title: Atypical MRI findings in Canavan disease: a patient with a mild course.
abstract: Canavan disease is a severe, progressive leukodystrophy with an autosomal recessive inheritance, caused by aspartoacylase (ASPA) deficiency. The characteristic MRI features include diffuse, symmetrical white matter degeneration in the subcortical areas, with bilateral involvement of the globus pallidus. Proton magnetic resonance spectroscopy of the brain shows an increase in the concentration of N-acetylaspartic acid (NAA). The altered NAA metabolism has been traced to mutations in the gene encoding ASPA, located on chromosome 17 (17p13-ter). We present here a patient with a mild form of Canavan disease confirmed with the absent ASPA activity, atypical MRI findings, related to compound heterozygosity for a missense mutation, p.Tyr288Cys, and the known pan-European mutation, the p.Ala305Glu.
authors.affiliation: Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey. cyalcin@ideefixe.com
authors.forename: C
authors.initials: C
authors.lastname: Yalcinkaya
authors.forename: G
authors.initials: G
authors.lastname: Benbir
authors.forename: G S
authors.initials: GS
authors.lastname: Salomons
authors.forename: E
authors.initials: E
authors.lastname: Karaarslan
authors.forename: M O
authors.initials: MO
authors.lastname: Rolland
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
authors.forename: M S
authors.initials: MS
authors.lastname: van der Knaap
mesh_terms: D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D001426:Bacterial Proteins / Q000235:genetics; D017825:Canavan Disease / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7; D003545:Cysteine / Q000235:genetics; D005260:Female; D005917:Globus Pallidus / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy / Q000379:methods; D009154:Mutation; D012697:Serine Endopeptidases / Q000235:genetics; D014443:Tyrosine / Q000235:genetics
chemical_list: D001426:Bacterial Proteins; D001224:Aspartic Acid; D014443:Tyrosine; C000179:N-acetylaspartate; D012697:Serine Endopeptidases; C078810:aspA protein, Aeromonas salmonicida; D003545:Cysteine