Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults

Alfried Kohlschütter; Annette Bley; Knut Brockmann; Jutta Gärtner; Ingeborg Krägeloh-Mann; Arndt Rolfs; Ludger Schöls

doi:10.1016/j.braindev.2009.03.014

Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults

Brain Dev. 2010 Feb;32(2):82-9. doi: 10.1016/j.braindev.2009.03.014. Epub 2009 May 7.

Authors

Alfried Kohlschütter¹, Annette Bley, Knut Brockmann, Jutta Gärtner, Ingeborg Krägeloh-Mann, Arndt Rolfs, Ludger Schöls

Affiliation

¹ Children's Hospital, University Medical Center Hamburg-Eppendorf, Germany. [email protected]

PMID: 19427149
DOI: 10.1016/j.braindev.2009.03.014

Abstract

Abnormalities of CNS white matter are frequently detected in patients with neurological disorders when MRI studies are performed. Among the many causes of such abnormalities, a large group of rare genetic diseases poses considerable diagnostic problems. Here we present a compilation of genetic leukoencephalopathies to consider when one is confronted with white matter disease of possibly genetic origin. The table contains essentials such as age at onset of symptoms, clinical and MRI characteristics, basic defect, and useful diagnostic studies. The table serves as a diagnostic check list.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Age of Onset
Brain Diseases, Metabolic / diagnosis*
Brain Diseases, Metabolic / genetics
Brain Diseases, Metabolic / pathology
Brain Diseases, Metabolic / physiopathology
Hereditary Central Nervous System Demyelinating Diseases / diagnosis*
Hereditary Central Nervous System Demyelinating Diseases / genetics
Hereditary Central Nervous System Demyelinating Diseases / pathology
Hereditary Central Nervous System Demyelinating Diseases / physiopathology
Humans
Leukoencephalopathies / diagnosis*
Leukoencephalopathies / genetics
Leukoencephalopathies / pathology
Leukoencephalopathies / physiopathology
Magnetic Resonance Imaging