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

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.