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Extensive cerebral white matter abnormality without clinical symptoms: a new hereditary condition?
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Oncology, Radiology and Clinical Immunology. (RAD)
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1999 (English)In: Annals of Neurology, ISSN 0364-5134, Vol. 45, no 6, 801-5 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
1999. Vol. 45, no 6, 801-5 p.
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-56895DOI: 10.1002/1531-8249(199906)45:6<801::AID-ANA17>3.0.CO;2-NPubMedID: 10360775OAI: oai:DiVA.org:uu-56895DiVA: diva2:84804
Available from: 2008-10-17 Created: 2008-10-17 Last updated: 2010-01-28Bibliographically approved

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