ArticleJournal of neurology2022
A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).
Article in Journal of neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 13 citations in OpenAlex.
- Expanding the Clinicoradiologic Phenotype of theNeurology. Genetics · 2026Article
- The pathogenesis of cerebral small vessel disease and vascular cognitive impairment.Physiological reviews · 2025Review
- Monogenic causes of cerebral small vessel disease- models for vascular cognitive impairment and dementia?Current opinion in psychiatry · 2025Review
- CADASIL: A NOTCH3-associated cerebral small vessel disease.Journal of advanced research · 2024Review
- Advances in Management of the Stroke Etiology One-Percenters.Current neurology and neuroscience reports · 2023Review
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCathepsin 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.
methodsClinical and imaging phenotypes of two patients are presented. Genetic variants were identified using targeted Sanger and focused exome sequencing, respectively.
resultsBoth patients carried the same pathogenic p.Arg325Cys mutation in CTSA. One patient of Chinese ethnicity presented with migraine, tinnitus and slowly progressive cognitive impairment with significant cerebral small vessel disease in the absence of typical cardiovascular risk factors. She later suffered an ischaemic stroke. A second patient from Brazil, of Italian ethnicity developed progressive dysphagia and dysarthria in his 50s, he later developed hearing loss and chronic disequilibrium. Magnetic resonance imaging in both cases demonstrated extensive signal change in the deep cerebral white matter, anterior temporal lobes, thalami, internal and external capsules and brainstem.
conclusionsCARASAL should be considered in patients with early onset or severe cerebral small vessel disease, particularly where there are prominent symptoms or signs related to brainstem involvement, such as hearing dysfunction, tinnitus or dysphagia or where there is significant thalamic and brainstem involvement on imaging.
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