TY - JOUR AU - Szabó, Fruzsina AU - Grosz, Zoltán AU - Gézsi, András AU - Suveges, Anna AU - Jimoh, Idris János AU - Zeke, Helga AU - Gál, Anikó AU - Molnár, Mária Judit TI - Analysis of the most common nuclear genome encoded mitochondrial gene in Hungarian patients with adult-onset mitochondrial disorders JF - EUROPEAN JOURNAL OF HUMAN GENETICS J2 - EUR J HUM GENET VL - 30 PY - 2022 IS - Suppl.1 SP - 286 EP - 286 PG - 1 SN - 1018-4813 UR - https://m2.mtmt.hu/api/publication/34090032 ID - 34090032 LA - English DB - MTMT ER - TY - JOUR AU - István, Lilla AU - Benyó, Fruzsina AU - Csorba, Anita AU - Jimoh, Idris János AU - Gál, Anikó AU - Molnár, Mária Judit AU - Nagy, Zoltán Zsolt AU - Szabó, Viktória TI - Cornealis polymegathismus és retinalis pigmenthám-eltérések MELAS-szindrómában JF - SZEMÉSZET J2 - SZEMÉSZET VL - 159 PY - 2022 IS - 2 SP - 69 EP - 75 PG - 7 SN - 0039-8101 DO - 10.55342/SZEMHUNGARICA.2022.159.2.69 UR - https://m2.mtmt.hu/api/publication/32990409 ID - 32990409 LA - Hungarian DB - MTMT ER - TY - JOUR AU - Jimoh, Idris János AU - Molnár, Mária Judit TI - A mitochondrialis betegségek diagnosztikai és kezelési lehetőségei 2021-ben JF - ORVOSTOVÁBBKÉPZŐ SZEMLE J2 - ORVOSTOVÁBBKÉPZŐ SZLE PY - 2022 SN - 1218-2583 UR - https://m2.mtmt.hu/api/publication/32587580 ID - 32587580 LA - Hungarian DB - MTMT ER - TY - JOUR AU - Jimoh, Idris János AU - Balicza, Péter AU - Csabán, Dóra AU - Grosz, Zoltán AU - Varga, N. AU - Molnár, Viktor AU - Fekete, Bálint András AU - Illés, Anett AU - Boczán, Judit AU - Klivényi, Péter AU - Gál, Anikó AU - Molnár, Mária Judit TI - SPG7 mutations in Hungarian cohorts: new insights and possible genotype-phenotype correlations JF - EUROPEAN JOURNAL OF NEUROLOGY J2 - EUR J NEUROL VL - 28 PY - 2021 SP - 845 EP - 845 PG - 1 SN - 1351-5101 UR - https://m2.mtmt.hu/api/publication/32596517 ID - 32596517 AB - Background and aims: Paraplegin encoded by SPG7 causes autosomal recessive hereditary spastic paraplegia (HSP). It is responsible for 5–12% of the HSPs. The SPG7 mutations result in pure HSP, but based on some observations the clinical picture can be more colourful.Methods: We screened 342 Hungarian patients for damaging SPG7 rare variants (DRVs) by NGS. Based on phenotype 5 subcohort were established: spastic paraplegia; ataxia; motoneuron lesion; progressive external ophthalmoplegia, and patient with mitochondrial encephalopathy. We aimed to identify the frequency of the DRVs of the SPG7 in these patients and to compare its ratio in the subgroups.Results: We identified 17 patients with biallelic, 16 patients with monoallelic DRVs. The p.Leu78Ter mutation was present in nine cases with biallelic, in four cases with monoallelic presentation. This DRV seems to be the most common DRV associated with HSP7 in Hungary. In patients with heterozygous presentation is seems to be disease-causing similarly as the p.Ala510Val mutation, which was proposed previously to be associated with HSP in heterozygous form as well. This latter was also common in the Hungarian cohort. The ratio of DRVs was the following in the subgroups: spasticity 11,39%, ataxia 17,61%, motoneuron lesion 7,87%, PEO 11,90%., and mitochondrial encephalopathy 9,64%.Conclusion: SPG7 mutation result in wide clinical phenotype. The p.Leu78Ter DRV is the most common pathogenic mutation in Hungary beside the p.Ala510Val. Both of these DRVs may result in clinical signs both in monoallelic and biallelic form, the monoallelic alterations result in less severe phenotype.Disclosure: The authors have nothing to declare. LA - English DB - MTMT ER - TY - JOUR AU - Jimoh, Idris János AU - Sebe, Barbara AU - Balicza, Péter AU - Fedor, Mariann AU - Pataky, Ilona AU - Rudas, Gábor AU - Gál, Anikó AU - Inczédy-Farkas, Gabriella AU - Németh, György AU - Molnár, Mária Judit TI - Wernicke–Korsakoff syndrome associated with mtDNA disease JF - THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS J2 - THER ADV NEUROL DISO VL - 13 PY - 2020 IS - January-December PG - 7 SN - 1756-2856 DO - 10.1177/1756286420938972 UR - https://m2.mtmt.hu/api/publication/31409996 ID - 31409996 N1 - Semmelweis University of Medicine, Budapest, Hungary Gedeon Richter Nyrt, Budapest, Hungary Peter Pazmany Catholic University, Budapest, Hungary Northwell Health, NY, United States Semmelweis University of Medicine, Üllői 26, Budapest, 1085, Hungary Cited By :3 Export Date: 26 July 2023 Correspondence Address: Molnar, M.J.; Semmelweis University of Medicine, Üllői 26, Hungary; email: molnarmj@gmail.com LA - English DB - MTMT ER - TY - JOUR AU - Molnár, Mária Judit AU - Jimoh, Idris János AU - Zeke, Helga AU - Palásti, Ágnes AU - Fedor, Mariann TI - Early-Onset Schizophrenia With Predominantly Negative Symptoms: A Case Study of a Drug-Naive Female Patient Treated With Cariprazine JF - FRONTIERS IN PHARMACOLOGY J2 - FRONT PHARMACOL VL - 11 PY - 2020 SN - 1663-9812 DO - 10.3389/fphar.2020.00477 UR - https://m2.mtmt.hu/api/publication/31293409 ID - 31293409 AB - Schizophrenia is a chronic and severe mental disorder characterized by positive, negative, and cognitive symptoms. Negative symptoms are usually present from the prodromal phase; early diagnosis and management of negative symptoms is a major health concern since an insidious onset dominated by negative symptoms is associated with a worse outcome. Antipsychotic medications, which are effective for treating positive symptoms, are generally ineffective for treating negative or cognitive symptoms. We present a 23-year-old woman showing severe symptoms at her first visit to our department. The patient’s parents reported that their daughter had experienced several years of psychosocial decline and putative psychiatric symptoms, but no medical attention had been previously sought; as such, the diagnosis of schizophrenia with predominantly negative symptoms was very much delayed. Early onset of schizophrenia, longer duration of untreated psychosis, and severe negative symptoms, which have limited treatment options, suggested a poor prognosis. We initiated monotherapy with cariprazine, a novel antipsychotic that has recently been proven efficacious in treating schizophrenia with predominantly negative symptoms. This report describes a 52-week cariprazine treatment regimen and follows the patient’s impressive clinical improvement confirmed by PANSS and CGI scores, and psychological tests. LA - English DB - MTMT ER - TY - JOUR AU - Molnár, Viktor AU - Gézsi, András AU - Illés, Anett AU - Balicza, Péter AU - Berta, B. AU - Csabán, Dóra AU - Jimoh, Idris János AU - Gál, Anikó AU - Molnár, Mária Judit TI - Sequential approach to identify disease causing variants in patients with mitochondrial dysfunction of a Hungarian cohort JF - EUROPEAN JOURNAL OF HUMAN GENETICS J2 - EUR J HUM GENET VL - 27 PY - 2019 IS - Supplement: 1 SP - 191 EP - 192 PG - 2 SN - 1018-4813 UR - https://m2.mtmt.hu/api/publication/32686652 ID - 32686652 LA - English DB - MTMT ER - TY - JOUR AU - Fekete, Bálint András AU - Pentelényi, Klára AU - Rudas, Gábor AU - Gál, Anikó AU - Grosz, Zoltán AU - Illés, Anett AU - Jimoh, Idris János AU - Csukly, Gábor AU - Domonkos, Andor AU - Molnár, Mária Judit TI - Broadening the phenotype of the TWNK gene associated Perrault syndrome JF - BMC MEDICAL GENETICS J2 - BMC MED GENET VL - 20 PY - 2019 IS - 1 PG - 8 SN - 1471-2350 DO - 10.1186/s12881-019-0934-4 UR - https://m2.mtmt.hu/api/publication/31032708 ID - 31032708 AB - Perrault syndrome is a genetically heterogenous, very rare disease, characterized clinically by sensorineural hearing loss, ovarian dysfunction and neurological symptoms. We present the case of a 33 years old female patient with TWNK-associated Perrault syndrome. The TWNK gene is coding the mitochondrial protein Twinkle and currently there are only two reports characterizing the phenotype of TWNK-associated Perrault syndrome. None of these publications reported about special brain MRI alterations and neuropathological changes in the muscle and peripheral nerves.Our patients with TWNK-dependent Perrault syndrome had severe bilateral hypoacusis, severe ataxia, polyneuropathy, lower limb spastic paraparesis with pyramidal signs, and gonadal dysgenesis. Psychiatric symptoms such as depression and paranoia were present as well. Brain MRI observed progressive cerebellar hyperintensive signs associated with cerebellar, medulla oblongata and cervical spinal cord atrophy. Light microscopy of the muscle biopsy detected severe neurogenic lesions. COX staining was centrally reduced in many muscle fibers. Both muscle and sural nerve electron microscopy detected slightly enlarged mitochondria with abnormal cristae surrounded by lipid vacuoles. In the sural nerve, dystrophic axons had focally uncompacted myelin lamellae present. Genetic investigation revealed multiple mtDNA deletion and compound heterozygous mutations of the TWNK gene (c.1196 A > G, c.1358 G > A).This study demonstrates that TWNK associated Perrault syndrome has a much broader phenotype as originally published. The coexistence of severe hypoacusis, spastic limb weakness, ataxia, polyneuropathy, gonadal dysgensia, hyperintense signals in the cerebellum and the presence of the mtDNA multiple deletion could indicate the impairment of the TWNK gene. This is the first report about pyramidal tract involvement and cerebellar MRI alteration associated with TWNK-related Perrault syndrome. LA - English DB - MTMT ER - TY - GEN AU - Molnár, Viktor AU - Gézsi, András AU - Illés, Anett AU - Balicza, Péter AU - Berta, B AU - Csabán, Dóra AU - Jimoh, Idris János AU - Gál, Anikó AU - Molnár, Mária Judit TI - Sequential approach to identify disease causing variants in patients with mitochondrial dysfunction of a Hungarian cohort PY - 2018 UR - https://m2.mtmt.hu/api/publication/31796560 ID - 31796560 LA - English DB - MTMT ER -