Identification of Novel Compound Mutations in PLA2G6 -Associated Neurodegeneration Patient with Characteristic MRI Imaging

In conclusion, the identification of the “eye-of-the-tiger”-like sign in the globus pallidus of the patient expands the phenotypic spectrum ofPLA2G6-associated disorders and reveals its value in differential diagnosis ofPLA2G6-associated disorders.

http://link.springer.com/10.1007/s12035-016-9991-2

Source: Molecular Neurobiology - July 13, 2017 Category: Neurology Source Type: research