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Molecular, pathological and clinical investigations of NCL-new strategies for prevention, diagnosis, classification and treatment

Obiettivo

The neuronal ceroid-lipofuscinoses (NCL) are a group of progressive, uniformly fatal neurodegenerative diseases of childhood and rarely in adults which are autosomal-recessively inherited and clinically marked by motor abnormalities, seizures, blindness, and dementia. Enzyme defects are unknown. Morphologically, these diseases are characterized by loss of nerve cells and abnormal accumulation of lipopigments both inside and outside of the brain. There is no causal therapy or long-standing palliative treatment whereas prenatal diagnosis is possible. To improve understanding of NCL the following objectives will be pursued in this European Concerted Action (ECA-NCL) by a multi-disciplinary and multinational approach:
[1] to set up a European Clinical NCL Registry based on the epidemiology and frequency of its clinical forms and variants in families in different parts of Europe;
[2] to map and clone respective genes for NCL;
[3] to set up a European NCL Tissue Registry for post mortem (autopsy) and ante mortem (biopsy) tissues, including fetal tissues, and cultured NCL cells.
[4] to increase awareness of and research into the NCL in Europe

As NCL, so far, has been found resistent to discovery of cause, pathogenesis, and therapy, there is now an urgent need to address the above-mentioned issues within a large, but heterogeneous and diversified group of European researchers by workshops and other meetings, by exchange of data, researchers and tissues, by jointly publishing available data, and finally to balance geographic and national differences in knowledge and experience as to NCL according to epidemiological needs.
After the completion of this European Concerted Action (ECA-NCL), it is expected of members of this ECA-NCL to have substantially contributed to the global body of knowledge on NCL, to have obtained valuable epidemiological data, to have made striding progress in the genetics of NCL and thereby have opened new avenues of molecular, biochemical, morphological and eventual therapeutic investigations.
Whilst within the nosological spectrum of neurodegenerative diseases those in adults, i.e. Alzheimer disease, Parkinson disease, amyotrophic lateral sclerosis, are predominantly studied and their research is amply funded, increased research on NCL would balance this inequity and foster encouragement to enhance research on other neurodegenerative diseases in children.

Campo scientifico (EuroSciVoc)

CORDIS classifica i progetti con EuroSciVoc, una tassonomia multilingue dei campi scientifici, attraverso un processo semi-automatico basato su tecniche NLP. Cfr.: Il Vocabolario Scientifico Europeo.

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Coordinatore

JOHANNES GUTENBERG UNIVERSITAET MAINZ
Contributo UE
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Indirizzo
1,Langenbeckstrasse 1
55131 Mainz
Germania

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