SNP Shot: Genomic Insights

CARASIL, or cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, is a genetic disorder characterized by strokes and neurological problems.

Individuals with CARASIL typically begin experiencing symptoms in their 20s or 30s. Initial signs often include leg stiffness (spasticity) and difficulty walking. Approximately 50% of those affected experience a stroke or stroke-like event before the age of 40. As the condition progresses, individuals commonly develop mood and personality changes, cognitive decline (dementia), memory impairment, and worsening motor control.

Additional common characteristics of CARASIL include early-onset hair loss (alopecia) and recurring lower back pain. The hair loss generally starts in adolescence and is confined to the scalp. The back pain, which typically begins in early to mid-adulthood, is caused by the degeneration of the intervertebral discs.

CARASIL symptoms gradually worsen over time. Affected individuals experience a decline in emotional control and communication skills over several years. They increasingly need assistance with daily tasks and personal care, eventually becoming completely dependent. While most individuals survive for about a decade after symptom onset, some have lived with the disease for 20 to 30 years.

Inheritance:

CARASIL is inherited in an autosomal recessive manner. This means that both copies of the gene in each cell must have mutations for the condition to develop. Individuals with CARASIL inherit one mutated copy of the gene from each parent, who are typically carriers without exhibiting symptoms themselves.