http://www.raredr.com/news/expert-diagnose-batten
Expert Opinion on How to Diagnose CLN2 (Batten Disease)

James Radke, PhD

At the 15th International Conference on Neuronal Ceroid Lipfuscinosis (NCL, aka Batten Disease) held in  Boston, MA, best practice guidelines for diagnosing  neuronal ceroid lipofuscinosis type 2 (CLN2 disease) or Batten disease were presented.

Diagnosing Batten Disease

In May 2015, international experts met to recommend best laboratory practices for early CLN2 diagnosis. The experts recommended that when clinical signs suggest neuronal ceroid lipfuscinosis (NCLs), TPP1 activity should be the first test performed (along with palmitoyl-protein-thioesterase-1 to exclude CLN1).
 
Unfortunately, getting to that test can take time. The panel noted there are generally 3 phases to getting a CLN2 diagnosis beginning with the suspicion that the child has an unknowns neurological disorder, followed by a general suspicion they have an NCL disorder, followed finally by a specific suspicion they have a CLN disorder.
 
This diagnostic odyssey is illustrated below.
 


The experts suggested the following more efficiently diagnose (or rule out) CLN2:


The gold standard for laboratory diagnosis of CLN2 is demonstrating deficient TPP1 activity and detecting causative mutations in each allele of TPP1/CLN2 gene

References

1.     Izzo E, Alsayed M, Burke D, et al. Expert recommendations for the laboratory diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): diagnostic algorithm and best practice guidelines for a timely diagnosis. Presented at the 15th International Conference on Neuronal Ceroid Lipfuscinosis (Batten Disease); Boston, MA; October 5-8, 2016. Abstract P12.


This article was made possible by a sponsorship from BioMarin Pharmaceutical Inc. Rare Disease Report has sole control over the editorial content.
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