CADASIL Syndrome Presenting as Obsessive-Compulsive Disorder: A Case Report

İngilizce (OpenAlex)

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is an inherited cerebral small vessel disease caused by a mutation in the neurogenic locus notch homologous protein-3 (Notch3) gene located on chromosome 19 (1).The prevalence of the disease is thought to vary between 2 and 5 per 100.000individuals (2).The genesis of the disease can be summarized as follows: A mutation occurs in the Notch3 gene, which encodes a protein found predominantly in vascular smooth muscle cells and regulates the survival and function of these cells.The mutation in the Notch3 gene causes abnormal accumulation of this protein on the surface of smooth muscle cells.The mutant Notch3 gene cannot normally form its product, interleukin-1 beta-converting enzyme inhibitor protein (cFLIP).The functional deficiency of cFLIP affects the signaling pathway within the cell and this leads to intracellular damage and Fas ligand-mediated cell death (3).Clinically, it usually manifests with recurrent transient ischemic attacks, strokes, vascular dementia, migraine with aura, cognitive impairments, and psychiatric symptoms (4).Transient ischemic attacks and migraine with aura manifest in the relatively early stages of the disease and have been more thoroughly defined and studied.However, information on cognitive impairment and psychiatric disorders is still insufficient.The cognitive impairments observed in CADASIL are usually associated with impairment of frontal lobe function, particularly in the area of executive functions and attention.In addition, symptoms such as slowing of mental and motor skills and difficulty in concentration may also be observed.