Parkinson’s disease (PD) is the one of most widespread neurodegenerative pathologies. Because of the impossibility of studying the endogenous processes that occur in the brain of patients with PD in the presymptomatic stage, the mechanisms that trigger the disease remain unknown. Thus, the identification of the processes that play an important role in the early stages of the disease in these patients is extremely difficult. In this context, we performed a whole-transcriptome analysis of the peripheral blood of untreated patients with stage 1 PD (Hoehn-Yahr scale). We demonstrated a significant change in the levels of transcripts included in the large groups of processes associated with the functioning of the immune system and cellular transport. Moreover, a significant change in the splicing of genes involved in cellular-transport processes was shown in our study.

Parkinson’s disease is one of the most common human neurodegenerative disorders caused by the loss of dopaminergic neurons from the substantia nigra pars compacta of human brain. However, causes and mechanisms of the progression of the disease are not yet fully clarified. To date, investigation of the role of miRNAs in norm and pathology is one of the most intriguing and actively developing areas in molecular biology. MiRNAs regulate expression of a variety of genes and can be implicated in pathogenesis of various diseases. Possible role of miRNAs in pathogenesis of Parkinson’s disease is discussed in this review.

Hereditary torsion dystonia represent a clinically and genetically heterogeneous group of movement disorders. The most severe and frequent form of hereditary torsion dystonia is early‐onset generalized dystonia, DYT1. The DYT1 gene (Ozelius et al., 1997) encodes an ATP‐binding protein torsin A. A unique 3‐bp deletion (GAG) was found in the heterozygous state in almost all patients with early‐onset dystonia from different populations. We observed 39 patients with early‐onset generalized torsion dystonia belonging to 22 families from Russia. Seven families were of Ashkenazi Jewish (AJ) ethnic background, and other patients originated from the Slavonic population of Russia. The GAG deletion was identified in 24 affected persons from 15 families (68.2% of the families studied). In all the 7 families of AJ origin the disease was found to be caused by the deletion. In Slavs, the deletion was identified in 8 of 15 families (53%). In two deletion‐positive families we observed the co‐occurrence of typical early‐onset generalized dystonia and atypical phenotypes‐either isolated postural hand tremor or stutter. Hum Mutat 14:269, 1999.