| Autor: |
Meschia JF, Worrall BB, Elahi FM, Ross OA, Wang MM, Goldstein ED, Rost NS, Majersik JJ, Gutierrez J |
| Jazyk: |
angličtina |
| Zdroj: |
Stroke [Stroke] 2023 Oct; Vol. 54 (10), pp. e452-e464. Date of Electronic Publication: 2023 Aug 21. |
| DOI: |
10.1161/STR.0000000000000444 |
| Abstrakt: |
Lacunar infarcts and vascular dementia are important phenotypic characteristics of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, the most common inherited cerebral small vessel disease. Individuals with the disease show variability in the nature and onset of symptoms and rates of progression, which are only partially explained by differences in pathogenic mutations in the NOTCH3 gene. Recognizing the disease early in its course and securing a molecular diagnosis are important clinical goals, despite the lack of proven disease-modifying treatments. The purposes of this scientific statement are to review the clinical, genetic, and imaging aspects of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, contrasting it with other inherited small vessel diseases, and to provide key prevention, management, and therapeutic considerations with the intent of reducing practice variability and encouraging production of high-quality evidence to support future treatment recommendations. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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