Neuronal Ceroid Lipofuscinoses Overview

Review

In: GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.

2001 Oct 10 [updated 2025 May 29].

Kristina Malik¹, Kourtney Santucci¹, Leighann Sremba², Maija Steenari³, Andrea Miele⁴, Scott Demarest⁵, Ineka Whiteman^{6

7

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¹ University of Colorado School of Medicine;, Children's Hospital Colorado, Aurora, Colorado
² Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado
³ Division of Neurology, CHOC Children's;, Department of Pediatrics and Neurology, University of California Irvine, Orange, California
⁴ Section of Pediatrics/Neurology, University of Colorado School of Medicine;, Children's Hospital Colorado, Aurora, Colorado
⁵ Section of Pediatrics and Neurology, University of Colorado School of Medicine;, Precision Medicine Institute, Children's Hospital Colorado, Aurora, Colorado
⁶ Batten Disease Support, Research and Advocacy (BDSRA) Foundation, Columbus, Ohio
⁷ BDSRA Australia, Shelly Beach, New South Wales, Australia
⁸ Beyond Batten Disease Foundation, Austin, Texas

Excerpt

The purpose of this overview is to:

1
Briefly describe the clinical characteristics of neuronal ceroid lipofuscinoses;
2
Review the genetic causes of neuronal ceroid lipofuscinoses;
3
Provide an evaluation strategy to identify the genetic cause of a neuronal ceroid lipofuscinosis in a proband;
4
Review management of neuronal ceroid lipofuscinoses;
5
Inform genetic counseling of family members of an individual with a neuronal ceroid lipofuscinosis.