000136699 001__ 136699
000136699 005__ 20240321220123.0
000136699 0247_ $$2doi$$a10.1007/s12311-012-0378-2
000136699 0247_ $$2pmid$$apmid:22528963
000136699 0247_ $$2ISSN$$a1473-4222
000136699 0247_ $$2ISSN$$a1473-4230
000136699 037__ $$aDZNE-2020-03021
000136699 041__ $$aEnglish
000136699 082__ $$a610
000136699 1001_ $$0P:(DE-2719)2811275$$aSynofzik, Matthis$$b0$$eFirst author
000136699 245__ $$aCharacterizing POLG ataxia: clinics, electrophysiology and imaging.
000136699 260__ $$aLondon$$bDunitz$$c2012
000136699 264_1 $$2Crossref$$3online$$bSpringer Science and Business Media LLC$$c2012-04-12
000136699 264_1 $$2Crossref$$3print$$bSpringer Science and Business Media LLC$$c2012-12-01
000136699 3367_ $$2DRIVER$$aarticle
000136699 3367_ $$2DataCite$$aOutput Types/Journal article
000136699 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1590591701_12712
000136699 3367_ $$2BibTeX$$aARTICLE
000136699 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000136699 3367_ $$00$$2EndNote$$aJournal Article
000136699 520__ $$aMutations in the mitochondrial DNA polymerase gamma (POLG) cause a highly pleomorphic disease spectrum, and reports about their frequencies in ataxia populations yield equivocal results. This leads to uncertainties about the role of POLG genetics in the workup of patients with unexplained ataxia. A comprehensive characterization of POLG-associated ataxia (POLG-A) will help guide genetic diagnostics and advance our understanding of the disease processes underlying POLG-A. Thirteen patients with POLG-A were assessed by standardized clinical investigation, nerve conduction studies, motor-evoked potentials, magnetic resonance imaging (MRI) and transcranial sonography (TCS). The findings were compared with 13 matched patients with Friedreich's ataxia (FA). In addition to the well-known POLG-associated features of chronic external ophthalmoplegia (100 %), areflexia to the lower extremity (100 %), impaired vibration sense (100 %), bilateral ptosis (69 %) and epilepsy (38 %), also hyperkinetic movement disorders were frequent in POLG-A patients, including chorea (31 %), dystonia (31 %) and myoclonus (23 %). Similar to FA, polyneuropathy was of sensory axonal type (100 %). In contrast to FA, none of the POLG-A patients showed impaired central motor conduction. TCS demonstrated less enlargement of the fourth ventricle and more diffuse cerebellar hyperechogenicity in POLG-A. Corresponding to TCS, MRI revealed no or only mild cerebellar atrophy in most POLG-A patients (85 %). POLG ataxia presents with the clinical characteristics of both afferent and cerebellar ataxia. Cerebellar alterations diffusely involve various parts of the cerebellum, yet cerebellar atrophy is generally mild. POLG-A presents with a high load of distinct non-ataxia features, namely, sensory neuropathy, external ophthalmoplegia, ptosis, epilepsy and/or hyperkinetic movement disorders. Involvement of the corticospinal tract, however, is rare.
000136699 536__ $$0G:(DE-HGF)POF3-345$$a345 - Population Studies and Genetics (POF3-345)$$cPOF3-345$$fPOF III$$x0
000136699 542__ $$2Crossref$$i2012-04-12$$uhttp://www.springer.com/tdm
000136699 588__ $$aDataset connected to CrossRef, PubMed,
000136699 650_7 $$0EC 2.7.7.7$$2NLM Chemicals$$aDNA Polymerase gamma
000136699 650_7 $$0EC 2.7.7.7$$2NLM Chemicals$$aDNA-Directed DNA Polymerase
000136699 650_7 $$0EC 2.7.7.7$$2NLM Chemicals$$aPOLG protein, human
000136699 650_2 $$2MeSH$$aAdult
000136699 650_2 $$2MeSH$$aBrain: pathology
000136699 650_2 $$2MeSH$$aDNA Polymerase gamma
000136699 650_2 $$2MeSH$$aDNA-Directed DNA Polymerase: genetics
000136699 650_2 $$2MeSH$$aDNA-Directed DNA Polymerase: metabolism
000136699 650_2 $$2MeSH$$aElectromagnetic Phenomena
000136699 650_2 $$2MeSH$$aFemale
000136699 650_2 $$2MeSH$$aFriedreich Ataxia: genetics
000136699 650_2 $$2MeSH$$aFriedreich Ataxia: pathology
000136699 650_2 $$2MeSH$$aHumans
000136699 650_2 $$2MeSH$$aMagnetic Resonance Imaging: methods
000136699 650_2 $$2MeSH$$aMale
000136699 650_2 $$2MeSH$$aMiddle Aged
000136699 650_2 $$2MeSH$$aMutation: genetics
000136699 650_2 $$2MeSH$$aYoung Adult
000136699 7001_ $$0P:(DE-2719)9000298$$aSrulijes, Karin$$b1
000136699 7001_ $$0P:(DE-2719)9000100$$aGodau, Jana$$b2
000136699 7001_ $$0P:(DE-2719)2000059$$aBerg, Daniela$$b3
000136699 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b4$$eLast author
000136699 77318 $$2Crossref$$3journal-article$$a10.1007/s12311-012-0378-2$$b : Springer Science and Business Media LLC, 2012-04-12$$n4$$p1002-1011$$tThe Cerebellum$$v11$$x1473-4222$$y2012
000136699 773__ $$0PERI:(DE-600)2071266-2$$a10.1007/s12311-012-0378-2$$gVol. 11, no. 4, p. 1002 - 1011$$n4$$p1002-1011$$q11:4<1002 - 1011$$tThe Cerebellum$$v11$$x1473-4222$$y2012
000136699 909CO $$ooai:pub.dzne.de:136699$$pVDB
000136699 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2811275$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b0$$kDZNE
000136699 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)9000298$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b1$$kDZNE
000136699 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)9000100$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b2$$kDZNE
000136699 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2000059$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b3$$kDZNE
000136699 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2810795$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b4$$kDZNE
000136699 9131_ $$0G:(DE-HGF)POF3-345$$1G:(DE-HGF)POF3-340$$2G:(DE-HGF)POF3-300$$aDE-HGF$$bForschungsbereich Gesundheit$$lErkrankungen des Nervensystems$$vPopulation Studies and Genetics$$x0
000136699 9141_ $$y2012
000136699 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bCEREBELLUM : 2017
000136699 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS
000136699 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline
000136699 915__ $$0StatID:(DE-HGF)0310$$2StatID$$aDBCoverage$$bNCBI Molecular Biology Database
000136699 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search
000136699 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC
000136699 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List
000136699 915__ $$0StatID:(DE-HGF)0111$$2StatID$$aWoS$$bScience Citation Index Expanded
000136699 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection
000136699 915__ $$0StatID:(DE-HGF)9900$$2StatID$$aIF < 5
000136699 9201_ $$0I:(DE-2719)5000005$$kAG Schöls 1$$lClinical Neurogenetics$$x0
000136699 9201_ $$0I:(DE-2719)1210000$$kAG Gasser 1$$lParkinson Genetics$$x1
000136699 9201_ $$0I:(DE-2719)5000055$$kAG Berg$$lParkinson's Disease Genetics AG Berg$$x2
000136699 980__ $$ajournal
000136699 980__ $$aVDB
000136699 980__ $$aI:(DE-2719)5000005
000136699 980__ $$aI:(DE-2719)1210000
000136699 980__ $$aI:(DE-2719)5000055
000136699 980__ $$aUNRESTRICTED
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/S1474-4422(07)70054-6$$o10.1016/S1474-4422(07)70054-6
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1186/1750-1172-1-47$$o10.1186/1750-1172-1-47
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mds.23286$$o10.1002/mds.23286
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1086/444548$$o10.1086/444548
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.jns.2007.01.005$$o10.1016/j.jns.2007.01.005
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s00415-008-0772-3$$o10.1007/s00415-008-0772-3
000136699 999C5 $$2Crossref$$oK Craig 2007$$y2007
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/brain/awl097$$o10.1093/brain/awl097
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/brain/awl088$$o10.1093/brain/awl088
000136699 999C5 $$2Crossref$$o
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/humu.20824$$o10.1002/humu.20824
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1136/jmg.2009.067686$$o10.1136/jmg.2009.067686
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/01.wnl.0000219042.60538.92$$o10.1212/01.wnl.0000219042.60538.92
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/brain/104.3.589$$o10.1093/brain/104.3.589
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/01.wnl.0000325057.33666.72$$o10.1212/01.wnl.0000325057.33666.72
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/WNL.0b013e31822e7ca0$$o10.1212/WNL.0b013e31822e7ca0
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1159/000327751$$o10.1159/000327751
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/S1474-4422(08)70239-4$$o10.1016/S1474-4422(08)70239-4
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/brain/awq067$$o10.1093/brain/awq067
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/ana.410420615$$o10.1002/ana.410420615
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.2307/2529310$$o10.2307/2529310
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/WNL.0b013e3181b78488$$o10.1212/WNL.0b013e3181b78488
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mds.23307$$o10.1002/mds.23307
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mds.23960$$o10.1002/mds.23960
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/01.WNL.0000156516.77696.5A$$o10.1212/01.WNL.0000156516.77696.5A
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/0022-510X(82)90095-8$$o10.1016/0022-510X(82)90095-8
000136699 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s00702-010-0504-6$$o10.1007/s00702-010-0504-6