Parkinson Disease and Complex Parkinsonism

Gene: VPS13A

Green List (high evidence)

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
complex parkinsonism

Comment on list classification: Promoted after discussion with Arianna. Both complex parkinsonism and dystonia.

Created: 8 Dec 2016, 3:37 p.m.

Comment on list classification: Variants reported to cause Choreoacanthocytosis, which includes Parkinsonism as a clinical feature. More than 3 cases/family reports, though I am unsure whether this should be included on this panel.

Created: 3 Nov 2016, 6:18 p.m.