What question did this study set out to answer?

To explore the clinicoradiologic characteristics of CARASAL and compare them with those of CADASIL.

March 28, 2026Open Access

Expanding the Clinicoradiologic Phenotype of the CTSA -Associated Small Vessel Disease CARASAL

Key Points

To explore the clinicoradiologic characteristics of CARASAL and compare them with those of CADASIL.
Described a series of patients diagnosed with CARASAL
Analyzed stroke subtypes present in CARASAL and CADASIL patients
Compared radiologic features between the two groups
Identified distinct stroke subtypes in CARASAL patients compared to CADASIL
Observed unique radiologic features that differentiate CARASAL from CADASIL

Abstract

Genetic small vessel diseases (SVDs) are associated with early onset of stroke and dementia. Cathepsin A–related arteriopathy with strokes and leukoencephalopathy (CARASAL) is an extremely rare genetic SVD caused by a single heterozygous CTSA variant, which can mimic cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the most common genetic SVD. In this study, we describe a series of patients with CARASAL and compare stroke subtypes and radiologic features with those of patients with CADASIL.

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Cite This Study

Cerfontaine et al. (Wed,) studied this question.

synapsesocial.com/papers/69c770888bbfbc51511e0979 https://doi.org/https://doi.org/10.1212/nxg.0000000000200358

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