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

Dorothee Kübler; Friederike Borngräber; Katja Lohmann; Andrea A. Kühn

doi:10.1016/j.jocn.2018.01.055

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

Dorothee Kübler^*, Friederike Borngräber, Katja Lohmann, Andrea A. Kühn

^*Korrespondierende/r Autor/-in für diese Arbeit

Institut für Neurogenetik

Charite - Universitatsmedizin Berlin

2 Zitate (Scopus)

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.

Originalsprache	Englisch
Zeitschrift	Journal of Clinical Neuroscience
Jahrgang	50
Seiten (von - bis)	131-132
Seitenumfang	2
ISSN	0967-5868
DOIs	https://doi.org/10.1016/j.jocn.2018.01.055
Publikationsstatus	Veröffentlicht - 04.2018

Fördermittel

Dorothee Kübler is participant in the BIH-Charité Clinician Scientist Program funded by the Charité-Universitätsmedizin Berlin and the Berlin Institute of Health . Katja Lohmann is supported by the German Federal Ministry of Education and Research (BMBF, DYSTRACT consortium, 01GM1514B ).

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10.1016/j.jocn.2018.01.055

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title = "Novel SGCE mutation in a patient with myoclonus-dystonia syndrome – Diagnostic delay of more than 40 years",

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.",

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AU - Lohmann, Katja

AU - Kühn, Andrea A.

PY - 2018/4

Y1 - 2018/4

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AB - 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.

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ER -

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

Abstract

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