"CARASAL is caused by a point missense mutation (c.973C>T) in the CTSA gene, located within chromosome 20q13.12, which encodes for cathepsin A 1-4. This mutation is inherited in an autosomal dominant pattern 1-5. It is yet to be fully elucidated how this mutation leads to the clinicoradiological syndrome that is observed in CARASAL 1,5."
"Notably, this is condition is very distinct from autosomal recessive mutations in CTSA implicated in the lysosomal storage disorder galactosialidosis 2."
"heterozygous HTRA1-related cerebral small vessel disease"