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

  • Susan L. CotmanEmail author
  • Amel Karaa
  • John F. Staropoli
  • Katherine B. Sims
Genetics (V Bonifati, Section Editor)
Part of the following topical collections:
  1. Topical Collection on Genetics


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.


Neuronal ceroid lipofuscinosis NCL Batten disease Kufs disease Parkinson’s disease Parkinsonism Frontotemporal lobar degeneration FTLD Endosome Lysosome Lysosomal disease Subunit c Saposin Progranulin DNAJC5 CSPα CLN6 Cathepsin F KCTD7 ATP13A2 


Compliance with Ethics Guidelines

Conflict of Interest

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.

Human and Animal Rights and Informed Consent

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


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

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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Susan L. Cotman
    • 1
    Email author
  • Amel Karaa
    • 2
    • 4
  • John F. Staropoli
    • 3
  • Katherine B. Sims
    • 1
  1. 1.Center for Human Genetic Research, Department of NeurologyMassachusetts General HospitalBostonUSA
  2. 2.Center for Human Genetic Research, Massachusetts General HospitalBostonUSA
  3. 3.Center for Human Genetic Research, Department of PathologyMassachusetts General HospitalBostonUSA
  4. 4.Clinical Genetics ProgramHarvard Medical School BostonUSA

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