1.
Neuroradiol J
; 29(1): 46-8, 2016 Feb.
Article
in English
| MEDLINE
| ID: mdl-26755490
ABSTRACT
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.