BIOLOGY Lecture Notes - Lecture 8: Hereditary Spastic Paraplegia, Spinocerebellar Ataxia, Cytoskeleton
Document Summary
The dynamic remolding of the cytoskeleton is a critical part of most cellular activities, and the structural and physiological malfunction of cytoskeletal proteins typically results in diseases. Some of these may be also caused by defects in the molecular machines that populate the cells in our bodies. Enumerate examples and the molecular basis behind these diseases. Proteins: spastic paraplegias, spinocerebellar ataxias, mental retardation. Spastic paraplegia is the most common of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) in the legs and difficulty walking. Spinocerebellar ataxia type 2 (sca2) represents a genetic disorder with an autosomal dominant inheritance caused by a cag expansion in the ubiquitously expressed atxn2 gene encoding the polyglutamine (polyq)-expanded ataxin-2 protein. The pathophysiological features of sca2 include the progressive atrophy of the cerebellum and the subsequent gradually evolving ataxia. At present, there is no disease-modifying therapy for.
