CADASIL, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: Navigatingthe Genetic and Clinical Complexity Implications
DOI:
https://doi.org/10.17720/ky55fj63Abstract
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic condition affecting the central nervous system (CNS), primarily linked to mutations inthe Notch3 gene located on chromosome 19. CADASILis characterized by recurrent strokes, cognitive decline, and migraines, often leading to severe disability.
Characteristically, CADASIL presents with clinical symptoms that include transient ischemic attacks (TIAs),subcortical infarcts, mood disturbances, and progressive cognitive impairment. These clinical features are typically observed in middle-aged adults and progress over time. The disease has a distinctive appearance on magnetic resonance imaging (MRI), which often revealswhite matter hyperintensities, especially in the subcortical regions, as well as lacunar infarcts and microbleeds.
The diagnosis of CADASIL is primarily based on genetic testing to identify mutations in the Notch3 gene, supported by neuroimaging findings.. There is currently no cure for CADASIL, and treatment focuses on managing symptoms and preventing complications, such as stroke and cognitive decline. Lifestyle modifications and control of vascular risk factors are essential components of the management strategy.Due to its hereditary nature, family members of affected individuals may also be at risk and should consider genetic counseling and testing. Clinicians and radiologists need to be aware of CADASIL as early diagnosis can help in managing the disease and improving the quality of life for affected individuals. This analysis reviews the clinicalfeatures, genetic aspects, and differential diagnoses of CADASIL, emphasizing the importance of recognizing and diagnosing this condition in a timely manner.
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