Vascular leukoencephalopathies panel [12 genes]
Some hereditary leukoencephalopathies are caused by vascular diseases. These diseases include cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is caused by heterozygous pathogenic variants in the NOTCH3 gene and characterized by episodes of recurrent ischemic stroke associated with cognitive decline that progresses to dementia, migraine with aura, psychiatric disorders and diffuse white matter lesions and subcortical infarcts on neuroimaging, with typical involvement of the anterior temporal lobes.
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
- APP, CST3, ITM2B, GSN: Hereditary cerebral amyloid angiopathy
- NOTCH3: CADASIL
- HTRA1: CARASIL
- COL4A2: Cerebral small vessel disease
- GLA: Fabry disease
- CTSA: Galactosialidosis
- CTC1: Cerebroretinal microangiopathy with calcifications and cysts (Coats plus syndrome)
- COL4A1: Autosomal dominant pontine microangiopathy and leukoencephalopathy (PADMAL)
- COL4A1: COL4A1-related familial vascular leukoencephalopathy
- COL4A1: Cerebral small vessel disease
- TREX1: Retinal vasculopathy with cerebral leukodystrophy and systemic manifestations.