NEURO410 Lecture Notes - Lecture 12: Huntingtin, Max Perutz, Astrogliosis
12 Oct 2016
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Document Summary
Juvenile form: < 20 years (~10% of hd cases) Mech that depend on gain of functions (role of mutant huntingtin aggregates) The role of huntingtin post-translational mod in hd pathology. Novel insights into hd and on the use of gangliosides for hd therapy. Note: disease = usually diagnosed when motor symptoms appear, but behaviour/cognitive dysfunctions may appear years beforehand. Inherited dominant disease with 100% penetrance: children have 50% of inheriting hd. Prevalence of 1 in 10000 in caucasian populations. Specific areas of the brain undergo neurodegeneration in hd. The most affected area = striatum, with gross atrophy of caudate nucleus and the putamen. Other affected areas are the: cortex, and with disease progression, the lateral globus pallidum and the purkinje cells in the cerebellum. Enlargement of ventricles (tissues around the ventricles die) Dramatic atrophy of white matter; recent studies show that this starts years before disease onset (mri)
