Huntington's disease–neuropathology
JPG Vonsattel, C Keller, EPC Ramirez - Handbook of clinical neurology, 2011 - Elsevier
An expansion of a trinucleotide CAG repeat on chromosome 4 causes Huntington disease.
The abnormal elongation of the CAG increases the polyglutamine stretch of huntingtin,
which becomes proportionally toxic. The mutated huntingtin is ubiquitous in somatic tissues,
yet the pathologic changes are apparently restricted to the brain. The degree of the
abnormal expansion of the CAG repeats governs the gradually diffuse atrophy of the brain.
However, the brunt of the degenerative process involves the striatum. The onset of …
The abnormal elongation of the CAG increases the polyglutamine stretch of huntingtin,
which becomes proportionally toxic. The mutated huntingtin is ubiquitous in somatic tissues,
yet the pathologic changes are apparently restricted to the brain. The degree of the
abnormal expansion of the CAG repeats governs the gradually diffuse atrophy of the brain.
However, the brunt of the degenerative process involves the striatum. The onset of …