136699 20240321220123.0 10.1007/s12311-012-0378-2 doi pmid:22528963 pmid 1473-4222 ISSN 1473-4230 ISSN DZNE-2020-03021 English 610 Synofzik, Matthis P:(DE-2719)2811275 0 First author Characterizing POLG ataxia: clinics, electrophysiology and imaging. London 2012 Dunitz online Crossref Springer Science and Business Media LLC 2012-04-12 print Crossref Springer Science and Business Media LLC 2012-12-01 article DRIVER Output Types/Journal article DataCite Journal Article journal journal PUB:(DE-HGF)16 1590591701_12712 PUB:(DE-HGF) ARTICLE BibTeX JOURNAL_ARTICLE ORCID Journal Article 0 EndNote 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 %), areflexia to the lower extremity (100 %), impaired vibration sense (100 %), bilateral ptosis (69 %) and epilepsy (38 %), also hyperkinetic movement disorders were frequent in POLG-A patients, including chorea (31 %), dystonia (31 %) and myoclonus (23 %). Similar to FA, polyneuropathy was of sensory axonal type (100 %). In contrast to FA, none of the POLG-A patients showed impaired central motor conduction. TCS demonstrated less enlargement of the fourth ventricle and more diffuse cerebellar hyperechogenicity in POLG-A. Corresponding to TCS, MRI revealed no or only mild cerebellar atrophy in most POLG-A patients (85 %). POLG ataxia presents with the clinical characteristics of both afferent and cerebellar ataxia. Cerebellar alterations diffusely involve various parts of the cerebellum, yet cerebellar atrophy is generally mild. POLG-A presents with a high load of distinct non-ataxia features, namely, sensory neuropathy, external ophthalmoplegia, ptosis, epilepsy and/or hyperkinetic movement disorders. Involvement of the corticospinal tract, however, is rare. 345 - Population Studies and Genetics (POF3-345) G:(DE-HGF)POF3-345 POF3-345 POF III 0 2012-04-12 Crossref http://www.springer.com/tdm Dataset connected to CrossRef, PubMed, DNA Polymerase gamma EC 2.7.7.7 NLM Chemicals DNA-Directed DNA Polymerase EC 2.7.7.7 NLM Chemicals POLG protein, human EC 2.7.7.7 NLM Chemicals Adult MeSH Brain: pathology MeSH DNA Polymerase gamma MeSH DNA-Directed DNA Polymerase: genetics MeSH DNA-Directed DNA Polymerase: metabolism MeSH Electromagnetic Phenomena MeSH Female MeSH Friedreich Ataxia: genetics MeSH Friedreich Ataxia: pathology MeSH Humans MeSH Magnetic Resonance Imaging: methods MeSH Male MeSH Middle Aged MeSH Mutation: genetics MeSH Young Adult MeSH Srulijes, Karin P:(DE-2719)9000298 1 Godau, Jana P:(DE-2719)9000100 2 Berg, Daniela P:(DE-2719)2000059 3 Schöls, Ludger P:(DE-2719)2810795 4 Last author 10.1007/s12311-012-0378-2 : Springer Science and Business Media LLC, 2012-04-12 4 1002-1011 journal-article Crossref The Cerebellum 11 2012 1473-4222 10.1007/s12311-012-0378-2 Vol. 11, no. 4, p. 1002 - 1011 PERI:(DE-600)2071266-2 4 11:4<1002 - 1011 1002-1011 The Cerebellum 11 2012 1473-4222 VDB oai:pub.dzne.de:136699 Deutsches Zentrum für Neurodegenerative Erkrankungen I:(DE-588)1065079516 DZNE 0 P:(DE-2719)2811275 Deutsches Zentrum für Neurodegenerative Erkrankungen I:(DE-588)1065079516 DZNE 1 P:(DE-2719)9000298 Deutsches Zentrum für Neurodegenerative Erkrankungen I:(DE-588)1065079516 DZNE 2 P:(DE-2719)9000100 Deutsches Zentrum für Neurodegenerative Erkrankungen I:(DE-588)1065079516 DZNE 3 P:(DE-2719)2000059 Deutsches Zentrum für Neurodegenerative Erkrankungen I:(DE-588)1065079516 DZNE 4 P:(DE-2719)2810795 DE-HGF Forschungsbereich Gesundheit Erkrankungen des Nervensystems G:(DE-HGF)POF3-340 G:(DE-HGF)POF3-345 G:(DE-HGF)POF3-300 Population Studies and Genetics 0 2012 JCR StatID:(DE-HGF)0100 StatID CEREBELLUM : 2017 DBCoverage StatID:(DE-HGF)0200 StatID SCOPUS DBCoverage StatID:(DE-HGF)0300 StatID Medline DBCoverage StatID:(DE-HGF)0310 StatID NCBI Molecular Biology Database DBCoverage StatID:(DE-HGF)0600 StatID Ebsco Academic Search Peer Review StatID:(DE-HGF)0030 StatID ASC DBCoverage StatID:(DE-HGF)0199 StatID Clarivate Analytics Master Journal List WoS StatID:(DE-HGF)0111 StatID Science Citation Index Expanded DBCoverage StatID:(DE-HGF)0150 StatID Web of Science Core Collection IF < 5 StatID:(DE-HGF)9900 StatID I:(DE-2719)5000005 AG Schöls 1 Clinical Neurogenetics 0 I:(DE-2719)1210000 AG Gasser 1 Parkinson Genetics 1 I:(DE-2719)5000055 AG Berg Parkinson's Disease Genetics AG Berg 2 journal VDB I:(DE-2719)5000005 I:(DE-2719)1210000 I:(DE-2719)5000055 UNRESTRICTED 10.1016/S1474-4422(07)70054-6 -- missing cx lookup -- Crossref 10.1016/S1474-4422(07)70054-6 10.1186/1750-1172-1-47 -- missing cx lookup -- Crossref 10.1186/1750-1172-1-47 10.1002/mds.23286 -- missing cx lookup -- Crossref 10.1002/mds.23286 10.1086/444548 -- missing cx lookup -- Crossref 10.1086/444548 10.1016/j.jns.2007.01.005 -- missing cx lookup -- Crossref 10.1016/j.jns.2007.01.005 10.1007/s00415-008-0772-3 -- missing cx lookup -- Crossref 10.1007/s00415-008-0772-3 2007 Crossref K Craig 2007 10.1093/brain/awl097 -- missing cx lookup -- Crossref 10.1093/brain/awl097 10.1093/brain/awl088 -- missing cx lookup -- Crossref 10.1093/brain/awl088 Crossref 10.1002/humu.20824 -- missing cx lookup -- Crossref 10.1002/humu.20824 10.1136/jmg.2009.067686 -- missing cx lookup -- Crossref 10.1136/jmg.2009.067686 10.1212/01.wnl.0000219042.60538.92 -- missing cx lookup -- Crossref 10.1212/01.wnl.0000219042.60538.92 10.1093/brain/104.3.589 -- missing cx lookup -- Crossref 10.1093/brain/104.3.589 10.1212/01.wnl.0000325057.33666.72 -- missing cx lookup -- Crossref 10.1212/01.wnl.0000325057.33666.72 10.1212/WNL.0b013e31822e7ca0 -- missing cx lookup -- Crossref 10.1212/WNL.0b013e31822e7ca0 10.1159/000327751 -- missing cx lookup -- Crossref 10.1159/000327751 10.1016/S1474-4422(08)70239-4 -- missing cx lookup -- Crossref 10.1016/S1474-4422(08)70239-4 10.1093/brain/awq067 -- missing cx lookup -- Crossref 10.1093/brain/awq067 10.1002/ana.410420615 -- missing cx lookup -- Crossref 10.1002/ana.410420615 10.2307/2529310 -- missing cx lookup -- Crossref 10.2307/2529310 10.1212/WNL.0b013e3181b78488 -- missing cx lookup -- Crossref 10.1212/WNL.0b013e3181b78488 10.1002/mds.23307 -- missing cx lookup -- Crossref 10.1002/mds.23307 10.1002/mds.23960 -- missing cx lookup -- Crossref 10.1002/mds.23960 10.1212/01.WNL.0000156516.77696.5A -- missing cx lookup -- Crossref 10.1212/01.WNL.0000156516.77696.5A 10.1016/0022-510X(82)90095-8 -- missing cx lookup -- Crossref 10.1016/0022-510X(82)90095-8 10.1007/s00702-010-0504-6 -- missing cx lookup -- Crossref 10.1007/s00702-010-0504-6