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| 001 | 136699 | ||
| 005 | 20240321220123.0 | ||
| 024 | 7 | _ | |a 10.1007/s12311-012-0378-2 |2 doi |
| 024 | 7 | _ | |a pmid:22528963 |2 pmid |
| 024 | 7 | _ | |a 1473-4222 |2 ISSN |
| 024 | 7 | _ | |a 1473-4230 |2 ISSN |
| 037 | _ | _ | |a DZNE-2020-03021 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Synofzik, Matthis |0 P:(DE-2719)2811275 |b 0 |e First author |
| 245 | _ | _ | |a Characterizing POLG ataxia: clinics, electrophysiology and imaging. |
| 260 | _ | _ | |a London |c 2012 |b Dunitz |
| 264 | _ | 1 | |3 online |2 Crossref |b Springer Science and Business Media LLC |c 2012-04-12 |
| 264 | _ | 1 | |3 print |2 Crossref |b Springer Science and Business Media LLC |c 2012-12-01 |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1590591701_12712 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a 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. |
| 536 | _ | _ | |a 345 - Population Studies and Genetics (POF3-345) |0 G:(DE-HGF)POF3-345 |c POF3-345 |f POF III |x 0 |
| 542 | _ | _ | |i 2012-04-12 |2 Crossref |u http://www.springer.com/tdm |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, |
| 650 | _ | 7 | |a DNA Polymerase gamma |0 EC 2.7.7.7 |2 NLM Chemicals |
| 650 | _ | 7 | |a DNA-Directed DNA Polymerase |0 EC 2.7.7.7 |2 NLM Chemicals |
| 650 | _ | 7 | |a POLG protein, human |0 EC 2.7.7.7 |2 NLM Chemicals |
| 650 | _ | 2 | |a Adult |2 MeSH |
| 650 | _ | 2 | |a Brain: pathology |2 MeSH |
| 650 | _ | 2 | |a DNA Polymerase gamma |2 MeSH |
| 650 | _ | 2 | |a DNA-Directed DNA Polymerase: genetics |2 MeSH |
| 650 | _ | 2 | |a DNA-Directed DNA Polymerase: metabolism |2 MeSH |
| 650 | _ | 2 | |a Electromagnetic Phenomena |2 MeSH |
| 650 | _ | 2 | |a Female |2 MeSH |
| 650 | _ | 2 | |a Friedreich Ataxia: genetics |2 MeSH |
| 650 | _ | 2 | |a Friedreich Ataxia: pathology |2 MeSH |
| 650 | _ | 2 | |a Humans |2 MeSH |
| 650 | _ | 2 | |a Magnetic Resonance Imaging: methods |2 MeSH |
| 650 | _ | 2 | |a Male |2 MeSH |
| 650 | _ | 2 | |a Middle Aged |2 MeSH |
| 650 | _ | 2 | |a Mutation: genetics |2 MeSH |
| 650 | _ | 2 | |a Young Adult |2 MeSH |
| 700 | 1 | _ | |a Srulijes, Karin |0 P:(DE-2719)9000298 |b 1 |
| 700 | 1 | _ | |a Godau, Jana |0 P:(DE-2719)9000100 |b 2 |
| 700 | 1 | _ | |a Berg, Daniela |0 P:(DE-2719)2000059 |b 3 |
| 700 | 1 | _ | |a Schöls, Ludger |0 P:(DE-2719)2810795 |b 4 |e Last author |
| 773 | 1 | 8 | |a 10.1007/s12311-012-0378-2 |b : Springer Science and Business Media LLC, 2012-04-12 |n 4 |p 1002-1011 |3 journal-article |2 Crossref |t The Cerebellum |v 11 |y 2012 |x 1473-4222 |
| 773 | _ | _ | |a 10.1007/s12311-012-0378-2 |g Vol. 11, no. 4, p. 1002 - 1011 |0 PERI:(DE-600)2071266-2 |n 4 |q 11:4<1002 - 1011 |p 1002-1011 |t The Cerebellum |v 11 |y 2012 |x 1473-4222 |
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| 914 | 1 | _ | |y 2012 |
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