White matter disorders with autosomal dominant heredity: a review with personal clinical case studies and their MRI findings
Abstract
Leukoencephalopathies 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. This 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. The focus is on four syndromes with pure leukoencephalopathies, however, leukoencephalopathies with associated clinical features are included. T2 weighted MR imaging often show features common for leukoencephalopathies, yet shows distinguishing features in transthyretin amyloidosis. The 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.
References
Citations
Related Concepts
Related Feeds
Cardiac Amyloidosis
Cardiac amyloidosis is a myocardial disease characterized by extracellular amyloid infiltration throughout the heart. Discover the latest research on cardiac amyloidosis here.