New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

Ruth Williams, Sara E. Mole*

*Corresponding author for this work

    Research output: Contribution to journalLiterature reviewpeer-review

    164 Citations (Scopus)

    Abstract

    We provide a new classification for the neuronal ceroid lipofuscinoses (NCLs) that takes into account recent genetic and biochemical advances. This was originally developed by an international group with clinical, molecular genetic, biological, and morphologic interests, further revised by a panel of world experts in the NCLs, and is now updated in light of recent research findings. The aim is to provide young people, carers, and professionals with a diagnostic label that is informative, leads to effective clinical management of symptoms and in the future perhaps a cure, as well as aiding basic scientific and clinical research. We suggest that clinicians should aim to provide every child and family with detailed diagnostic information at clinical, biochemical, and genetic levels where possible, which the new classification allows in a gene-led hierarchical manner. The robustness and applicability of this updated new classification have been independently audited in the clinical setting using a series of patients previously diagnosed with NCL according to standard ultrastructural, biochemical, or genetic criteria.

    Original languageEnglish
    Pages (from-to)183-191
    Number of pages9
    JournalNeurology
    Volume79
    Issue number2
    DOIs
    Publication statusPublished - Jul 2012

    Keywords

    • CATHEPSIN-D DEFICIENCY
    • KUFS-DISEASE
    • TRANSMEMBRANE PROTEIN
    • BATTEN-DISEASE
    • QUANTITATIVE DESCRIPTION
    • AMAUROTIC IDIOCY
    • MUTANT MICE
    • MUTATIONS
    • JUVENILE
    • VARIANT

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