Brain small vessel disease with Axenfeld-Rieger anomaly is an autosomal recessive disorder characterized by cerebrl bleedings. Other clinical features include retinal arteriolar tortuosity, hypopigmentation of the fundus, and diffuse leukoencephalopathy. The disease can manifest in infantile hemiparesis. It is caused by mutations of the COL4A1 gene. Because of similar structure and function mutations of the COL4A2 genes may case the same clinical picture.
Several mutations of the same gene cause a more severe manifestation called Porencephaly.
In the management of the disorder anticoagulants are better avoided because of the risk to cause severe cerebral bleeding.
|Hereditary neurological disorders|
|Autosomal dominant cerebellar ataxia, deafness and narcolepsy|
|Autosomal recessive spastic paraplegia type 44|
|Brain malformations with urinary tract defects|
|Brain small vessel disease with hemorrhage|
|Congenital insensitivity to pain with anhidrosis|
|Hereditary benign chorea|
|Hereditary brain tumors|
|Hereditary distal motor neuron neuropathy type 5A|
|Hereditary muscle diseases|
|Hereditary sensory and autonomic neuropathy type 2A|
|Hereditary sensory neuropathy type 1E|
|Hypokalemic periodic paralysis 1|
|Hypomyelinating Leukodystrophy 2|
|Idiopathic basal ganglia calcification 1|
|Intellectual disability-severe speech delay-mild dysmorphism syndrome|
|Nemaline myopathy 5|
|Severe neonatal-onset encephalopathy with microcephaly|
|Spastic paraplegia 17 with amyotrophy of hands and feet|
|Susceptibility to glioma|
|Tuberous sclerosis complex|
|X-linked syndromic mental retardation 13|
Vahedi K et al. (2003) Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy.
Van Agtmael T et al. (2005) Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy.
Gould DB et al. (2006) Role of COL4A1 in small-vessel disease and hemorrhagic stroke.
Sibon I et al. (2007) COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.
Vahedi K et al. (2007) Clinical and brain MRI follow-up study of a family with COL4A1 mutation.
Orphanet articleOrphanet ID 36383
OMIM.ORG articleOmim 607595
Wikipedia articleWikipedia EN (Axenfeld_syndrome)