Parkinson Disease and Complex Parkinsonism

Gene: SGCE

Monoallelic mutations maternally imprinted cause myoclonus dystonia (DYT-11)(alcohol-sensitive myoclonic jerks involving mainly the arms and axial muscles, plus Dystonia, usually torticollis and/or writer's cramp, may occasionally be the only symptom of the disease plus some psychiatric features). PMID: 11528394 (6 families with dyt-11), 12325078 (nine families with dyt-11 plus plus writers cramp, cervical dystonia and myoclonus of the neck) and many many more publication. Consider moving this gene to the dystonia panel?

Created: 14 Dec 2016, 5:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
myoclonus dystonia (DYT-11)

Publications

• 11528394
• 12325078

Comment on list classification: Green on the dystonia panel, therefore demoted on this panel as is a dystonia gene.

Created: 8 Dec 2016, 3:26 p.m.

Comment on list classification: Green on the Early onset dystonia gene panel, unsure whether this should be included on the Parkinson's panel.

Created: 2 Nov 2016, 1:50 p.m.

Comment on list classification: Is on the Complex Parkinson's Disease/Dystonia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.

Created: 10 Jun 2016, 11:25 a.m.