CARASIL

Also known as: Maeda syndrome

Recessive hereditary small-vessel disease with alopecia and spondylosis.

Medical specialty: Neurology
Subspecialty: Neurology / Vascular neurology; Neurogenetics
Sex & age distribution: Male: affected; Female: affected equally; Children: no, onset in 20s–30s
Gene(s) involved: HTRA1

Etiology & mechanism

Loss of HTRA1.

Gene(s) involved (1)

HTRA1

Symptoms & signs (6)

alopeciacognitive declineearly strokesgait disturbanceleukoencephalopathylumbar spondylosis

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.