Moyamoya disease

Epidemiology

• rare
• higher incidence in Asians, particularly Japanese

Pathology

• bilateral intracranial carotid artery occlusion
• ischemic stroke
• telangiectatic vessels in the region of the basal ganglia

Genetics

• autosomal recessive
• two loci identified: chromosome 3p & chromosome 17q25

Clinical manifestations

• children
  • hemiplegia, sudden onset
  • epileptic seizures
• adults
  • subarachnoid bleeding

More general terms

• cerebrovascular disease/disorder
• genetic disease of the central nervous system
• genetic disease of blood vessels

Patient information

Moyamoya disease patient information

Database

• OMIM: https://mirror.omim.org/entry/252350
• OMIM: https://mirror.omim.org/entry/607151
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=50960
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=260295