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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