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Mitochondrial encephalopathy in a patient with a 13042G>A de novo mutation
  1. Jaroslaw Slawek1,2,
  2. Biruta Kierdaszuk3,
  3. Katarzyna Tonska4,
  4. Agata Kodron4,
  5. Michal Schinwelski5,
  6. Emilia Jadwiga Sitek1,2,
  7. Ewa Bartnik6,
  8. Anna Kaminska3,
  9. Hubert Kwiecinski3
  1. 1Department of Neurological-Psychiatric Nursing, Medical University of Gdansk, Gdansk, Poland
  2. 2Neurology Department, St Adalbert Hospital, Gdansk, Poland
  3. 3Department of Neurology, Medical University of Warsaw, Warsaw, Poland
  4. 4Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Warsaw, Poland
  5. 5Department of Neurological-Psychiatric Nursing and Neurology, Medical University of Gdansk, St Adalbert Hospital, Gdansk, Poland
  6. 6Institute of Genetics and Biotechnology, Faculty of Biology, Institute of Biochemistry and Biophysics, University of Warsaw and Polish Academy of Sciences, Warsaw, Poland
  1. Correspondence to Dr Jaroslaw Slawek, Medical University of Gdansk, Department of Neurological-Psychiatric Nursing, Do Studzienki 38 Street, Gdansk 80-227, Poland; jaroslawek{at}

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Mitochondrial DNA point mutations are associated with various syndromes, among which mitochondrial myopathy, encephalopathy, lactic acidosis and stroke (MELAS) and myoclonic epilepsy with ragged red fibres (MERRF) are the most common.1 Here we present a case report of a young man with a mitochondrial encephalomyopathy caused by a mutation in the ND5 gene (13042A>G), which has been described previously.1

A 21-year-old man presented with a 2-year history of recurrent generalised epileptic seizures and myoclonus with no family history. Neurological examination revealed discrete nystagmus and multifocal myoclonus in the upper limbs, ataxia and focal dystonia presenting as writer's cramp. Neuropsychological examination showed slight working memory impairment and slowed learning of both verbal and visual material. Follow-up examinations conducted 18 and 33 months later did not show evidence of progression of the deficits. The patient exhibited anosodiaphoria throughout the observation period.

Laboratory studies showed a normal serum lactic acid level of 9.45 mg% with an abnormal lactic acid curve during ischaemic muscle exercise. Creatine kinase activity was within the normal range. A 50 min video EEG disclosed a pattern characteristic of myoclonic epilepsy. Visual evoked potentials showed delayed P100 responses. Electromyography and nerve conduction studies were within normal ranges. MRI showed hyperintensive lesions on T2 and FLAIR images in the right cerebral peduncle, close to the occipital horns of the lateral ventricles, in the left temporal lobe as well as …

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  • Funding Supported by grant number N401 049238 from the Polish Ministry of Science and Higher Education.

  • Contributors JS: clinical diagnosis and follow-up examinations, concept and manuscript preparation; BK: coordination of laboratory tests (muscle, genetics), manuscript preparation; EB, KT, AK: DNA examinations, manuscript preparation; AK: coordination, muscle biopsy and examination, manuscript preparation; MS: clinical assessments, manuscript preparations; EJS: neuropsychological examinations and manuscript preparation; HK: study coordinator, clinical assessments and manuscript preparation.

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval As the case was examined during the normal clinical process and we did not perform any experimental therapies or unusual examinations, we did not apply for ethics committee approval.

  • Provenance and peer review Not commissioned; externally peer reviewed.