TY - JOUR JO - Folia Neuropathologica SN - 1641-4640 VL - 58 IS - 4 PY - 2020 ID - Tarka2020 TI - POLG gene mutation. Clinico-neuropathological study AB - We present a female patient with a mutation of the POLG gene (POLG DNA polymerase gamma, catalytic subunit; *174763) in which the clinical course suggested a mitochondrial disease, a neuropathological examination identified the syndrome more closely, and a genetic test confirmed the disease. Apart from the morphological lesions typical of Alpers-Huttenlocher syndrome, rarely observed symmetrical degenerative changes in the accessory olivary nuclei were found. It was unusual in the clinical course of the disease that pancreatitis was diagnosed before symptoms of liver failure appeared. AU - Tarka, Sylwia AU - Laure-Kamionowska, Milena AU - Wierzba-Bobrowicz, Teresa AU - Witulska, Katarzyna AU - Ciara, Elżbieta AU - Szymańska, Krystyna AU - Krajewski, Paweł AU - Stępień, Tomasz AU - Acewicz, Albert AU - Felczak, Paulina SP - 386 EP - 392 DA - 2020 DO - 10.5114/fn.2020.102441 UR - http://dx.doi.org/10.5114/fn.2020.102441 ER -