Article
Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation.
The neuroradiology journal - 1 Feb 2016
Henao Adriana I, Pira Sonia, Herrera Diego A, Vargas Sergio A, Montoya Jorge, Castillo Mauricio
Abstract excerpt
Patients with mutations in the polymerase gamma gene (POLG) may present with progressive ataxia and in such situations neuroimaging findings may suggest the diagnosis. Herein we report a patient with a POLG gene W748S homozygous mutation and characteristic lesions in the thalamus, cerebellum and inferior olivary nucleus seen on magnetic resonance imaging.
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