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

Q: What is the clinical evidence from this study?

Study design: Observational. Population: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL). Intervention: CARASAL vs. CADASIL. Primary outcome: Stroke subtypes and radiologic features.

Minne N. Cerfontaine; Gido Gravesteijn; Remco J. Hack; Benno Gesierich; Mark C. Kruit; Ido R. Van Den Wijngaard; Irene C. Notting; Esther A.R. Nibbeling; Marianna Bugiani; Marjo S. van der Knaap; Camiel J.F. Boon; Marco Duering; Julie W. Rutten; Saskia A.J. Lesnik Oberstein

doi:10.1212/nxg.0000000000200358

March 25, 2026Neurology GeneticsOpen Access

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

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Key result

CARASAL shows distinct stroke subtypes and radiologic features compared to CADASIL.

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

Study Design

Type

Observational

Structured PICO

P

Population

Patients with Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL) and patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

C

Comparator

Patients with CADASIL

O

Outcome

Stroke subtypes and radiologic features

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Implication

This study expands the clinicoradiologic phenotype of the rare genetic small vessel disease CARASAL by comparing its stroke subtypes and radiologic features to 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.

Discussion

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Cite This Study

Cerfontaine et al. (2026) conducted an observational in Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL). CARASAL vs. CADASIL was evaluated on Stroke subtypes and radiologic features.

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

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

Key Points

Study Design

Structured PICO

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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

Key Points

Study Design

Structured PICO

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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