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  • dementia
  • Here, we identified three cases of the behavioral variant of frontotemporal dementia (bvFTD) that display chorea with fused in sarcoma (FUS)-positive inclusions (FTLD-FUS) and the basophilic inclusion body disease (BIBD) subtype. (biomedcentral.com)
  • Autosomal
  • Die Erkrankung Huntington s Chorea ist eine autosomal dominant vererbte Erkrankung, die gewöhnlich im mittleren Lebensabschnitt beginnt und unausweichlich zum Tode führt. (hu-berlin.de)
  • Chorea-acanthocytosis is caused by mutations in the VPS13A gene and is inherited in an autosomal recessive manner. (nih.gov)
  • Huntington
  • Huntington 's chorea (HC), an incurable hereditary disorder caused by a mutation in a gene on the short arm of human chromosome 4. (encyclopedia.com)
  • Bei Untersuchungen am Menschen wurde in drei Gehirnregionen von Postmortem-Gehirnen von Huntington s Chorea Patienten eine veränderte Expression von alpha1-Antitrypsin festgestellt. (hu-berlin.de)
  • Wenn gewährleistet werden kann, dass die Konzentration von alpha1-Antitrypsin und alphaB-Kristallin während Huntington s Chorea im Gewebe nicht absinkt, könnte dies vielleicht neuronalen Zelltod verhindern und somit bei der Verzögerung des Krankheitsverlaufs nutzbringend eingesetzt werden. (hu-berlin.de)
  • Huntington chorea - an inherited degenerative disorder of the cerebral cortex and corpus striatum. (thefreedictionary.com)
  • Diseases
  • Chorea is a movement disorder which may be associated with immunologic diseases, in particular in the presence of antiphospholipid antibodies (aPL). (frontiersin.org)
  • In addition, some of the individual components of Morvan's fibrillary chorea are suspected of having an autoimmune or paraneoplastic basis because of the diseases and autoantibodies which are associated with them. (bmj.com)
  • bedridden
  • In some extremely rare cases (less than 2 percent), severe muscle weakness, irritability, or confusion may be profound and affected children may become bedridden, a condition sometimes referred to as paralytic chorea. (rarediseases.org)
  • throat
  • Another common feature of chorea-acanthocytosis is involuntary tensing of various muscles ( dystonia ), such as those in the limbs, face, mouth, tongue, and throat. (nih.gov)