van der Knaap MS, Schiffmann R, Mochel F, Wolf NI. Diagnosis, prognosis, and treatment of leukodystrophies. Lancet Neurol. 2019 Oct;18(10):962-972. doi: 10.1016/S1474-4422(19)30143-7. Epub 2019 Jul 12. PMID: 31307818.
Abstract
Leukodystrophies comprise a large group of rare genetic
disorders primarily affecting CNS white matter. Historically, the diagnostic
process was slow and patient prognosis regarded as poor because curative
treatment was only available for very few leukodystrophies in early stages of
the disease. Whole-exome sequencing has both greatly increased the number of
known leukodystrophies and improved diagnosis. Whether MRI keeps its central
place in diagnosis and what the role is of whole-exome sequencing are relevant
questions for neurologists. Improved diagnosis has revealed the phenotypic
variability of leukodystrophies, requiring adaptation of prognostication.
Technological advance in molecular techniques and improved insight into the
pathophysiology of individual leukodystrophies have led to therapeutic
developments, including drug design and gene therapy. Despite this progress,
therapies are only beneficial early in the disease course, emphasising the need
for a speedy diagnosis and for research on regenerative approaches to repair
the damage already present.
Courtesy of a colleague
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