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J Clin Neurosci. 2018 Apr;50:131-132. doi: 10.1016/j.jocn.2018.01.055. Epub 2018 Feb 21.

Novel SGCE mutation in a patient with myoclonus-dystonia syndrome - Diagnostic delay of more than 40 years.

Author information

1
Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Movement Disorders Section, Campus Virchow Klinikum and Campus Mitte, Department of Neurology, Charitéplatz 1, 10119 Berlin, Germany. Electronic address: dorothee.kuebler@charite.de.
2
Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Movement Disorders Section, Campus Virchow Klinikum and Campus Mitte, Department of Neurology, Charitéplatz 1, 10119 Berlin, Germany.
3
Institute of Neurogenetics, University of Lübeck, Maria-Goeppert-Straße 1, 23562 Lübeck, Germany.

Abstract

We present a case of myoclonus-dystonia syndrome illustrated by three videos in which we found a novel SGCE mutation. As the patient described here was suffering from predominant psychiatric comorbidities it took more than 40 years from the first manifestation of the disease until the diagnosis. Having detected the genetically proven cause for his motor and non-motor symptoms was an enormous relief to our patient. We want to share this instructive case in order to prompt neurologists and psychiatrists to look closely at both movement disorders and neuropsychiatric signs in order to diagnose and treat patients to the latest standard.

KEYWORDS:

DYT11; Myoclonus dystonia; Novel mutation; Psychiatric symptoms; SGCE gene

PMID:
29429788
DOI:
10.1016/j.jocn.2018.01.055
[Indexed for MEDLINE]

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