%0 Journal Article
%A Synofzik, Matthis
%A Srulijes, Karin
%A Godau, Jana
%A Berg, Daniela
%A Schöls, Ludger
%T Characterizing POLG ataxia: clinics, electrophysiology and imaging.
%J The Cerebellum
%V 11
%N 4
%@ 1473-4222
%C London
%I Dunitz
%M DZNE-2020-03021
%P 1002-1011
%D 2012
%X Mutations in the mitochondrial DNA polymerase gamma (POLG) cause a highly pleomorphic disease spectrum, and reports about their frequencies in ataxia populations yield equivocal results. This leads to uncertainties about the role of POLG genetics in the workup of patients with unexplained ataxia. A comprehensive characterization of POLG-associated ataxia (POLG-A) will help guide genetic diagnostics and advance our understanding of the disease processes underlying POLG-A. Thirteen patients with POLG-A were assessed by standardized clinical investigation, nerve conduction studies, motor-evoked potentials, magnetic resonance imaging (MRI) and transcranial sonography (TCS). The findings were compared with 13 matched patients with Friedreich's ataxia (FA). In addition to the well-known POLG-associated features of chronic external ophthalmoplegia (100 
%K Adult
%K Brain: pathology
%K DNA Polymerase gamma
%K DNA-Directed DNA Polymerase: genetics
%K DNA-Directed DNA Polymerase: metabolism
%K Electromagnetic Phenomena
%K Female
%K Friedreich Ataxia: genetics
%K Friedreich Ataxia: pathology
%K Humans
%K Magnetic Resonance Imaging: methods
%K Male
%K Middle Aged
%K Mutation: genetics
%K Young Adult
%K DNA Polymerase gamma (NLM Chemicals)
%K DNA-Directed DNA Polymerase (NLM Chemicals)
%K POLG protein, human (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:22528963
%R 10.1007/s12311-012-0378-2
%U https://pub.dzne.de/record/136699