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. 2013 Nov;1832(11):1801-6.
doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17.

NCL diseases - clinical perspectives

Angela Schulz  1 , Alfried Kohlschütter, Jonathan Mink, Alessandro Simonati, Ruth Williams
Affiliations

NCL diseases - clinical perspectives

Angela Schulz et al. Biochim Biophys Acta. 2013 Nov.

Abstract

The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage disorders and together are the most common degenerative brain diseases in childhood. They are a group of disorders linked by the characteristic accumulation of abnormal storage material in neurons and other cell types, and a degenerative disease course. All NCLs are characterized by a combination of dementia, epilepsy, and motor decline. For most childhood NCLs, a progressive visual failure is also a core feature. The characteristics of these symptoms can vary and the age at disease onset ranges from birth to young adulthood. Genetic heterogeneity, with fourteen identified NCL genes and wide phenotypic variability render diagnosis difficult. A new NCL classification system based on the affected gene and the age at disease onset allows a precise and practical delineation of an individual patient's NCL type. A diagnostic algorithm to identify each NCL form is presented here. Precise NCL diagnosis is essential not only for genetic counseling, but also for the optimal delivery of care and information sharing with the family and other caregivers. These aspects are challenging because there are also potential long term complications which are specific to NCL type. Therefore care supported by a specifically experienced team of clinicians is recommended. As the underlying pathophysiological mechanism is still unclear for all NCL forms, the development of curative therapies remains difficult. This article is part of a Special Issue entitled: The neuronal ceroid lipofuscinoses or Batten Disease.

Keywords: Batten; Ceroid; Diagnostic algorithm; Disease classification; NCLs.

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Figures

Fig. 1
Fig. 1
Fundoscopic appearance of the retina of a patient with juvenile CLN3 disease. Irregular pigment distribution and thin blood vessels are visible.
Fig. 2
Fig. 2
Vacuoles in the cytoplasm of a peripheral blood lymphocyte from a patient with juvenile CLN3 disease. Routine blood smear.
See this image and copyright information in PMC

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