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Summary
BEHR SYNDROME (BEHRS)
OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES
210000
OMIM = Online Medalian Inheritance of Men
3q29
very rare
autosomal recessive
mutations in the OPA1 gene
symptoms
ataxia
blindness, visual loss, visual impairment
cerebellar atrophy or hypoplasia
contractures, joints
developmental delay
hyperreflexia
hypertonia, spasticity
mental retardation
neuropathy
nystagmus
onset, adolescent
onset, childhood
optic atrophy
pyramidal signs
tremor or twitching
laboratory finding
L-Lactic acid mmol/lcerebrospinal fluid
Literature
von Jonquieres G,et al.Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapyActa Neuropathol135195-1132018
Ferreira CR,Cusmano-Ozog KSpurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase DeficiencyJIMD Rep31045-492017
Drousiotou A,et al.Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approachesClin Genet794385-3902011
Majumdar R,et al.Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduriaMol Genet Genomic Med56795-7992017
Starling SWhite matter disease: Targeted aspartoacylase gene therapy reverts Canavan diseaseNat Rev Neurol14142018