Batten Disease

Short video introduction of the Batten Disease by Dr. Raymond Wang from CHOC.

He mentioned these signs: speech delay, missed developmental milestones, seizures, unsteady walking, loss of peripheral vision.

Genes: PPT1 , CLN2 (TPP1 Deficiency), CLN3, CLN4 (DNAJC5), CLN5, CLN6, CLN7, CLN8, CLN9, CLN10 (CTSD), CLN11/GRN, CLN12/ATP13A2, CLN13/CTSF, CLN14/KCTD7.

Review of Genetics of the Neuronal Ceroid Lipofuscinoses (R)