Low CSF 5‐HIAA in Myoclonus Dystonia | Zendy

Peall Kathryn J. | Zendy; Ng Joanne | Zendy; Dy Marisela E. | Zendy; Sharma Nutan | Zendy; Pope Simon | Zendy; Heales Simon | Zendy; Friedman Jennifer R. | Zendy; Kurian Manju A. | Zendy

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Low CSF 5‐HIAA in Myoclonus Dystonia

Author(s) -

Peall Kathryn J.,

Ng Joanne,

Dy Marisela E.,

Sharma Nutan,

Pope Simon,

Heales Simon,

Friedman Jennifer R.,

Kurian Manju A.

Publication year - 2017

Publication title -

movement disorders

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.352

H-Index - 198

eISSN - 1531-8257

pISSN - 0885-3185

DOI - 10.1002/mds.27117

Subject(s) - pediatric neurology , medicine , general hospital , neurology , dystonia , library science , family medicine , gerontology , pediatrics , psychiatry , computer science

Myoclonus Dystonia (MD; DYT11) is an early-onset hyperkinetic movement disorder with a prominent psychiatric phenotype caused by mutations in the E-sarcoglycan (SGCE) gene. Although its precise function is unknown, multiple studies suggest E-sarcoglycan to be involved in monoamine metabolism and neurotransmission. We report 4 patients with SGCE-mutation–positive MD associated with low cerebrospinal fluid (CSF) levels of the serotonin metabolite, 5-hydroxyindoleacetic acid. Patients and Methods

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