Clinical and Genetic Aspects in Patients with Idiopathic Parkinson Disease

Abstract

Parkinson syndrome is one of the most often neurodegenerative diseases, which affects the Central Nervous system. James Parkinson was the first who described the clinical symptoms of factor complex, a complex which can be present as a combination of six cardinal signs: tremor, rigor, bradikinesia-hypokinesia, curve pose, lose of postural reflexes and freezing phenomena. To get to the final diagnose, the clinicians usually use the Brain Bank Criteria of UKPDS [9]. Generally, there are four categories of Parkinsonism: Idiopathic Parkinson Disease; Secondary Parkinsonism; Parkinson plus syndrome and other neurodegenerative diseases in which Parkinsonism is main clinical manifestation [7]. Idiopathic Parkinson disease is the most represented type of Parkinsonism and it is maintained in almost 80 percents of the patients with movement disorders. Mostly with unilateral presentation, well respons on Dopamine-agonists and Levodopa, characterized with general slowness and typical tremor, from 4 to 6 Herz. The basic patho-anatomical findings in patients with Idiopathic Parkinson Disease, is loss of neurons which contain neuromelanin. These neurons are located in particular parts of the brain, such as substantia nigra and locus ceruleus. Dopamine level is reduced for almost 80 percents under normal level, especially in striatum [7]. Hystopatological findings direct to presence of intracellular inclusions called Lewy-body, primary in substantia nigra, and they contain alpha-synuclein. Alpha-synuclein is present in many parts of the brain, but mostly in substantia nigra, and it is the only synuclein included in Parkinson disease. It was found that two non-sence mutations in gene of alpha-synuclein, A53T and A30P, are closely related with early appearance of Idiopathic Parkinson Disease between populations in Europe. Accumulation of this protein in dopaminergic neurons is responsible for the process of neurodegeneration [20].