The vast majority of Batten disease cases should be easily diagnosed with genetic testing, enzyme assay, or both. At the University of Rochester, we have developed the capability to screen for the major mutation associated with Juvenile Batten disease or JNCL. Currently Dr. Paul Rothberg at the University of Rochester is developing the necessary tools to identify less common mutations in CLN3, as well as mutations in CLN1 and CLN2. We have published a manuscript demonstrating that our group has the capability to do this diagnostic testing (see link at the bottom of the page). Mutations will be checked against existing mutations using the NCL mutation database, http://www.ucl.ac.uk/ncl/mutation.shtml.
In the future, we will collaborate with other groups who perform enzyme assays of PPT1 and TPP1 when mutation of CLN1 or CLN2 is suspected. While we think that this strategy will confrim the diagnosis of NCL, we also will collaborate to identify the presence of fingerprint/curilinear patterns in skin biopsies.
Families seen at the Batten Disease Diagnostic and Clinical Research Center will be given the opportunity to meet with a genetic counselor for additional education on how Batten disease is inherited and the risk of having other family members develop the disease.
Batten Study Group
601 Elmwood Ave
Rochester, NY 14642
(directed to Amy Vierhile)