L68Q cystatin C. Expression, cellular transport and turnover of the cystatin C variant forming amyloid in patients with Hereditary Cystatin C Amyloid Angiopathy (HCCAA)
Hereditary cystatin C amyloid angiopathy (HCCAA) is a disorder characterised by multiple strokes in young adults, resulting in paralysis and dementia. The disease is caused by a mutation in the gene coding for the peptidase inhibitor cystatin C. The mutation causes an amino acid substitution Leu68 to Gln in cystatin C (L68Q cystatin C) which results in deposition of the protein in the blood vessel
