Dentatorubral-pallidoluysian atrophy Test

(DRPLA) Dentatorubral-pallidoluysian atrophy is an autosomal dominant spinocerebellar degeneration and it is caused by a spread of a CAG repeat coding of a polyglutamine tract in the atrophin-1 protein. It is also called as Naito-Oyanagi disease and Haw River Syndrome. This condition was first expressed by Sam Smith in 1958 and several same conditions also showed from the Western countries. There is at least one gene product there which is caused by the (polyQ) CAG repeat encoding polyglutamine. Dentatorubral-pallidoluysian atrophy is almost similar to the Huntington's disease. The CAG expansion repeat develops a gain of the function mutation in the gene product.

It totally depends on the geographic location, country of origin and population being studied. It is first described as an inherited condition in the Japan. There is no prior setup is required for the test but the patient should consult with the expert prior to the test and also after the result of the test. The laboratory should be up to date to get the best results in this case. Predictive testing for Individual with a history of DRPLA family member and a documented expansion in the ATN-1 gene in an infected family member.

1. It is used to know about the gene product.
2. It is useful for the molecular confirmation of a diagnosis of the DRPLA Dentatorubral- pallidoluysian atrophy for the symptomatic patient.
3. It is also useful when the predictive testing of an Individual with DRPLA of a family history and a documented expansion of the ATN-1 gene product in an infected family member.
4. The DRPLA is characterized by anticipation.

It is performed in the laboratory. A PCR method is used for this test to amplify across the region of the ATN1 refers as DRPLA consists of the CAG repeat Assay Products and which are separated by the capillary electrophoresis and then it is sized by the comparison with internal size standards. It is called as Polymerase Chain Reaction (PCR) method and the specimen has to arrive 96 hours before the test and the size of the Polymerase Chain Product and thereby the determination of the repetition of the length is analyzed by the capillary electrophoresis.