White matter disorders with autosomal dominant heredity: a review with personal clinical case studies and their MRI findings

Acta Neurologica Scandinavica
C SundalO Andersen

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.

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Citations

Nov 22, 2011·Acta Neurologica Scandinavica·C SundalO Andersen
Jun 9, 2011·Acta Neurologica Scandinavica·A MelbergR Raininko
Jun 12, 2013·Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging·Christina SundalSven Ekholm
Nov 5, 2011·Journal of the Neurological Sciences·Christina SundalZbigniew K Wszolek
Sep 6, 2019·International Journal of Molecular Sciences·Vo Van GiauSang Yun Kim
Oct 20, 2021·Neurology·Luísa SousaRicardo Taipa

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