White matter disorders with autosomal dominant heredity: a review with personal clinical case studies and their MRI findings
Abstract:Sundal C, Ekholm S, Andersen O. White matter disorders with autosomal dominant heredity: a review with personal clinical case studies and their MRI findings.
Acta Neurol Scand: 2010: 121: 328–337.
© 2009 The Authors Journal compilation © 2009 Blackwell Munksgaard. Background –
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. Objectives –
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. Material and methods –
The focus is on four syndromes with pure leukoencephalopathies, however, leukoencephalopathies with associated clinical features are included. Results –
T2 weighted MR imaging often show features common for leukoencephalopathies, yet shows distinguishing features in transthyretin amyloidosis. Conclusion –
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.
Document Type: Research Article
Publication date: May 1, 2010