Nancy Wexler discovered the cause of this disease by linkage analysis.
The orphan drug tetrabenazine can be used to control this disorder, which can be pathologically classified using the Vonsattel grading system. Nancy Wexler discovered the cause of this disease by linkage analysis. The protein mutated in this disorder is SUMOylated by the Rhes protein and binds to HIP1 to mediate clathrin-driven endocytosis. This disease is characterized by selective loss of GABAergic neurons in the striatum. This disease is caused by an expansion of CAG repeats on chromosome four and is inherited in an autosomal dominant fashion. For 10 points, name this neurological genetic disease which usually manifests by age 40 and causes jerky, uncontrolled movements.
The orphan drug tetrabenazine can be used to control this disorder, which can be pathologically classified using the Vonsattel grading system.
Huntington's disease