DAT gene polymorphisms (rs28363170, rs393795) and levodopa-induced dyskinesias in Parkinson's disease.

L-dopa-induced dyskinesias (LID) is a common motor side effect of levodopa therapy of Parkinson's disease (PD). The identified predictors may only partially account for the risk of developing LID and genetic factors may contribute to this variability. The present study is aimed to investigate whether polymorphisms in the dopamine transporter gene (DAT) are associated with the risk of developing LID.

Genetic Architecture of MAPT Gene Region in Parkinson Disease Subtypes.

The microtubule-associated protein tau (MAPT) region has been conceptualized as a model of the interaction between genetics and functional disease outcomes in neurodegenerative disorders, such as Parkinson disease (PD). Indeed, haplotype-specific differences in expression and alternative splicing of MAPT transcripts affect cellular functions at different levels, increasing susceptibility to a range of neurodegenerative processes. In order to evaluate a possible link between MAPT variants, PD risk and PD motor phenotype, we analyzed the genetic architecture of MAPT in a cohort of PD patients.

Clinical subtypes in Parkinson's disease: the impact of MAPT haplotypes.

The H1 haplotype of the MAPT gene influences the risk of PD and has been related to the development of PDD. We evaluated the influence of MAPT haplotypes on the expression of motor features in PD patients. We genotyped, for the MAPT haplotypes H1 and H2, a sample of 181 PD patients with distinct clinical subtypes: tremor dominant and non-tremor dominant (NTD).

The validity and reliability of the Italian Olfactory Identification Test (IOIT) in healthy subjects and in Parkinson's disease patients.

Background: Olfactory function can be rapidly evaluated by means of standardized olfactory tests. Multiple-choice smell identification tests can be conditioned by cultural background. To investigate a new tool for detecting olfactory deficit in Italian subjects we developed a multiple-choice identification test prepared with odorants belonging to the Italian culture.

Aripiprazole in L-dopa-induced dyskinesias: a one-year open-label pilot study.

Aripiprazole is a novel antipsychotic medication characterized by partial agonism at the D2 and 5-HT1A receptors and by antagonism at the 5-HT2A receptor. The aim of the present study was to evaluate, in an open-label pilot study, the effects and safety of very small doses of aripiprazole on L-dopa-induced dyskinesia of a group of PD patients who did not show a significant clinical benefit by pharmacological treatment with amantadine and mirtazapine. Twelve PD patients with peak-dose LID were enrolled in a period of 1 year.

Genetic polymorphism of Angiotensin-Converting Enzyme is not associated with the development of Parkinson's disease and of L-dopa-induced adverse effects.

Sporadic Parkinson's disease (PD) is a frequent neurodegenerative movement disorder. Both environmental and genetic factors have been studied in the etiology of PD. Among genetic factors, increasing evidences suggest that deletion/insertion (D/I) gene polymorphism of the angiotensin I-converting enzyme (ACE) may be involved in the pathogenesis of PD and in the occurrence of the adverse effects of chronic L-dopa therapy.