Journal of Neurology · 7 authors, 4 centres
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This narrative review summarizes the classification, genetic basis, diagnosis, and emerging therapies for leukodystrophies, which are rare genetic white matter disorders of the CNS. It highlights that improved diagnostic approaches and a growing pipeline of novel therapeutic options represent significant recent advances in the field.
This narrative review covers the clinical and genetic landscape of leukodystrophies, a heterogeneous group of rare genetic disorders primarily affecting CNS white matter. Incidence is reported as 1 in 100,000 to 1 in 6000–7700 live births in USA and Europe and 3 per 100,000 in Asian countries, with metachromatic leukodystrophy and X-linked adrenoleukodystrophy being the most common forms. Diagnostic approaches including MRI, whole-exome sequencing, and whole-genome sequencing are discussed alongside their increasing diagnostic yield. The review also presents an update on ongoing clinical trials and emerging therapies. The authors note that better characterisation of pathomechanisms and identification of biomarkers are crucial for designing effective targeted treatments.
