Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin
نویسندگان
چکیده
منابع مشابه
A comparison of huntington disease and huntington disease-like 2 neuropathology.
Huntington disease-like 2 (HDL2) is an autosomal dominant disorder characterized by adult-onset, progressive motor abnormalities, psychiatric disturbances, and dementia ending in premature death. Clinically, it most closely resembles Huntington disease (HD), although a subset of affected individuals have parkinsonian features. Here, we systematically compare 5 HDL2 and 5 HD brains with the hypo...
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Huntington disease-like 2 (HDL2) and Huntington disease (HD) are adult-onset neurodegenerative diseases characterized by movement disorders, psychiatric disturbances and cognitive decline. Brain tissue from HD and HDL2 patients shows degeneration of the striatum and ubiquitinated inclusions immunoreactive for polyglutamine (polyQ) antibodies. Despite these similarities, the diseases result from...
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15 صفحه اولMilestones in huntington disease.
There have been extraordinary advances in our knowledge of the underlying gene, the protein it encodes, various models of disease, and potential targets for effective therapies for Huntington disease. Huntington disease research has increased exponentially in the past 25 years, and we now understand many of the molecular mechanisms underlying the disease. Still, more work needs to be done befor...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2012
ISSN: 1434-5161,1435-232X
DOI: 10.1038/jhg.2012.111