Parkinson Disease and Complex Parkinsonism

Gene: ATP1A3

Green List (high evidence)

Monoallelic mutations cause a range of neurological phenotypes including rapid-onset dystonia-parkinsonism (DYT12, abrupt onset of dystonia with features of parkinsonism, a rostrocaudal gradient, and prominent bulbar findings), alternating hemiplegia of childhood and also CAPOS syndrome (early-childhood onset of recurrent episodes of acute ataxic encephalopathy associated with febrile illnesses, that tend to decrease with time, but with the neurologic sequelae permanent and progressive, resulting in gait and limb ataxia and areflexia. Affected individuals also develop optic atrophy and sensorineural hearing loss beginning in childhood), ataxia. Keep this gene in both the dystonia panel and pd.

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

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; CAPOS syndrome

Comment on list classification: Also green on the early onset dystonia gene panel Version 1.0.

Created: 28 Oct 2016, 12:26 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, 11:01 a.m.