The
vast majority of Batten disease cases should be easily diagnosed with genetic
testing, enzyme assay, or both. The University of Rochester has 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 recently published a manuscript
demonstrating that our group has the capability to do this diagnostic testing.
Mutations will be checked against existing mutations using the NCL mutation
data-base, http://www.ucl.ac.uk/ncl/MutationDatabase.html.
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 confirm the diagnosis of NCL, we also will collaborate
to identify the presence of fingerprint/curvilinear 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.
