TY  - JOUR
AU  - Synofzik, Matthis
AU  - Srulijes, Karin
AU  - Godau, Jana
AU  - Berg, Daniela
AU  - Schöls, Ludger
TI  - Characterizing POLG ataxia: clinics, electrophysiology and imaging.
JO  - The Cerebellum
VL  - 11
IS  - 4
SN  - 1473-4222
CY  - London
PB  - Dunitz
M1  - DZNE-2020-03021
SP  - 1002-1011
PY  - 2012
AB  - 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 
KW  - Adult
KW  - Brain: pathology
KW  - DNA Polymerase gamma
KW  - DNA-Directed DNA Polymerase: genetics
KW  - DNA-Directed DNA Polymerase: metabolism
KW  - Electromagnetic Phenomena
KW  - Female
KW  - Friedreich Ataxia: genetics
KW  - Friedreich Ataxia: pathology
KW  - Humans
KW  - Magnetic Resonance Imaging: methods
KW  - Male
KW  - Middle Aged
KW  - Mutation: genetics
KW  - Young Adult
KW  - DNA Polymerase gamma (NLM Chemicals)
KW  - DNA-Directed DNA Polymerase (NLM Chemicals)
KW  - POLG protein, human (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:22528963
DO  - DOI:10.1007/s12311-012-0378-2
UR  - https://pub.dzne.de/record/136699
ER  -