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Items: 2

1.

Huntington disease-like 2

Huntington disease-like 2 (HDL2) typically presents in midlife with a relentless progressive triad of movement, emotional, and cognitive abnormalities progressing to death over ten to 20 years. In some individuals the presentation resembles juvenile-onset Huntington disease (HD) or the Westphal variant of HD, usually presenting in the fourth decade (ages 29 to 41 years) with diminished coordination and weight loss despite increase in food intake. Neurologic abnormalities include parkinsonism (rigidity, bradykinesia, tremor), dysarthria, and hyperreflexia. In others the presentation is more variable but, in general, corresponds to typical HD. [from GeneReviews]

MedGen UID:
341120
Concept ID:
C1847987
Disease or Syndrome
2.

Ubiquitin-positive cerebral inclusion bodies

Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain. [from HPO]

MedGen UID:
489597
Concept ID:
CN167809
Finding

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