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

Abstract

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.