Early-onset Parkinson's disease (EOPD) is distinct from the classic late-onset PD (LOPD) because of its slower disease progression. The aim of this study was to compare dopamine neuronal loss in EOPD with that of LOPD with the same disease duration, through dopamine transporter (DAT) estimation. Fourteen patients, seven EOPD (<50 years) and seven LOPD, matched for disease duration were scanned with [(99m)Tc]-TRODAT-1-SPECT (INER-Taiwan), and were assessed with standard PD scales. EOPD patients had 34% lower striatal DAT binding potential (BP) compared with that of LOPD patients (BP = 0.29 +/- 0.12, BP = 0.44 +/- 0.12, P < 0.02) with similar PD severity. These results suggest that EOPD patients have greater dopamine density loss than LOPD patients without motor-symptom worsening.
Our results suggest that in vivo DAT density is increased in dPD patients as compared to ndPD, suggesting that DAT is implicated in the pathophysiology of PD depression.
Patients with essential tremor, psychogenic Parkinsonism or drug-induced Parkinsonism can be differentiated from PD in doubtful situations using molecular imaging techniques evaluating striatal dopamine transporters (DAT). However, in patients with vascular Parkinsonism, atypical Parkinsonism and Parkinsonism associated with dementia DAT scans have less diagnostic usefulness. Scans with non-DAT tracers (ie, D2 dopamine receptors) are necessary together with long-term clinical follow-up, and rescans to improve diagnostic accuracy.
The TOR1A and THAP1 genes were screened for mutations in a cohort of 21 Brazilian patients with Primary torsion dystonia (PTD). We identified a de novo delGAG mutation in the TOR1A gene in a patient with a typical DYT1 phenotype and a novel c.1A > G (p.Met1?) mutation in THAP1 in a patient with early onset generalized dystonia with speech involvement. Mutations in these two known PTD genes, TOR1A and THAP1, are responsible for about 10% of the PTD cases in our Brazilian cohort suggesting genetic heterogeneity and supporting the role of other genes in PTD.
BackgroundAlthough Parkinson’s disease is the second most prevalent neurodegenerative disease worldwide, its cost in Brazil – South America’s largest country – is unknown.ObjectiveThe goal of this study was to calculate the average annual cost of Parkinson’s disease in the city of São Paulo (Brazil), with a focus on disease-related motor symptoms.Subjects and methodsThis was a retrospective, cross-sectional analysis using a bottom-up approach (ie, from the society’s perspective). Patients (N=260) at two tertiary public health centers, who were residents of the São Paulo metropolitan area, completed standardized questionnaires regarding their disease-related expenses. We used simple and multiple generalized linear models to assess the correlations between total cost and patient-related, as well as disease-related variables.ResultsThe total average annual cost of Parkinson’s disease was estimated at US$5,853.50 per person, including US$3,172.00 in direct costs (medical and nonmedical) and US$2,681.50 in indirect costs. Costs were directly correlated with disease severity (including the degree of motor symptoms), patients’ age, and time since disease onset.ConclusionIn this study, we determined the cost of Parkinson’s disease in Brazil and observed that disease-related motor symptoms are a significant component of the costs incurred on the public health system, patients, and society in general.
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