title: Extensive cerebral white matter abnormality without clinical symptoms: a new hereditary condition?
abstract: A 30-year-old father and his 2 sons with slight hyperkinesia and mildly dysmorphic features and their close relatives were examined clinically and with computed tomography (CT) and magnetic resonance imaging (MRI). Neurophysiological and biochemical examinations were normal; however, brain MRI of the father and sons revealed extensive cerebral white matter changes. No radiological progression could be detected at a 13-year follow-up examination of the father, and proton magnetic resonance spectroscopy (MRS) of the father at the age of 30 years was normal. MRI findings in the relatives were normal, suggesting an autosomal dominant syndrome due to a new mutation in the father.
authors.affiliation: Department of Radiology, Helsinki University, Finland.
authors.forename: T
authors.initials: T
authors.lastname: Autti
authors.forename: M
authors.initials: M
authors.lastname: Muttilainen
authors.forename: R
authors.initials: R
authors.lastname: Raininko
authors.forename: H
authors.initials: H
authors.lastname: Heiskala
authors.forename: J
authors.initials: J
authors.lastname: Puranen
authors.forename: A M
authors.initials: AM
authors.lastname: Häkkinen
authors.forename: P
authors.initials: P
authors.lastname: Tienari
authors.forename: P
authors.initials: P
authors.lastname: Santavuori
authors.forename: P
authors.initials: P
authors.lastname: Suominen
authors.forename: M
authors.initials: M
authors.lastname: Somer
mesh_terms: D000328:Adult; D001927:Brain Diseases / Q000235:genetics*; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree