Analysis of PARK2 gene exon rearrangements in Russian patients with sporadic Parkinson's disease.

Background: Deletions and duplications of single exons or exon groups account for a large proportion of the PARK2 gene mutations described in juvenile autosomal recessive Parkinson's disease (PD).

Methods: We analyzed rearrangements in exons 1 to 12 of the PARK2 gene in Russian sporadic patients with early-onset PD (EOPD) and late-onset PD (LOPD).

Results: The frequency of EOPD and LOPD patients carrying these mutations was 12.

Expression analysis of suppression of tumorigenicity 13 gene in patients with Parkinson's disease.

Parkinson's disease (PD) is the second most common progressive neurodegenerative disorder characterized by the degeneration of dopaminergic neurons. Detecting changes in gene expression in untreated de novo patients with PD is important for understanding disease pathogenesis and for identifying biomarkers for preclinical stage of PD. In this study we investigate ST13 gene expression in the peripheral blood of different groups of patients with neurological diseases using reverse transcription reaction and real-time polymerase chain reaction (PCR).

Carnosine [corrected] increases efficiency of DOPA therapy of Parkinson's disease: a pilot study.

The addition of the neuropeptide carnosine (beta-alanyl-L-histidine) as a food additive to the basic protocol of Parkinson's disease treatment results in significant improvement of neurological symptoms, along with increase in red blood cell Cu/Zn-SOD and decrease in blood plasma protein carbonyls and lipid hydroperoxides, with no noticeable change in platelets MAO B activity. The combination of carnosine with basic therapy may be a useful way to increase efficiency of PD treatment.

Nikolai V. Konovalov (1900-1966): his role in the development of neurology and the creation of the Institute of Neurology of the Russian Academy of Medical Sciences.

Nikolai V. Konovalov (1900-1966) has left a significant imprint in the history of Russian neuroscience. He was among the coryphaei of international and national neurology.

Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism.

Autosomal recessive juvenile parkinsonism (AR-JP) is a form of hereditary parkinsonism characterized by variable clinical presentations and caused by mutations in a novel gene, parkin, on chromosome 6q25.2-27. Until now, no Russian cases of parkin-associated AR-JP have been reported on.