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Acta Neurol. Scand. · May 2010
Review Case ReportsWhite matter disorders with autosomal dominant heredity: a review with personal clinical case studies and their MRI findings.
- C Sundal, S Ekholm, and O Andersen.
- Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden. christina.sundal@vgregion.se
- Acta Neurol. Scand. 2010 May 1;121(5):328-37.
BackgroundLeukoencephalopathies are a heterogeneous group of severe encephalopathy syndromes with myelin, axonal or vascular pathology, typically with extensive white matter lesions on MRI T2-FSE and/or -FLAIR sequences.ObjectivesThis review is restricted to leukoencephalopathies with onset in adult age and a dominant inheritance. These diseases are generally severe and often lethal and present with an exacerbating or insidiously progressive course.Material And MethodsThe focus is on four syndromes with pure leukoencephalopathies, however, leukoencephalopathies with associated clinical features are included.ResultsT2 weighted MR imaging often show features common for leukoencephalopathies, yet shows distinguishing features in transthyretin amyloidosis.ConclusionThe diagnosis within the group of leukoencephalopathies thus characterized by MRI relies mainly upon clinical and genetic analysis. The differential diagnosis against treatable leukoencephalopathies is increasingly relevant.
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