Format

Send to:

Choose Destination

Search results

Items: 2

1.

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

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. [from GeneReviews]

MedGen UID:
325051
Concept ID:
C1838577
Disease or Syndrome
2.

Arteriosclerosis of small cerebral arteries

Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain. [from HPO]

MedGen UID:
505723
Concept ID:
CN004374
Finding

Supplemental Content

Find related data

Search details

See more...

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...