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GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2010 Apr 27 [updated 2014 Sep 11].

Author information

Department of Molecular Neuroscience, Resource Branch for Brain Disease, Brain Research Institute, Niigata University, Niigata, Japan
Department of Medical Technology, School of Health Sciences Faculty of Medicine, Niigata University, Niigata, Japan
Department of Neurology, Kameda Medical Center, Kamogawa, Japan



CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy) is characterized by early-onset changes in the deep white matter of the brain observed on MRI and associated neurologic findings. The most frequent initial symptom is gait disturbance from spasticity beginning between ages 20 and 30 years. Twenty-three percent of affected individuals have stroke-like episodes before age 40 years. Mood changes (apathy and irritability), pseudobulbar palsy, and cognitive dysfunction begin between ages 20 and 50 years. The disease progresses slowly over the five to 20 years following the onset of neurologic symptoms. Scalp alopecia before age 30 years and acute mid- to lower-back pain (lumbago) with onset between ages ten and 40 years are characteristic.


Diagnosis relies on brain MRI findings and molecular genetic testing of HTRA1, the only gene in which pathogenic variants are known to be associated with CARASIL.


Treatment of manifestations: supportive care including emotional support and counseling for affected individuals and their families; walking aids for gait disturbance and/or medication for spasticity; anxiolytic medication for character change as needed; routine care for dementia. Surveillance: Follow-up intervals are based on the severity and type of symptoms and the needs of the individuals and their care givers.


CARASIL is inherited in an autosomal recessive manner. Each sib of an affected individual has a 25% chance of being affected, a 50% chance of being a carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members and prenatal testing for at-risk pregnancies is possible if the pathogenic variants in the family have been identified.

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