Wilichowski, Ekkehard

[["dc.bibliographiccitation.artnumber","10"],["dc.bibliographiccitation.journal","Molecular Cytogenetics"],["dc.bibliographiccitation.volume","2"],["dc.contributor.author","Auber, Bernd"],["dc.contributor.author","Bruemmer, Verena"],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Boehm, Detlef"],["dc.contributor.author","Liehr, Thomas"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Wilichowski, Ekkehard"],["dc.contributor.author","Argyriou, Loukas"],["dc.contributor.author","Bartels, Iris"],["dc.date.accessioned","2018-11-07T08:35:08Z"],["dc.date.available","2018-11-07T08:35:08Z"],["dc.date.issued","2009"],["dc.description.abstract","Background: Submicroscopic imbalances in the subtelomeric regions of the chromosomes are considered to play an important role in the aetiology of mental retardation (MR). The aim of the study was to evaluate a quantitative PCR (qPCR) protocol established by Boehm et al. (2004) in the clinical routine of subtelomeric testing. Results: 296 patients with MR and a normal karyotype (500-550 bands) were screened for subtelomeric imbalances by using qPCR combined with SYBR green detection. In total, 17 patients (5.8%) with 20 subtelomeric imbalances were identified. Six of the aberrations (2%) were classified as causative for the symptoms, because they occurred either de novo in the patients (5 cases) or the aberration were be detected in the patient and an equally affected parent (1 case). The extent of the deletions ranged from 1.8 to approximately 10 Mb, duplications were 1.8 to approximately 5 Mb in size. In 6 patients, the copy number variations (CNVs) were rated as benign polymorphisms, and the clinical relevance of these CNVs remains unclear in 5 patients (1.7%). Therefore, the overall frequency of clinically relevant imbalances ranges between 2% and 3.7% in our cohort."],["dc.identifier.doi","10.1186/1755-8166-2-10"],["dc.identifier.isi","000208460900009"],["dc.identifier.pmid","19284615"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/5765"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/17987"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Biomed Central Ltd"],["dc.relation.issn","1755-8166"],["dc.rights","CC BY 2.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/2.0"],["dc.title","Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","64"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Orphanet Journal of Rare Diseases"],["dc.bibliographiccitation.volume","16"],["dc.contributor.author","Reinert, Marie-Christine"],["dc.contributor.author","Pacheu-Grau, David"],["dc.contributor.author","Catarino, Claudia B."],["dc.contributor.author","Klopstock, Thomas"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Schittkowski, Michael Peter"],["dc.contributor.author","Wilichowski, Ekkehard"],["dc.contributor.author","Rehling, Peter"],["dc.contributor.author","Brockmann, Knut"],["dc.date.accessioned","2021-04-14T08:28:08Z"],["dc.date.available","2021-04-14T08:28:08Z"],["dc.date.issued","2021"],["dc.date.updated","2022-07-29T12:17:42Z"],["dc.description.abstract","Background Leber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder and characterized by acute or subacute painless visual loss. Environmental factors reported to trigger visual loss in LHON mutation carriers include smoking, heavy intake of alcohol, raised intraocular pressure, and some drugs, including several carbonic anhydrase inhibitors. The antiepileptic drug sulthiame (STM) is effective especially in focal seizures, particularly in benign epilepsy of childhood with centrotemporal spikes, and widely used in pediatric epileptology. STM is a sulfonamide derivate and an inhibitor of mammalian carbonic anhydrase isoforms I–XIV. Results We describe two unrelated patients, an 8-year-old girl and an 11-year-old boy, with cryptogenic focal epilepsy, who suffered binocular (subject #1) or monocular (subject #2) visual loss in close temporal connection with starting antiepileptic pharmacotherapy with STM. In both subjects, visual loss was due to LHON. We used real-time respirometry in fibroblasts derived from LHON patients carrying the same mitochondrial mutations as our two subjects to investigate the effect of STM on oxidative phosphorylation. Oxygen consumption rate in fibroblasts from a healthy control was not impaired by STM compared with a vehicle control. In contrast, fibroblasts carrying the m.14484T>C or the m.3460G>A LHON mutation displayed a drastic reduction of the respiration rate when treated with STM compared to vehicle control. Conclusions Our observations point to a causal relationship between STM treatment and onset or worsening of visual failure in two subjects with LHON rather than pure coincidence. We conclude that antiepileptic medication with STM may pose a risk for visual loss in LHON mutation carriers and should be avoided in these patients."],["dc.description.sponsorship","Open-Access-Publikationsfonds 2021"],["dc.identifier.citation","Orphanet Journal of Rare Diseases. 2021 Feb 04;16(1):64"],["dc.identifier.doi","10.1186/s13023-021-01690-y"],["dc.identifier.pmid","33541401"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/17726"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/82509"],["dc.identifier.url","https://mbexc.uni-goettingen.de/literature/publications/219"],["dc.identifier.url","https://sfb1286.uni-goettingen.de/literature/publications/102"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-399"],["dc.notes.intern","Merged from goescholar"],["dc.relation","EXC 2067: Multiscale Bioimaging"],["dc.relation","SFB 1286: Quantitative Synaptologie"],["dc.relation","SFB 1286 | A06: Mitochondrienfunktion und -umsatz in Synapsen"],["dc.relation.eissn","1750-1172"],["dc.relation.workinggroup","RG Rehling (Mitochondrial Protein Biogenesis)"],["dc.rights","CC BY 4.0"],["dc.rights.holder","The Author(s)"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.subject","Sulthiame"],["dc.subject","Carbonic anhydrase inhibitor"],["dc.subject","Adverse effects"],["dc.subject","Leber hereditary optic neuropathy"],["dc.subject","LHON"],["dc.subject","Oxygen consumption rate"],["dc.title","Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.subtype","original_ja"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","905"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Journal of Inherited Metabolic Disease"],["dc.bibliographiccitation.lastpage","914"],["dc.bibliographiccitation.volume","38"],["dc.contributor.author","Huemer, Martina"],["dc.contributor.author","Karall, Daniela"],["dc.contributor.author","Schossig, Anna"],["dc.contributor.author","Abdenur, Jose E."],["dc.contributor.author","Al Jasmi, Fatma"],["dc.contributor.author","Biagosch, Caroline"],["dc.contributor.author","Distelmaier, Felix"],["dc.contributor.author","Freisinger, Peter"],["dc.contributor.author","Graham, Brett H."],["dc.contributor.author","Haack, Tobias B."],["dc.contributor.author","Hauser, Natalie"],["dc.contributor.author","Hertecant, Jozef"],["dc.contributor.author","Ebrahimi-Fakhari, Darius"],["dc.contributor.author","Konstantopoulou, Vassiliki"],["dc.contributor.author","Leydiker, Karen"],["dc.contributor.author","Lourenco, Charles M."],["dc.contributor.author","Scholl-Buergi, Sabine"],["dc.contributor.author","Wilichowski, Ekkehard"],["dc.contributor.author","Wolf, Nicole I."],["dc.contributor.author","Wortmann, Saskia B."],["dc.contributor.author","Taylor, Robert W."],["dc.contributor.author","Mayr, Johannes A."],["dc.contributor.author","Bonnen, Penelope E."],["dc.contributor.author","Sperl, Wolfgang"],["dc.contributor.author","Prokisch, Holger"],["dc.contributor.author","McFarland, Robert"],["dc.date.accessioned","2018-11-07T09:52:39Z"],["dc.date.available","2018-11-07T09:52:39Z"],["dc.date.issued","2015"],["dc.description.abstract","FBXL4 deficiency is a recently described disorder of mitochondrial maintenance associated with a loss of mitochondrial DNA in cells. To date, the genetic diagnosis of FBXL4 deficiency has been established in 28 individuals. This paper retrospectively reviews proxy-reported clinical and biochemical findings and evaluates brain imaging, morphological and genetic data in 21 of those patients. Neonatal/early-onset severe lactic acidosis, muscular hypotonia, feeding problems and failure to thrive is the characteristic pattern at first presentation. Facial dysmorphic features are present in 67 % of cases. Seven children died (mean age 37 months); 11 children were alive (mean age at follow-up 46 months), three children were lost to follow-up. All survivors developed severe psychomotor retardation. Brain imaging was non-specific in neonates but a later-onset, rapidly progressive brain atrophy was noted. Elevated blood lactate and metabolic acidosis were observed in all individuals; creatine kinase was elevated in 45 % of measurements. Diagnostic workup in patient tissues and cells revealed a severe combined respiratory chain defect with a general decrease of enzymes associated with mitochondrial energy metabolism and a relative depletion of mitochondrial DNA content. Mutations were detected throughout the FBXL4 gene albeit with no clear delineation of a genotype-phenotype correlation. Treatment with \"mitochondrial medications\" did not prove effective. In conclusion, a clinical pattern of early-onset encephalopathy, persistent lactic acidosis, profound muscular hypotonia and typical facial dysmorphism should prompt initiation of molecular genetic analysis of FBXL4. Establishment of the diagnosis permits genetic counselling, prevents patients undergoing unhelpful diagnostic procedures and allows for accurate prognosis."],["dc.identifier.doi","10.1007/s10545-015-9836-6"],["dc.identifier.isi","000360436700015"],["dc.identifier.pmid","25868664"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/36176"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.relation.issn","1573-2665"],["dc.relation.issn","0141-8955"],["dc.title","Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","e13513"],["dc.bibliographiccitation.issue","10"],["dc.bibliographiccitation.journal","PLoS ONE"],["dc.bibliographiccitation.volume","5"],["dc.contributor.author","Brinckmann, Anja"],["dc.contributor.author","Weiss, Claudia"],["dc.contributor.author","Wilbert, Friederike"],["dc.contributor.author","von Moers, Arpad"],["dc.contributor.author","Zwirner, Angelika"],["dc.contributor.author","Stoltenburg-Didinger, Gisela"],["dc.contributor.author","Wilichowski, Ekkehard"],["dc.contributor.author","Schuelke, Markus"],["dc.date.accessioned","2018-11-07T08:37:56Z"],["dc.date.available","2018-11-07T08:37:56Z"],["dc.date.issued","2010"],["dc.description.abstract","Human patients with myoclonic epilepsy with ragged-red fibers (MERRF) suffer from regionalized pathology caused by a mutation in the mitochondrial DNA (m.8344A -> G). In MERRF-syndrome brain and skeletal muscles are predominantly affected, despite mtDNA being present in any tissue. In the past such tissue-specificity could not be explained by varying mtDNA mutation loads. In search for a region-specific pathology in human individuals we determined the mtDNA/nDNA ratios along with the mutation loads in 43 different post mortem tissue samples of a 16-year-old female MERRF patient and in four previously healthy victims of motor vehicle accidents. In brain and muscle we further determined the quantity of mitochondrial proteins (COX subunits II and IV), transcription factors (NRF1 and TFAM), and VDAC1 (Porin) as a marker for the mitochondrial mass. In the patient the mutation loads varied merely between 89-100%. However, mtDNA copy numbers were increased 3-7 fold in predominantly affected brain areas (e.g. hippocampus, cortex and putamen) and in skeletal muscle. Similar increases were absent in unaffected tissues (e.g. heart, lung, kidney, liver, and gastrointestinal organs). Such mtDNA copy number increase was not paralleled by an augmentation of mitochondrial mass in some investigated tissues, predominantly in the most affected tissue regions of the brain. We thus conclude that \"futile' stimulation of mtDNA replication per se or a secondary failure to increase the mitochondrial mass may contribute to the regionalized pathology seen in MERRF-syndrome."],["dc.identifier.doi","10.1371/journal.pone.0013513"],["dc.identifier.isi","000283216400018"],["dc.identifier.pmid","20976001"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/6120"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/18660"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Public Library Science"],["dc.relation.issn","1932-6203"],["dc.rights","CC BY 2.5"],["dc.rights.uri","https://creativecommons.org/licenses/by/2.5"],["dc.title","Regionalized Pathology Correlates with Augmentation of mtDNA Copy Numbers in a Patient with Myoclonic Epilepsy with Ragged-Red Fibers (MERRF-Syndrome)"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","306"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","European Journal of Pediatrics"],["dc.bibliographiccitation.lastpage","310"],["dc.bibliographiccitation.volume","164"],["dc.contributor.author","Jerkic, S."],["dc.contributor.author","Rosewich, Hendrik"],["dc.contributor.author","Scharf, J. G."],["dc.contributor.author","Perske, Christina"],["dc.contributor.author","Fuzesi, L"],["dc.contributor.author","Wilichowski, E"],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2017-09-07T11:54:27Z"],["dc.date.available","2017-09-07T11:54:27Z"],["dc.date.issued","2005"],["dc.description.abstract","Familial adenomatous polyposis (FAP) is an autosomal dominant disorder that characteristically presents with colon cancer in early adult life. We describe a Pakistani FAP family in which two sons had an unusually early manifestation of colorectal cancer. The index patient presented at 11 years of age with abdominal pain, rectal bleeding and iron deficiency anaemia. Colonoscopy showed that the colon was carpeted with a myriad of polyps. Oesophago-gastric and duodenal endoscopy revealed that polyps had also developed in the duodenum. Multiple biopsies indicated neoplastic lesions. The patient underwent a proctocolectomy and endoscopic duodenal mucosectomy. The diagnosis of an adenocarcinoma of the colon and further adenomatous polyps with low-grade and high-grade dysplasia was confirmed by histology. Family screening including a blood test for anaemia and bowel examination revealed that his 12-year-old brother was also affected. Conclusion:Children with familial adenomatous polyposis are at risk for colon cancer and emphasise the need for early tumour recognition. Gastrointestinal symptoms in children should be thoroughly evaluated and standard screening for colonic polyposis should be performed in all individuals with a positive family history and/or known mutations in cancer-associated genes, particularly in children who are under 10 years of age."],["dc.identifier.doi","10.1007/s00431-004-1602-y"],["dc.identifier.gro","3143858"],["dc.identifier.isi","000228640700010"],["dc.identifier.pmid","15726412"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/1418"],["dc.language.iso","en"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","PUB_WoS_Import"],["dc.relation.issn","0340-6199"],["dc.title","Colorectal cancer in two pre-teenage siblings with familial adenomatous polyposis"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","239"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Human Mutation"],["dc.bibliographiccitation.lastpage","247"],["dc.bibliographiccitation.volume","25"],["dc.contributor.author","Zavadakova, P."],["dc.contributor.author","Fowler, B."],["dc.contributor.author","Suormala, T."],["dc.contributor.author","Novotna, Z."],["dc.contributor.author","Mueller, P."],["dc.contributor.author","Hennermann, Julia B."],["dc.contributor.author","Zeman, J."],["dc.contributor.author","Vilaseca, M. A."],["dc.contributor.author","Vilarinho, L."],["dc.contributor.author","Gutsche, S."],["dc.contributor.author","Wilichowski, E."],["dc.contributor.author","Horneff, G."],["dc.contributor.author","Kozich, V."],["dc.date.accessioned","2018-11-07T08:40:05Z"],["dc.date.available","2018-11-07T08:40:05Z"],["dc.date.issued","2005"],["dc.description.abstract","The cblE type of homocystinuria is a rare autosomal recessive disorder caused by impaired reductive activation of methionine synthase. Although earlier biochemical studies proposed that the methionine synthase enzyme might be activated by two different reducing systems, mutations were reported in only the methionine synthase reductase gene (MTRR) in cblE patients. The pathogenicity of MTRR mutations, however, has not yet been tested functionally. We report on nine patients of European origin affected by the cblE type of homocystinuria. They presented between 2 weeks and 3 years of age (median age 4 weeks) with anemia, which was macrocytic in only three patients, and with neurological involvement in all but two cases. Bone marrow examination performed in seven patients showed megaloblastic changes in all but one of them. All patients exhibited moderate to severe hyperhomocysteinemia (median plasma total homocysteine [Hcy] 92 mumol/L, range 44169), while clearly reduced methionine was observed only in four cases. Pathogenic mutations were identified in both parental alleles of the MTRR gene in all patients. Five known (c.903+469T>C, c.1361C>T, c.1459G>A, c.1557-4-1557+3del7, and c.1622_1623dupTA) and three novel mutations (c.7A>T, c.1573C>T, and c.1953,6-1953_2del5) were detected. Importantly, transfection of fibroblasts of cblE patients with a wild-type MTRR minigene expression construct resulted in a significant approximately four-fold increase of methionine synthesis, indicating correction of the enzyme defect. Our study shows a link between a milder predominantly hematological presentation and homozygosity for the c.1361C>T mutation, but no other obvious genotype-phenotype correlation. The identification of mutations in the MTRR gene, together with restoration of methionine synthesis following MTRR minigene expression in cblE cells confirms that this disease is caused by defects in the MTRR gene. (C) 2005 Wiley-Liss, Inc."],["dc.identifier.doi","10.1002/humu.20131"],["dc.identifier.isi","000227362800003"],["dc.identifier.pmid","15714522"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/19146"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","1059-7794"],["dc.title","cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.journal","Biochimica et Biophysica Acta (BBA) - Bioenergetics"],["dc.bibliographiccitation.volume","1657"],["dc.contributor.author","Wilichowski, E."],["dc.contributor.author","Bottcher, S."],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","van Riesen, A. K. J."],["dc.contributor.author","Hanefeld, Folker"],["dc.date.accessioned","2018-11-07T10:52:08Z"],["dc.date.available","2018-11-07T10:52:08Z"],["dc.date.issued","2004"],["dc.format.extent","96"],["dc.identifier.isi","000222588000246"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/49048"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Elsevier Science Bv"],["dc.publisher.place","Amsterdam"],["dc.relation.conference","6th European Meeting on Mitochondrial Pathology"],["dc.relation.eventlocation","Univ Med Ctr Nijmegen, Nijmegen, NETHERLANDS"],["dc.relation.issn","0005-2728"],["dc.title","Familial mitochondrial myopathy and diabetes mellitus due to a rare mtDNA mutation (tRNAGlu 14.709T > C): clinical presentation and therapeutical effects"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","234"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Der Ophthalmologe"],["dc.bibliographiccitation.lastpage","237"],["dc.bibliographiccitation.volume","100"],["dc.contributor.author","Staudt, S."],["dc.contributor.author","Joussen, A. M."],["dc.contributor.author","Rating, D."],["dc.contributor.author","Wilichowski, E."],["dc.contributor.author","Kolling, G."],["dc.contributor.author","Holz, Frank G."],["dc.date.accessioned","2018-11-07T10:40:47Z"],["dc.date.available","2018-11-07T10:40:47Z"],["dc.date.issued","2003"],["dc.description.abstract","Background. Mitochondrial encephalomyopathies result from deletions in the nuclear or mitochondrial (mt) DNA. Deletions in the mtDNA are often sporadic. Mitochondriopathies are commonly associated with chronic progessive external ophthalmoplegia (CPEO). Here we describe a patient with a structural mtDNA aberration whose presenting sign was impaired visual acuity in the presence of a pigmented retinopathy but lack of impaired ocular motility. Patient. A 7-year-old girl presented with impaired visual acuity (0.4 OD and 0.5 OS), coarse hyperpigmentation of the posterior pole and diffuse hyperpigmentation with irregular depigmentation in the periphery. Scotopic and photopic as well as multifocal ERG were abnormal. Further symptoms included an incomplete inner ear deafness, ataxia, lapses of coordination and an intention tremor. Compared with her twin sister, the patient's speech was less modulated and slower. MRI scanning disclosed symmetric changes of density in the basal ganglia and nucleus dentatus as well as in the brainstem. ECG yielded no evidence of an AV-node block. Molecular biological analysis showed a structural rearrangement of the mtDNA. Conclusions. Mitochondrial encephalomyopathies in early ages may present with pronounced retinal changes in the absence of external ophthalmoplegia. Therefore, it appears prudent to include a neuropediatric evaluation as well as a mutation screening of the mtDNA in the evaluation of pediatric patients with diffuse non-specific pigmented retinopathies."],["dc.identifier.doi","10.1007/s00347-002-0662-5"],["dc.identifier.isi","000182139300011"],["dc.identifier.pmid","12640554"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/46386"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.relation.issn","0941-293X"],["dc.title","Pigmented retinopathy as a presenting sign of mitochondrial encephalomyopathy without external ophthalmoplegia"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","371"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Journal of Inherited Metabolic Disease"],["dc.bibliographiccitation.lastpage","380"],["dc.bibliographiccitation.volume","32"],["dc.contributor.author","Manegold, C."],["dc.contributor.author","Hoffmann, Georg F."],["dc.contributor.author","Degen, Ingrid"],["dc.contributor.author","Ikonomidou, H."],["dc.contributor.author","Knust, A."],["dc.contributor.author","Laass, Martin W."],["dc.contributor.author","Pritsch, M."],["dc.contributor.author","Wilichowski, E."],["dc.contributor.author","Hoerster, F."],["dc.date.accessioned","2018-11-07T08:29:26Z"],["dc.date.available","2018-11-07T08:29:26Z"],["dc.date.issued","2009"],["dc.description.abstract","Aromatic L-amino acid decarboxylase (AADC) deficiency is a disorder of biogenic amine metabolism resulting in generalized combined deficiency of serotonin, dopamine and catecholamines. Main clinical features are developmental delay, muscular hypotonia, dystonia, oculogyric crises and additional extraneurological symptoms. Response to therapy has been variable and unsatisfactory; the overall prognosis is guarded. To gain more insight into this rare disorder we collected clinical and laboratory data of nine German patients. All patients were clinically examined by one investigator, and their responses to different drug regimes were evaluated by the patients' charts. Symptoms were obvious from early infancy. Later, main neurological features were truncal muscular hypotonia, hypokinesia, oculogyric crises and rigor. Three patients had single seizures. All patients presented distinct extraneurological symptoms, such as hypersalivation, hyperhidrosis, nasal congestion, sleep disturbances and hypoglycaemia. In CSF all patients revealed the pattern typical of AADC with decreased concentrations of homovanillic and 5-hydroxyindoleacetic acid and elevated concentration of 3-ortho-methyldopa. Diagnosis was confirmed by measurement of AADC activity in plasma in all patients. Drug regimes consisted of vitamin B(6), dopamine agonists, MAO inhibitors and anticholinergics in different combinations. No patient achieved a complete recovery from neurological symptoms, but partial improvement of mobility and mood could be achieved in some. AADC deficiency is a severe neurometabolic disorder, characterized by muscular hypotonia, dystonia, oculogyric crises and additional extraneurological symptoms. Medical treatment is challenging, but a systematic trial of the different drugs is worthwhile."],["dc.identifier.doi","10.1007/s10545-009-1076-1"],["dc.identifier.isi","000266452800007"],["dc.identifier.pmid","19172410"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/16653"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.publisher.place","Dordrecht"],["dc.relation.conference","2nd International Symposium on Pediatric Neurotransmitter Diseases"],["dc.relation.eventlocation","Washington, DC"],["dc.relation.issn","0141-8955"],["dc.title","Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up"],["dc.type","conference_paper"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.journal","Journal of Neurology"],["dc.bibliographiccitation.volume","258"],["dc.contributor.author","Buechner, Bernd"],["dc.contributor.author","Wittig, Ilka"],["dc.contributor.author","Schaegger, H."],["dc.contributor.author","Schols, Ludger"],["dc.contributor.author","Rapaport, D."],["dc.contributor.author","Dimmer, K."],["dc.contributor.author","Prokisch, Holger"],["dc.contributor.author","Schuelke-Gerstenfeld, M."],["dc.contributor.author","Seelow, D."],["dc.contributor.author","Freisinger, Peter"],["dc.contributor.author","Sperl, Wolfgang"],["dc.contributor.author","Kunz, W."],["dc.contributor.author","Abicht, Angela"],["dc.contributor.author","Schneiderat, P."],["dc.contributor.author","Yilmaz, A."],["dc.contributor.author","Kuhn, K."],["dc.contributor.author","Saft, Carsten"],["dc.contributor.author","Guettsches, A."],["dc.contributor.author","Kornblum, Cornelia"],["dc.contributor.author","Schaefer, J."],["dc.contributor.author","Deschauer, M."],["dc.contributor.author","Knop, K. C."],["dc.contributor.author","Korinthenberg, Rudolf"],["dc.contributor.author","Wilichowski, E."],["dc.contributor.author","Ebinger, Friedrich"],["dc.contributor.author","von Kleist-Retzow, J."],["dc.contributor.author","Mueller-Felber, Wolfgang"],["dc.contributor.author","Woernle, S."],["dc.contributor.author","Kraegeloh-Mann, Ingeborg"],["dc.contributor.author","Obermaier-Kusser, B."],["dc.contributor.author","Meitinger, Thomas"],["dc.contributor.author","Klopstock, Thomas"],["dc.date.accessioned","2018-11-07T08:56:33Z"],["dc.date.available","2018-11-07T08:56:33Z"],["dc.date.issued","2011"],["dc.format.extent","197"],["dc.identifier.isi","000289992800563"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/23183"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.publisher.place","Heidelberg"],["dc.relation.eventlocation","Lisbon, PORTUGAL"],["dc.relation.issn","0340-5354"],["dc.title","mitoNET-German network for mitochondrial disorders: progress report after 2 years duration"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]