Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a small-vessel disease of the brain that is genetically transmitted and often is diagnosed in middle adulthood. It can lead to progressive cognitive deterioration, emotional and personality changes. The disorder is often erroneously diagnosed as it may mimic other neurological or neuropsychiatric conditions (such as multiple sclerosis).

This work’s objectives are establishing greater recognition among health care providers of this relatively common, but yet underestimated cause of cognitive and emotional changes.

We present a middle aged patient with genetically confirmed Cadasil.

The patient underwent extensive neuropsychological testing. In addition, he underwent comprehensive medical, neurological, neuroradiological and genetic investigations.

Neuroimaging data showed significant changes in both white and gray matter. Neuropsychological investigations revealed variable degrees of impairments in executive functions, emotional and social information processing and conscious mnemonic processing (episodic-autobiographical memory).

Impairments in episodic-autobiographical memory, executive functions and social and emotional processing may represent early neuropsychological changes in Cadasil. Identifying both the early neurological and neuropsychological features of this condition, in order to enable early accurate diagnosis is a crucial task for future research.