (screening for mental disorders). The subjects with migraine and psoriasis were from the Out-patient Clinics of Headache and of Dermatology, and the healthy volunteers were persons who were accompanying out-patients in the same hospital. Scores were analysed by manova and by association analysis and logistic regression. Scores of all instruments were higher in the migrainous group, but the univariate analysis of association (using cut-offs) showed significance only for suspicion of mental disorders (SRQ). By logistic regression, variables with strongest association to migraine were gender, education, and SRQ in decreasing order.
Subject(s)
Mental Disorders/diagnosis , Mental Disorders/epidemiology , Migraine Disorders/diagnosis , Migraine Disorders/epidemiology , Risk Assessment/methods , Adult , Age Factors , Anxiety/diagnosis , Anxiety/epidemiology , Anxiety/psychology , Brazil/epidemiology , Cross-Sectional Studies , Depression/diagnosis , Depression/epidemiology , Depression/psychology , Educational Status , Female , Health Surveys , Humans , Male , Mass Screening , Mental Disorders/psychology , Migraine Disorders/psychology , Psoriasis/diagnosis , Psoriasis/epidemiology , Psoriasis/psychology , Risk Factors , Self-Assessment , Sex FactorsABSTRACT
OBJECTIVE: To assess the prevalence of prenatal exposure to cocaine in a sample of newborns using two methods: fluorescence polarization immunoassay and interview with the mother. METHODS: This cross-sectional study was carried out in a university teaching hospital. The population included all live births between March 23, 1999 and June 01, 1999 (n=847). Exposure was determined by a benzoylecgonine-positive meconium specimen and/or by a positive interview with the mother. RESULTS: The prevalence of prenatal exposure to cocaine in this sample was 2.4% (16 cases) according to the interviews, and 3.4% (25 cases) according to the meconium analysis. A rate of 4.6% (34 cases) was found when both methods were associated. CONCLUSIONS: We observed that the meconium test was more effective than the maternal interview for the diagnosis of prenatal exposure to cocaine. The meconium analysis enhanced diagnostic chances by 53.4%, compared to 26% in the case of maternal interview.
