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Papers of the Week


2022 Jul 29


J Neurol

A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).

Authors

Budhdeo S, de Paiva A R B, Wade C, Lopes L C G, Della-Ripa B, Davagnanam I, Lucato L, Mummery CJ, Kok F, Houlden H, Werring DJ, Lynch DS
J Neurol. 2022 Jul 29.
PMID: 35904593.

Abstract

Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL) is a rare monogenic cause of cerebral small vessel disease. To date, fewer than 15 patients with CARASAL have been described, all of common European ancestry.