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Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Advances and Expansion of the Clinicopathologic Spectrum

  • Genetics (V Bonifati, Section Editor)
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Abstract

Neuronal ceroid lipofuscinosis (NCL), first clinically described in 1826 and pathologically defined in the 1960s, refers to a group of disorders mostly diagnosed in the childhood years that involve the accumulation of lysosomal storage material with characteristic ultrastructure and prominent neurodegenerative features including vision loss, seizures, motor and cognitive function deterioration, and often times, psychiatric disturbances. All NCL disorders evidence early morbidity and treatment options are limited to symptomatic and palliative care. While distinct genetic forms of NCL have long been recognized, recent genetic advances are considerably widening the NCL genotypic and phenotypic spectrum, highlighting significant overlap with other neurodegenerative diseases. This review will discuss these recent advances and the expanded potential for increased awareness and new research that will ultimately lead to effective treatments for NCL and related disorders.

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Papers of particular interest, published recently, have been highlighted as: • Of importance

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Authors and Affiliations

  1. Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, 185 Cambridge St, Boston, MA, 02114, USA

    Susan L. Cotman & Katherine B. Sims

  2. Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge St, Boston, MA, 02114, USA

    Amel Karaa

  3. Center for Human Genetic Research, Department of Pathology, Massachusetts General Hospital, 185 Cambridge St, Boston, MA, 02114, USA

    John F. Staropoli

  4. Clinical Genetics Program, Harvard Medical School , 77 Louis Pasteur Ave, Boston, MA, 02115, USA

    Amel Karaa

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  1. Susan L. Cotman
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  2. Amel Karaa
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  3. John F. Staropoli
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  4. Katherine B. Sims
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Correspondence to Susan L. Cotman.

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Susan L. Cotman declares that she has no potential conflicts of interest.

Amel Karaa declares that she has no potential conflicts of interest.

John F. Staropoli declares that he has no potential conflicts of interest.

Katherine B.Sims declares that she has no potential conflicts of interest.

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This article does not contain any primary research studies with human or animal subjects performed by any of the authors.

This article is part of the Topical Collection on Genetics

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Cotman, S.L., Karaa, A., Staropoli, J.F. et al. Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Advances and Expansion of the Clinicopathologic Spectrum. Curr Neurol Neurosci Rep 13, 366 (2013). https://doi.org/10.1007/s11910-013-0366-z

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