Cathepsin A–related arteriopathy with strokes and leukoencephalopathy (CARASAL)

Abstract

CARASAL (cathepsin A-related arteriopathy with strokes and leukoencephalopathy) is a novel hereditary adult-onset cerebral small vessel disease. It is of interest that, next to the cerebral vascular abnormalities, endothelin-1 may have a role in the pathogenesis of the extensive leukoencephalopathy.

Clinical and genetic characterization of leukoencephalopathies in adults

“…Both the history and imaging appearance strongly suggested CADASIL, but no NOTCH3 mutation was identified. The same heterozygous CTSA mutation, c.973C > T, p.R325C, described in two families by Bugiani et al (2016) was detected by focused exome sequencing, confirming the diagnosis of the novel entity CARASAL.…”

“…We identified a single patient with the recently described syndrome of cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL) (Bugiani et al , 2016). The patient had a history of migraine since age 20 in addition to hypertension and depression.…”

Brainstem phenotype of cathepsin A–related arteriopathy with strokes and leukoencephalopathy

“…1 The patient was found to share allele 123 at marker D20S838, indicating a common genetic ancestry with previously reported Dutch cases. 1 …”

“…1,2 The clinical phenotype of CARASAL continues to be defined. Here, we report a British patient with CARASAL with brainstem dysfunction as a leading clinical issue.…”

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

“…Tilt-induced vasovagal syncope and psychogenic pseudosyncope: Overlapping clinical entities In the article "Tilt-induced vasovagal syncope and psychogenic pseudosyncope: Overlapping clinical entities" by H. Blad et al, 1 there is one error in the risk calculation of having both conditions (VVS and PPS) in our sample of 1164 tilt table tests, as the 23 mixed VVS/PPS episodes were not included. The actual VVS proportion should have read 14% (n 5 143 1 23) rather than 12% (n 5 143) and the actual PPS proportion should have read 6% (n 5 51 1 23) rather than 5% (n 5 51).…”