**5. Conclusions**

In summary, HUS is not yet completely understood from a physiological point of view. The most common neurological manifestations in the acute phase are drowsiness, stupor, irritability and convulsions. Neurological morbidity is important: it affects 20% of children with acute neurological presentation (8% of all patients with HUS). Seizures at presentation were not a risk factor for poor outcome in our series. Electrophysiological abnormalities at the acute phase tend to normalize; when they persist, clinical expression

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593-94


**12** 

*R. Macedonia* 

**Clinical and Genetic Aspects in Patients with** 

Arben Taravari, Marija Milanovska, Igor Petrov, Vera Petrova, Merita

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

Generally, there are four categories of Parkinsonism: Idiopathic Parkinson Disease; Secondary Parkinsonism; Parkinson plus syndrome and other neurodegenerative diseases

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

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

Hystopatological findings direct to presence of intracellular inclusions called Lewy-body,

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

1. To determinate age, sex and difficulty of clinical manifestations in patients with

2. To compare the findings of genetic researches, by age and sex in patients with

in which Parkinsonism is main clinical manifestation [7].

with general slowness and typical tremor, from 4 to 6 Herz.

primary in substantia nigra, and they contain alpha-synuclein.

Idiopathic Parkinson Disease, using UPDRS scale.

Idiopathic Parkison's Disease, with those in control group.

percents under normal level, especially in striatum [7].

**1. Introduction** 

UKPDS [9].

[20].

**2. Aims** 

Ismajli-Marku, Besim Memedi, Fadil Cana and Fatmir Mexhiti

**Idiopathic Parkinson Disease** 

*PHO University Clinic of Neurology Skopje,* 

Zambrano O, Deluchi B & Hevia J. Síndrome hemolítico urémico en Santiago de Chile: Evolución de la función renal y factores pronósticos. *Rev Chil Pediatr* 2005;76: 48-56
