Übersetzung für "Leukodystrophy" in Deutsch

Globoid cellular leukodystrophy (Krabbe disease) is a severe disease occurring in humans.

Gene therapy can thus be used as a treatment for specific genetic disorders (e.g. metachromatic leukodystrophy, Wiskott-Aldrich syndrome).

Globoid cell leukodystrophy (GLD, Krabbe disease) is a severe lysosomal inherited storage disease caused by insufficient function of galactocerebrosidase (GALC).

Many patients with juvenile or adult metachromatic leukodystrophy bear a missense mutation allele which causes substitution of proline 426 by leucine.

Calcification (involving the basal ganglia and white matter), cystic leukodystrophy (predominantly frontotemporal) and cortical-subcortical atrophy are the cardinal features for diagnosis, often associated with atrophy of the corpus callosum, brain stem and cerebellum.

Furthermore, neurodegenerative diseases in the meaning of the invention are Alexander's disease, Alpers-Huttenlocher syndrome, Huntington's chorea, Creutzfeldt-Jakob disease, extrapyramidal syndrome, Friedreich's ataxia, corticobasal degeneration, Krabbe's disease, leukodystrophy, Lewy body dementia, mask face, Pick's disease, multiple sclerosis, multisystem atrophy, neurodegenerative iron deposits in the brains, progressive supranuclear gaze palsy, Shy-Drager syndrome, spinocerebellar ataxia, synucleinopathy and/or tropical spastic paraparesis.

Differential diagnoses include hereditary spastic paraplegias, primary lateral sclerosis, cerebrotendinous xanthomatosis, metachromatic leukodystrophy and Krabbe disease (see these terms) as well as difficiencies in vitamin B12, folic acid or copper.

With the Instruments developed so far (clinical and MRI scores) this project will further pursue the description of late infantile metachromatic leukodystrophy patients and will extend the examinations to juvenile MLD patients.

1. The Leukodystrophy Network (Leukonet) is a research team composed of representatives of various disciplines who aim to perform basic and clinical research projects to conduct research into leukodystrophies. It is the goal of Leukonet to enhance the understanding of the pathogenesis of leukodystrophies, to optimize the diagnosis, and to develop therapies in an effort to improve the treatment of leukodystrophies.

Leukodystrophies are metabolic disorders of the brain, spinal cord and, in part, of the peripheral nerves that lead to degeneration of the white matter (myelin) of the brain. Since mainly nerve tracts, which control voluntary movement, are embedded in myelin, patients with leukodystrophy suffer from progressive movement disorders, and later also from mental deterioration.

Instituto Bernabeu has been studying the role of genetics in reproductive medicine and means of helping families with a hereditary disease for many years. The Rafael Bernabeu Foundation is particularly sensitive to social issues and it designed a pre-implantation genetic diagnosis programme that began in the year 2000 in order to detect genetic abnormalities that lead to hereditary diseases. Dr LledÃ3 explained that, since then, it has been possible to give birth to children who are free of Marfan syndrome, leukodystrophy, retinoschisis, Huntington disease and Duchenne muscular dystrophy, amongst others.