Atypical Clinical Cases of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)

• Published in: Human physiology Vol. 44; no. 8; pp. 860 - 863
• Main Authors: Moroz, A. A., Abramycheva, N. Yu, Ivanova, E. O., Konovalov, R. N., Timerbaeva, S. L., Illarioshkin, S. N.
• Format: Journal Article
• Language: English
• Published: Moscow Pleiades Publishing 01-12-2018; Springer Nature B.V
• Subjects: Autosomal dominant inheritance; Basal ganglia; Biomedical and Life Sciences; Biomedicine; Brain stem; Cerebellum; Cognitive ability; Erythrocytes; Headache; Heredity; Human Physiology; Leukoaraiosis; Leukoencephalopathy; Life Sciences; Neuroimaging; Notch3 protein; Phenotypes; Substantia alba; Tremor; the; atypical phenotypes; CADASIL; clinical manifestations; gene; diagnosis; neuroimaging
• ISSN: 0362-1197; 1608-3164
• DOI: 10.1134/S0362119718080078

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary CNS disease with autosomal dominant inheritance caused by
NOTCH3
gene mutations. Typically, CADASIL manifests with headaches, recurrent strokes, and progressive cognitive decline. Neuroimaging plays an important diagnostic role as it reveals multiple lacunar infarcts in the basal ganglia, brainstem, and cerebellum, as well as focal white matter lesions and diffuse leukoaraiosis-type changes. CADASIL can sometimes have other symptoms and mimic different phenotypes atypical of the disease. We hereby present two genetically confirmed CADASIL cases that manifested with predominantly cerebellar or essential tremor combined with cognitive and affective disturbances. The main principles of diagnosis of this disease characterized by clinical polymorphism are discussed.