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MALADIE FAMILIALE [2 records]

Filter results by subject field Alphabetical list of terms

Filter results by subject field

Alphabetical list of terms

Record 1 2012-05-03

English

Subject field(s)
  • Epidemiology
  • Genetics
DEF

Inherited form of Creutzfeldt-Jakob disease which shows an autosomal dominant pattern of disease segregation associated with a gene mutation.

OBS

If onset is usually at a slightly younger age (± 50), it generally shows clinical and pathological features analogous to the sporadic form.

French

Domaine(s)
  • Épidémiologie
  • Génétique
DEF

Forme héréditaire à transmission autosomique dominante de la maladie de Creutzfeldt-Jakob associée à une mutation du gène de la prion-protéine.

OBS

Elle survient plus précocement que la forme sporadique (âge moyen : 50 ans). D'évolution plus longue, elle présente des caractéristiques cliniques et neuropathologiques analogues à la forme sporadique.

Spanish

Save record 1

Record 2 2008-11-18

English

Subject field(s)
  • Genetics
CONT

Not until the 1980s, however, could molecular biology determine the chemical sequence of a gene; the best it could do before then was try to link familial diseases with other inherited traits, such as blood type or tissue type.

French

Domaine(s)
  • Génétique
CONT

Dans environ 5% des cas, la sclérose latérale amyotrophique est une maladie familiale (elle touche plusieurs membres d'une même famille). La recherche de facteurs génétiques a permis de mettre en évidence, chez 15% de ces formes familiales, la présence d'une mutation d'un gène situé sur le chromosome 21 : le gène la «superoxyde dismutase Cuivre /Zinc», une enzyme qui intervient dans le contrôle du métabolisme de l'oxygène.

Spanish

Campo(s) temático(s)
  • Genética
Save record 2

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