**7. Mutation detection**

232 Neuroimaging for Clinicians – Combining Research and Practice

**15,38**

**25**

signs

Normal finding

**50**

Discrete cortical reductive changes Global cortical reductive changes

Fig. 15. Correlation between the immensity of the clinical state (UPDRS) and brain CT/MRI

KTM/MR

**45,45**

**27,2727,27**

**38,46**

Minimal signs Light signs Expressed

**46,15**

finding Spearman Rank Order Correlations R=0, 2 p>0.05

UPDRS

**25 25**

**75**

Extremely expressed

sings

After amplification of a region from egzon 3 of SNCA gene, with usage of the following primers: 5'GTC TCA CAC TTT GGA GGG TTT C-3 and 5'-CAC CTA CCT ACA CAT ACC TCT GAC TC-3', the result was an amplified product with length of 395 base pairs (bp). PCR amplification of a region from egzon 4 of SNCA gene, was performed with these primers 5'- GTC AAT CAG CAA TTT AAG GCT AG-3' and 5'-GAT ATG TTC TTA GAT GCT CAG-3', and the amplifications have length of 215 bp. The amplified products were digested with proper restrictive endonuclease under optimal conditions (puferian solutions suitable for each enzyme separately on temperature of 37 c). With that, no mutated sequence in the PCR product is found.

G88C mutation in egzon 3 of SNCA gene isn't detected in our 32 respondents with IPD. No mutations were found in the G209A in the enzon 4 from SNCA gene, also.

Fig. 16. Electroforetogram from PCR-RELP analysis (agaros gels colored with etidium bromide and photographed on ultraviolet light.

Fig. 17. Electroforetogram from PCR-RELP analysis (agaros gels colored with etidium bromide and photographed on ultraviolet light

Clinical and Genetic Aspects in Patients with Idiopathic Parkinson Disease 235

Tremor is estimated with 2, according to UPDRS scale in 18 respondents (56.25%); 10 (31.25%) with 1; 3 (9.4%) with 3 and only one patient (3.1%) we've found tremor estimated

Petra Vingensuh and all (2010) conducted examination on 25 respondents in initial stadium of IPD. In all of them, unilateral tremor pointed with bradykinesia was found, and it was possible to make diagnosis. Additionally, all these patients gained SPECT testing and in only 10% a proper finding of SPEKT was found. Lately, a number of articles are published, which through examination of cardinal secondary symptoms in patients with IPD, make analysis on their life quality. In our article, the estimation of the immensity of the clinical state was made using the UPDRS scale, which is generally accepted and applied in most

The correlation between respondents' age and the immensity of the clinical state, estimated according to UPDRS scale, is shown in picture 26 in our results. This relation points the existence or negative correlation. Parkinson's disease has fairly difficult clinical state in younger patients and vice verse; the disease is manifested with lighter symptoms in elder patients. But, considering the coefficient value, we can conclude the correlation between

Barone P and all. (2009), this multicentrical article shows the frequency of the nonmotor signs and symptoms such as hyposmia, mood, sleeping, tiredness, perception difficulties,

All these signs are examined in patients on different disease stadiums, and than analyzed to

The authors monitor 524 patients with Parkinson's disease, and they register their nonmotor symptoms and their influence on patients' life in different disease stadiums. They stated, that in younger patients the clinical state is tougher according to UPDRS, comparing to elder patients. Also, the study witnessed that disease progression is much faster in younger

Keush SH and all. (2009), conducted their clinical examination of motor and nonmotor symptoms of Parkinson's disease in Holland. The authors developed a specific scale through which, the possibilities and capabilities for daily activities were analyzed, and according to

According to them, in younger patients we have faster symptoms progression, comparing to

The immensity of the clinical state of Parkinson's disease in our respondents of different gender, show that male patients have significantly tougher clinical state comparing to

Ivi Miler and Golomb AC (2010) made interesting, clinical-epidemiological study, in which is clearly shown that the disease is nearly equally manifested in two genders, but specific symptoms are more frequent in females and others in males. Motor symptoms which appear as a consequence of reduced function of dopaminerigic system, those which we often examine, are dominant in males, and only rigidity as motor symtoms and nonmotor signs

It is assumed that this difference in manifestation by gender, most likely, is influenced by

From the list of the neuropsychological examinations, the respondents gained: visual evoked potentials (VEP); somatosesoral evoked potentials (SSEP); caustic evoked potentials (BAEP) and electroencephalography (EEG). Generally in our 32 respondents, the most

with 4.

scientific articles for Parkinson's disease [6].

these two parameters is statistically insignificant (p>0.05).

which the degree of disease progression can be determined.

patients where the clinical state is manifested later [15].

attention, memory capacity, erectil disfunction [3].

present their influence on the life of these patients.

patients comparing to elder patients [3].

female patients.

are dominant in females [11].

unknown hormonal mechanisms.
