Cardiac pathology in neuronal ceroid lipofuscinoses (NCL): More than a mere co-morbidity

Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165643. doi: 10.1016/j.bbadis.2019.165643. Epub 2019 Dec 19.


The neuronal ceroid lipofuscinoses (NCLs) are mostly seen as diseases affecting the central nervous system, but there is accumulating evidence that they have co-morbidities outside the brain. One of these co-morbidities is a decline in cardiac function. This is becoming increasingly recognised in teenagers and adolescents with juvenile CLN3, but it may also occur in individuals with other NCLs. The purpose of this review is to summarise the current knowledge of the structural and functional changes found in the hearts of animal models and people diagnosed with NCL. In addition, we present evidence of structural changes that were observed in a systematic comparison of the cardiomyocytes from CLN3Δex7/8 mice.

Keywords: Batten disease; Cardiac pathology; Cardiomyocyte structure; ECG; Echocardiogram; Juvenile CLN3.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Disease Models, Animal
  • Heart Diseases / diagnosis
  • Heart Diseases / metabolism*
  • Humans
  • Membrane Glycoproteins / metabolism
  • Molecular Chaperones / metabolism
  • Myocytes, Cardiac / metabolism*
  • Myocytes, Cardiac / pathology
  • Neuronal Ceroid-Lipofuscinoses / diagnosis
  • Neuronal Ceroid-Lipofuscinoses / metabolism*


  • CLN3 protein, mouse
  • Membrane Glycoproteins
  • Molecular Chaperones