Two novel mutations recently have been identified in the DJ-1 gene that cause a new form of autosomal recessive, early-onset parkinsonism. Because the pathological role of this protein is unknown, we examined the issue here and report the colocalization of DJ-1 protein within a subset of pathological tau inclusions in a diverse group of neurodegenerative disorders known as tauopathies. Our study extends the view that different neurodegenerative diseases may have similar pathological mechanisms, and that these processes likely include DJ-1.

doi.org/10.1002/ana.10782, hdl.handle.net/1765/57229
Annals of Neurology
Department of Clinical Genetics

Rizzu, P., Hinkle, D., Zhukareva, V., Bonifati, V., Severijnen, L.-A., Martinez, D., … Heutink, P. (2004). DJ-1 Colocalizes with Tau Inclusions: A Link between Parkinsonism and Dementia. Annals of Neurology, 55(1), 113–118. doi:10.1002/ana.10782