Furthermore, most of the patients with the progressive myoclonus epilepsy phenotype inherited their expanded alleles from their affected fathers.
Dentatorubral pallidoluysian atrophy (DRPLA) is an autosomal predominant neurodegenerative disease. It is characterized by respective combinations of ataxia, choreoathetosis, myoclonus, epilepsy, and dementia as easily as a broad scope of ages at onslaught. In patients under the age of 20, dentatorubral pallidoluysian atrophy presents as seizures, ataxia, myoclonus, as well as progressive mental deterioration. In patients over the age of 20, dentatorubral pallidoluysian atrophy is suspected when a person develops ataxia, choreoathetosis, dementia, and psychiatric disturbances. A positive family history confirms the diagnosis. The size of the repeat transmitted to the next generation depends upon the size of the parent’s repeat and the sex of the transmitting parent. Therefore, it is always important to evaluate both parents of an affected individual even if they appear to have no symptoms of DRPLA.