Early onset dystonia
Gene: VPS13AComment on list classification: Added this gene to the panel as green due to feedback from Arianna Tucci. Choreoacanthocytosis includes dystonia.Created: 15 Dec 2016, 11:33 a.m.
Comment from the Parkinson panel: Biallelic mutations cause choreoacanthocytosis, a progressive movement disorder (limb chorea, dystonia of the oral region but also parkinsonism) characterized by cognitive and behavior changes (resemble frontal lobe syndrome), a myopathy that can be subclinical, and chronic hyperCKemia in serum, and seizures. Although the disorder is named for acanthocytosis of the red blood cells, this feature is variable. CT and MRI reveal atrophy of the caudate nuclei with dilatation of the anterior horns of the lateral ventricles. MRI commonly shows T2-weighted signal increase in the caudate and putamen. Acanthocytes are present in 5 percent-50 percent of the red cell population. Keep this gene in both this gene to both the dystonia panel and pd (complex parkinsonism).Created: 15 Dec 2016, 11:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
complex parkinsonism
This gene has been classified as Green List (High Evidence).
VPS13A was added to Early onset dystoniapanel. Sources:
VPS13A was created by arianna.tucci