Early onset dystonia

Gene: SLC30A10

Green List (high evidence)

Comment from the Parkinson panel: Biallelic mutations cause hypermanganesemia with dystonia-1 (HMNDYT1), increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, Brain MRI shows hyperintensities in the basal ganglia). PMID: 22341971 (2 consang families with two consanguineous families with neurologic disorders including juvenile-onset dystonia, adult-onset parkinsonism, severe hypermanganesemia, polycythemia, and chronic hepatic disease, including steatosis and cirrhosis), 22341972 (8 families with HMNDYT1), 22926781 (one pt, and treatment: intravenous disodium calcium edetate (CaNa2-EDTA ethylenediaminetetraacetic acid), 1 g twice-daily (BD) over 5 days led to significantly increased 24-hour urinary manganese (12,852 nmol after 5 days) and reduced blood manganese levels. THIS IS ONE OF THE FEW DYSTONA-PARKINSONISM that is treatable), 22934317 (this is a gene review for this disorder). Keep this gene in both this gene to both the dystonia panel and pd.

Created: 15 Dec 2016, 11:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hypermanganesemia with dystonia-1 (HMNDYT1), increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, Brain MRI shows hyperintensities in the basal ganglia

Publications

• 22341971
• 22341972
• 22926781
• 22934317

Comment on list classification: >3 unrelated cases reported on OMIM for different variants in patients from different ethnicities.

Created: 25 Aug 2016, 10 a.m.

This gene is not mentioned in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.

Created: 10 Jun 2016, 8:35 a.m.

Comment on list classification: Potentially treatable metabolic defect that can present with dystonia

Created: 27 May 2016, 9:42 a.m.