Early onset dystonia

Gene: ATP1A3

Green List (high evidence)

Comment from the Parkinson panel: 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: 15 Dec 2016, 11:10 a.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: It is a 'both developmental disorders and incidental non-developmental disorder gene for RAPID-ONSET DYSTONIA-PARKINSONISM on Gene2Phenotype and ALTERNATING HEMIPLEGIA OF CHILDHOOD (includes dystonia as a ohenotype). Multiple cases/families reported on OMIM, and multiple different variants.

Created: 23 Aug 2016, 10:34 a.m.

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, 8:51 a.m.

Comment on list classification: Should be green due to information within the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual for dystonia.

Created: 10 Jun 2016, 7:28 a.m.