As clinical neuropsychologists, we are often asked to identify the cause of thinking changes. Many conditions can cause thinking and memory problems, ranging from neurodegenerative diseases like Alzheimer’s to vascular disorders that reduce blood flow to the brain. Understanding the underlying process is crucial, as different conditions require different approaches to treatment and management. Some disorders present with clear patterns, while others are rare and often overlooked.
Recently, I evaluated a patient whose cognitive profile and symptom timeline were consistent with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), a rare genetic disease affecting small blood vessels in the brain. This condition leads to strokes, cognitive decline, and migraines. It usually starts between the ages of 30 and 60. The disease can also cause mood and behavior changes, such as depression, anxiety, irritability, and difficulty controlling emotions. Some people may act impulsively or, in rare cases, experience psychotic symptoms. These issues tend to get worse over time (months to years), making it harder to manage emotions and social interactions. Specifically, my patient reported migraines, impaired gait, apathy, and incongruent affect to mood, common early indicators of CADASIL.
My patient’s cognitive pattern of findings was consistent with a broad range of deficits in the form of attention-concentration, information processing, cognitive flexibility, multitasking, verbal reasoning, language, visuospatial/constructional reasoning, memory, and daily efficiency problems.
Complex neuropsychological examination programs were applied to the patient’s test results further supported a CADASIL diagnosis, revealing correlations linked to small vessel disease affecting deeper brain structures.
These findings, along with the timeline and progression of her decline, required my recommendations to follow up with neurology for genetic testing, skin biopsy, neuroimaging, and blood-based biomarkers for further evaluation.
This case makes our role in the diagnostic process even more critical, as early identification can help guide appropriate medical interventions, genetic counseling, and patient education to slow progression and improve quality of life.
Early detection is crucial in conditions like CADASIL. If you or a loved one are experiencing unexplained cognitive or neurological symptoms, a comprehensive neuropsychological examination can provide valuable information. Contact our office to learn more about next steps.
_____________________________
Zachary T. DiPasquale, Psy.D.
NJ Temporary Permit # 243-059
Neuropsychology Post-Doctoral Fellow