Stroke

Gene: CTSA

Green List (high evidence)

Borderline Green/Amber. 19 individuals reported, but single founder variant, c.973C>T; p.R325C.

Bi-allelic variants in this gene are associated with galactosialidosis.

Created: 10 Mar 2021, 2:05 a.m. | Last Modified: 10 Mar 2021, 2:12 a.m.

Panel Version: 0.70

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)

Publications

• 32842921
• 31177426

Green List (high evidence)

c.973C>T; p.R325C reported in three families, total of 14 individuals;
PMID: 27664989 WES applied in two of these families, confirmed variant segregation with affected status and
features of: leukoencephalopathy, ischemic and hemorrhagic strokes, cognitive deterioration, and therapy-resistant hypertension. Haplotype analysis confirmed shared ancestry b/w 2 families. Dutch ancestry.
Autopsy showed striking endothelin-1 immunoreactivity in white matter astrocytes, consistent with known role of cathepsin A function, to degrade endothelin-1. Cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)
PMID: 31177426; further 1 case with same variant - British. CARASAL is a primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy

Created: 10 Mar 2021, 12:49 a.m. | Last Modified: 10 Mar 2021, 12:49 a.m.

Panel Version: 0.70

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
cerebral microangiopathy

Publications

• PMID: 32842921
• 31177426

I don't know

Three families reported with the same variant (c.973C > T), and a study mapping the condition to 20q13, where CTSA is located, but no sequencing conducted.
Sources: Literature

Created: 11 May 2020, 3:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cathepsin A-related Arteriopathy With Strokes and Leukoencephalopathy (CARASAL)

Publications

• 27664989
• 31177426
• 23175731