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    This review covers common leukodystrophies, highlighting improved diagnosis through advanced genetic testing and the emergence of new therapies for these rare neurological disorders.

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    Area of Science:

    • Neurology
    • Genetics
    • Rare Diseases

    Background:

    • Leukodystrophies are a class of over 30 rare neurological disorders.
    • Historically considered progressive and fatal in children, they now show a wider spectrum of presentations affecting all ages.
    • Advances in genetic testing and newborn screening have increased recognition.

    Purpose of the Study:

    • To review the most common leukodystrophies.
    • Focus on diagnosis, clinical features, and emerging therapeutic options.
    • Summarize key advances in the field.

    Main Methods:

    • Review of current literature on leukodystrophies.
    • Analysis of diagnostic advancements including next-generation sequencing and newborn screening.
    • Synthesis of information on clinical manifestations and treatment options.

    Main Results:

    • Recognition of leukodystrophies has increased, with over 30 identified disorders.
    • Next-generation sequencing and newborn screening enable earlier detection of presymptomatic and atypical cases.
    • Improved understanding of disease outcomes informs clinical trial design and therapeutic advances.

    Conclusions:

    • Early diagnosis through advanced testing is crucial for timely intervention within the therapeutic window.
    • The development of targeted therapies necessitates broader recognition and diagnosis of these diverse disorders.
    • This review consolidates current knowledge on leukodystrophy management and treatment.