PSY 3301 Study Guide - Final Guide: Hereditary Spastic Paraplegia, Peripheral Nervous System, Dominance (Genetics)
1 Mar 2016
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Document Summary
Troyer syndrome is 1 of more than 40 genetically distinct neurological disorders. It"s common features are progressive muscle weakness, spasticity in the legs which contribute to difficulty walking and causes speech disorders. It is a rare disorder of which only 20 cases have been reported in ohio in an old order amish population: onset is typically in early childhood. It is an autosomal recessive disorder, so both parents have to carry it to pass on the defective gene that produces the illness. It has been mapped to a small region on chromosome 13 where there is a single base deletion in exon 4 to a gene encoding a novel protein, spartin which is found in the nervous system. The function of spartin proteins is not yet entirely understood. Researchers believe it is a multifunctional protein that localizes mitochondria and regulates endosomal trafficking: within troyer syndrome there are two types.
